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0
Mappings
0
Definitions
0
Inheritance
5
Pathophysiology
1
Histopathology
6
Phenotypes
5
Pathograph
3
Genes
6
Treatments
0
Subtypes
0
Differentials
0
Datasets
0
Trials
0
Models
13
References
1
Deep Research
🏷

Classifications

Harrison's Chapter
cancer solid tumor
ICD-O Morphology
Adenocarcinoma

Pathophysiology

5
FGFR2 Fusion and Constitutive Activation
FGFR2 fusions join the FGFR2 kinase domain to various partner genes (BICC1, PPHLN1, AHCYL1, and others). Partner genes typically provide oligomerization domains that cause ligand-independent FGFR2 dimerization and constitutive kinase activation. This drives oncogenic signaling through multiple downstream pathways.
intrahepatic cholangiocyte link
fibroblast growth factor receptor signaling pathway link ↑ INCREASED
intrahepatic bile duct link
Show evidence (1 reference)
PMID:36535760 PARTIAL
"Gene fusions are among the most frequent alterations, involving FGFR2 in 10-15% of iCCAs in particular, and NTRK genes at a lower frequency (<1%)."
Supports FGFR2 fusions as frequent alterations in intrahepatic cholangiocarcinoma.
MAPK Pathway Activation
FGFR2 activation leads to recruitment of adaptor proteins (FRS2, GRB2) that activate RAS and the downstream MAPK cascade. This drives transcription of genes promoting cell proliferation.
MAPK cascade link ↑ INCREASED
PI3K-AKT Pathway Activation
FGFR2 signaling activates PI3K through adaptor proteins, leading to AKT phosphorylation. This promotes cell survival and resistance to apoptosis. PI3K pathway activation may contribute to resistance to FGFR inhibitors.
phosphatidylinositol 3-kinase signaling link ↑ INCREASED
PLCgamma-PKC Pathway Activation
FGFR2 directly phosphorylates phospholipase C gamma, leading to protein kinase C activation. This pathway contributes to cell migration, invasion, and other aspects of the transformed phenotype.
Enhanced Cell Proliferation
Combined activation of MAPK, PI3K-AKT, and PLCgamma pathways drives enhanced cell proliferation. FGFR2 fusion-positive tumors are dependent on FGFR2 signaling, making them vulnerable to FGFR inhibition.
cell population proliferation link ↑ INCREASED

Histopathology

1
Well Differentiated Cholangiocarcinoma VERY_FREQUENT
Most cholangiocarcinomas are well differentiated.
Show evidence (1 reference)
PMID:12901270 PARTIAL
"Histologically, 90-95% of CC are well differentiated"
Abstract notes that the majority of cholangiocarcinomas are well differentiated.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for FGFR-Altered Cholangiocarcinoma Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.

Phenotypes

6
Digestive 3
Hepatomegaly FREQUENT Hepatomegaly (HP:0002240)
Jaundice OCCASIONAL Jaundice (HP:0000952)
Nausea OCCASIONAL Nausea (HP:0002018)
Constitutional 2
Abdominal Pain FREQUENT Abdominal pain (HP:0002027)
Fatigue FREQUENT Fatigue (HP:0012378)
Growth 1
Weight Loss FREQUENT Weight loss (HP:0001824)
🧬

Genetic Associations

3
FGFR2 Fusions (Somatic Gene Fusion)
Show evidence (1 reference)
PMID:35871236 PARTIAL
"Recently, several actionable genetic aberrations were identified with significant enrichment in intrahepatic CCA, including FGFR2 gene fusions with a prevalence of 10-15%."
Abstract reports FGFR2 fusion prevalence in intrahepatic cholangiocarcinoma.
FGFR2 Mutations/Amplifications (Somatic Alterations)
FGFR Resistance Mutations (Secondary Resistance)
💊

Treatments

6
Pemigatinib
Action: pharmacotherapy MAXO:0000058
Agent: pemigatinib
Selective FGFR1-3 inhibitor approved for previously treated FGFR2 fusion/rearrangement positive cholangiocarcinoma. FIGHT-202 trial demonstrated 36% objective response rate with 9.1 months median duration of response. Now also approved in first-line (FIGHT-302).
Futibatinib
Action: pharmacotherapy MAXO:0000058
Agent: futibatinib
Irreversible pan-FGFR inhibitor approved for previously treated FGFR2 fusion/rearrangement positive cholangiocarcinoma. FOENIX-CCA2 trial demonstrated 42% response rate. May retain activity against some resistance mutations due to covalent binding mechanism.
Infigratinib
Action: pharmacotherapy MAXO:0000058
Agent: infigratinib
Selective FGFR1-3 inhibitor approved for previously treated FGFR2 fusion positive cholangiocarcinoma. Demonstrated approximately 23% response rate in pivotal study.
Gemcitabine plus Cisplatin
Action: chemotherapy MAXO:0000647
First-line standard chemotherapy for advanced cholangiocarcinoma. May be used before FGFR inhibitors or in combination approaches. FGFR inhibitors increasingly moving to first-line setting.
Gemcitabine plus Cisplatin plus Durvalumab
Action: immunotherapy Ontology label: Immunotherapy NCIT:C15262
Agent: durvalumab cisplatin
Addition of anti-PD-L1 durvalumab to gemcitabine/cisplatin is now standard first-line treatment for advanced biliary tract cancers (TOPAZ-1 trial). Sequencing with FGFR inhibitors being defined.
Surgical Resection
Action: surgical procedure MAXO:0000004
Surgery offers the only potential cure for cholangiocarcinoma. Hepatectomy with adequate margins for intrahepatic tumors. FGFR status does not change surgical approach for resectable disease.
🔬

Biochemical Markers

3
CA 19-9
Serum Phosphate
Liver Function Tests
{ }

Source YAML

click to show
name: FGFR-Altered Cholangiocarcinoma
creation_date: '2026-01-26T02:55:13Z'
updated_date: '2026-04-22T20:13:21Z'
description: >-
  FGFR-altered cholangiocarcinoma is a molecularly defined subtype of intrahepatic
  cholangiocarcinoma characterized by fibroblast growth factor receptor (FGFR) alterations,
  primarily FGFR2 fusions or rearrangements. FGFR2 fusions occur in approximately
  10-15%
  of intrahepatic cholangiocarcinomas and represent actionable targets. Multiple fusion
  partners have been identified, with BICC1, PPHLN1, and AHCYL1 being most common.
  FGFR
  inhibitors pemigatinib, futibatinib, and infigratinib have demonstrated significant
  activity in FGFR2 fusion-positive cholangiocarcinoma, establishing these as standard
  therapies for this molecularly defined subset.
categories:
- Gastrointestinal Cancer
- Hepatobiliary Cancer
- Molecularly Defined Cancer
parents:
- intrahepatic cholangiocarcinoma
pathophysiology:
- name: FGFR2 Fusion and Constitutive Activation
  description: >-
    FGFR2 fusions join the FGFR2 kinase domain to various partner genes (BICC1, PPHLN1,
    AHCYL1, and others). Partner genes typically provide oligomerization domains that
    cause ligand-independent FGFR2 dimerization and constitutive kinase activation.
    This drives oncogenic signaling through multiple downstream pathways.
  evidence:
  - reference: PMID:36535760
    reference_title: "Cholangiocarcinomes avancés et gènes de fusion."
    supports: PARTIAL
    snippet: "Gene fusions are among the most frequent alterations, involving FGFR2 in 10-15% of iCCAs in particular, and NTRK genes at a lower frequency (<1%)."
    explanation: "Supports FGFR2 fusions as frequent alterations in intrahepatic cholangiocarcinoma."
  cell_types:
  - preferred_term: intrahepatic cholangiocyte
    term:
      id: CL:0002538
      label: intrahepatic cholangiocyte
  biological_processes:
  - preferred_term: fibroblast growth factor receptor signaling pathway
    modifier: INCREASED
    term:
      id: GO:0008543
      label: fibroblast growth factor receptor signaling pathway
  locations:
  - preferred_term: intrahepatic bile duct
    term:
      id: UBERON:0003704
      label: intrahepatic bile duct
  downstream:
  - target: MAPK Pathway Activation
    description: FGFR2 activates RAS-RAF-MEK-ERK signaling cascade
  - target: PI3K-AKT Pathway Activation
    description: FGFR2 activates PI3K-AKT-mTOR signaling
  - target: PLCgamma-PKC Pathway Activation
    description: FGFR2 activates phospholipase C gamma signaling
- name: MAPK Pathway Activation
  description: >-
    FGFR2 activation leads to recruitment of adaptor proteins (FRS2, GRB2) that activate
    RAS and the downstream MAPK cascade. This drives transcription of genes promoting
    cell proliferation.
  biological_processes:
  - preferred_term: MAPK cascade
    modifier: INCREASED
    term:
      id: GO:0000165
      label: MAPK cascade
  downstream:
  - target: Enhanced Cell Proliferation
    description: MAPK signaling promotes cell cycle progression
- name: PI3K-AKT Pathway Activation
  description: >-
    FGFR2 signaling activates PI3K through adaptor proteins, leading to AKT phosphorylation.
    This promotes cell survival and resistance to apoptosis. PI3K pathway activation
    may
    contribute to resistance to FGFR inhibitors.
  biological_processes:
  - preferred_term: phosphatidylinositol 3-kinase signaling
    modifier: INCREASED
    term:
      id: GO:0043491
      label: phosphatidylinositol 3-kinase/protein kinase B signal transduction
- name: PLCgamma-PKC Pathway Activation
  description: >-
    FGFR2 directly phosphorylates phospholipase C gamma, leading to protein kinase
    C
    activation. This pathway contributes to cell migration, invasion, and other aspects
    of the transformed phenotype.
- name: Enhanced Cell Proliferation
  description: >-
    Combined activation of MAPK, PI3K-AKT, and PLCgamma pathways drives enhanced cell
    proliferation. FGFR2 fusion-positive tumors are dependent on FGFR2 signaling,
    making
    them vulnerable to FGFR inhibition.
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
histopathology:
- name: Well Differentiated Cholangiocarcinoma
  finding_term:
    preferred_term: Cholangiocarcinoma
    term:
      id: NCIT:C4436
      label: Cholangiocarcinoma
  frequency: VERY_FREQUENT
  description: Most cholangiocarcinomas are well differentiated.
  evidence:
  - reference: PMID:12901270
    reference_title: "[Cholangiocarcinoma--bile ducts cancer]."
    supports: PARTIAL
    snippet: "Histologically, 90-95% of CC are well differentiated"
    explanation: Abstract notes that the majority of cholangiocarcinomas are well differentiated.

phenotypes:
- category: Hepatic
  name: Hepatomegaly
  frequency: FREQUENT
  description: >-
    Liver enlargement from tumor mass. Intrahepatic cholangiocarcinoma typically presents
    as a hepatic mass lesion.
  phenotype_term:
    preferred_term: Hepatomegaly
    term:
      id: HP:0002240
      label: Hepatomegaly
- category: Hepatic
  name: Jaundice
  frequency: OCCASIONAL
  description: >-
    Jaundice from biliary obstruction or extensive hepatic involvement. Less common
    in intrahepatic than in perihilar cholangiocarcinoma.
  phenotype_term:
    preferred_term: Jaundice
    term:
      id: HP:0000952
      label: Jaundice
- category: Gastrointestinal
  name: Abdominal Pain
  frequency: FREQUENT
  description: >-
    Right upper quadrant pain or discomfort from tumor mass or liver capsule involvement.
  phenotype_term:
    preferred_term: Abdominal pain
    term:
      id: HP:0002027
      label: Abdominal pain
- category: Constitutional
  name: Weight Loss
  frequency: FREQUENT
  description: >-
    Unintentional weight loss from cancer cachexia and decreased oral intake.
  phenotype_term:
    preferred_term: Weight loss
    term:
      id: HP:0001824
      label: Weight loss
- category: Constitutional
  name: Fatigue
  frequency: FREQUENT
  description: >-
    Fatigue from hepatic dysfunction and advanced disease burden.
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
- category: Gastrointestinal
  name: Nausea
  frequency: OCCASIONAL
  description: >-
    Nausea from hepatic dysfunction or as a treatment-related side effect.
  phenotype_term:
    preferred_term: Nausea
    term:
      id: HP:0002018
      label: Nausea
biochemical:
- name: CA 19-9
  notes: >-
    Carbohydrate antigen 19-9 is frequently elevated in cholangiocarcinoma. Useful
    for
    monitoring treatment response when elevated at baseline.
- name: Serum Phosphate
  notes: >-
    Hyperphosphatemia is a class effect of FGFR inhibitors due to inhibition of FGFR-mediated
    renal phosphate excretion. Requires monitoring and management during FGFR inhibitor
    therapy.
- name: Liver Function Tests
  notes: >-
    Elevated alkaline phosphatase, GGT, and potentially bilirubin. Transaminases may
    be
    elevated with hepatic involvement.
genetic:
- name: FGFR2 Fusions
  association: Somatic Gene Fusion
  notes: >-
    FGFR2 fusions occur in 10-15% of intrahepatic cholangiocarcinomas. Common partners
    include BICC1, PPHLN1, AHCYL1, TACC3, MGEA5, and others. Over 100 different fusion
    partners have been identified. Detected by RNA-based NGS, FISH, or break-apart
    assays.
  evidence:
  - reference: PMID:35871236
    reference_title: "Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing."
    supports: PARTIAL
    snippet: "Recently, several actionable genetic aberrations were identified with significant enrichment in intrahepatic CCA, including FGFR2 gene fusions with a prevalence of 10-15%."
    explanation: "Abstract reports FGFR2 fusion prevalence in intrahepatic cholangiocarcinoma."
- name: FGFR2 Mutations/Amplifications
  association: Somatic Alterations
  notes: >-
    Activating FGFR2 point mutations and amplifications are less common than fusions
    but may also respond to FGFR inhibitors. V564F/I gatekeeper mutations are associated
    with acquired resistance.
- name: FGFR Resistance Mutations
  association: Secondary Resistance
  notes: >-
    Acquired resistance to FGFR inhibitors often involves secondary FGFR2 kinase domain
    mutations (V564F, N549H/K, E565A, L617V, K659M). Polyclonal resistance is common.
    Monitoring for resistance mutations helps guide subsequent therapy.
treatments:
- name: Pemigatinib
  description: >-
    Selective FGFR1-3 inhibitor approved for previously treated FGFR2 fusion/rearrangement
    positive cholangiocarcinoma. FIGHT-202 trial demonstrated 36% objective response
    rate
    with 9.1 months median duration of response. Now also approved in first-line
    (FIGHT-302).
  treatment_term:
    preferred_term: pharmacotherapy
    term:
      id: MAXO:0000058
      label: pharmacotherapy
    therapeutic_agent:
    - preferred_term: pemigatinib
      term:
        id: NCIT:C121553
        label: Pemigatinib
- name: Futibatinib
  description: >-
    Irreversible pan-FGFR inhibitor approved for previously treated FGFR2 fusion/rearrangement
    positive cholangiocarcinoma. FOENIX-CCA2 trial demonstrated 42% response rate.
    May
    retain activity against some resistance mutations due to covalent binding mechanism.
  treatment_term:
    preferred_term: pharmacotherapy
    term:
      id: MAXO:0000058
      label: pharmacotherapy
    therapeutic_agent:
    - preferred_term: futibatinib
      term:
        id: NCIT:C114283
        label: Futibatinib
- name: Infigratinib
  description: >-
    Selective FGFR1-3 inhibitor approved for previously treated FGFR2 fusion positive
    cholangiocarcinoma. Demonstrated approximately 23% response rate in pivotal study.
  treatment_term:
    preferred_term: pharmacotherapy
    term:
      id: MAXO:0000058
      label: pharmacotherapy
    therapeutic_agent:
    - preferred_term: infigratinib
      term:
        id: NCIT:C88302
        label: Infigratinib
- name: Gemcitabine plus Cisplatin
  description: >-
    First-line standard chemotherapy for advanced cholangiocarcinoma. May be used
    before
    FGFR inhibitors or in combination approaches. FGFR inhibitors increasingly moving
    to first-line setting.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: MAXO:0000647
      label: chemotherapy
- name: Gemcitabine plus Cisplatin plus Durvalumab
  description: >-
    Addition of anti-PD-L1 durvalumab to gemcitabine/cisplatin is now standard first-line
    treatment for advanced biliary tract cancers (TOPAZ-1 trial). Sequencing with
    FGFR
    inhibitors being defined.
  treatment_term:
    preferred_term: immunotherapy
    term:
      id: NCIT:C15262
      label: Immunotherapy
    therapeutic_agent:
    - preferred_term: durvalumab
      term:
        id: NCIT:C103194
        label: Durvalumab
    - preferred_term: cisplatin
      term:
        id: CHEBI:27899
        label: cisplatin
- name: Surgical Resection
  description: >-
    Surgery offers the only potential cure for cholangiocarcinoma. Hepatectomy with
    adequate margins for intrahepatic tumors. FGFR status does not change surgical
    approach for resectable disease.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
disease_term:
  preferred_term: FGFR-altered cholangiocarcinoma
  term:
    id: MONDO:0003210
    label: intrahepatic cholangiocarcinoma

classifications:
  icdo_morphology:
    classification_value: Adenocarcinoma
  harrisons_chapter:
  - classification_value: cancer
  - classification_value: solid tumor
references:
- reference: DOI:10.1016/j.jhep.2023.10.041
  title: Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma
    supporting_text: Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma
- reference: DOI:10.1093/oncolo/oyae170
  title: <i>FGFR2</i> fusion/rearrangement is associated with favorable prognosis and immunoactivation in patients with intrahepatic cholangiocarcinoma
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC).
    supporting_text: Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC).
    evidence:
    - reference: DOI:10.1093/oncolo/oyae170
      reference_title: <i>FGFR2</i> fusion/rearrangement is associated with favorable prognosis and immunoactivation in patients with intrahepatic cholangiocarcinoma
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC).
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.1136/gutjnl-2023-330029
  title: British Society of Gastroenterology guidelines for the diagnosis and management of cholangiocarcinoma
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section.
    supporting_text: These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section.
    evidence:
    - reference: DOI:10.1136/gutjnl-2023-330029
      reference_title: British Society of Gastroenterology guidelines for the diagnosis and management of cholangiocarcinoma
      supports: SUPPORT
      evidence_source: OTHER
      snippet: These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.1158/1078-0432.ccr-22-2036
  title: 'FDA Approval Summary: Pemigatinib for Previously Treated, Unresectable Locally Advanced or Metastatic Cholangiocarcinoma with FGFR2 Fusion or Other Rearrangement'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: 'FDA Approval Summary: Pemigatinib for Previously Treated, Unresectable Locally Advanced or Metastatic Cholangiocarcinoma with FGFR2 Fusion or Other Rearrangement'
    supporting_text: On April 17, 2020, the FDA granted accelerated approval to pemigatinib (PEMAZYRE, Incyte Corporation) for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with an FGFR2 fusion or other rearrangement as detected by an FDA-approved test.
    evidence:
    - reference: DOI:10.1158/1078-0432.ccr-22-2036
      reference_title: 'FDA Approval Summary: Pemigatinib for Previously Treated, Unresectable Locally Advanced or Metastatic Cholangiocarcinoma with FGFR2 Fusion or Other Rearrangement'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: On April 17, 2020, the FDA granted accelerated approval to pemigatinib (PEMAZYRE, Incyte Corporation) for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with an FGFR2 fusion or other rearrangement as detected by an FDA-approved test.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.1158/1078-0432.ccr-23-3780
  title: Clinical Value of Liquid Biopsy in Patients with <i>FGFR2</i> Fusion–Positive Cholangiocarcinoma During Targeted Therapy
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: 'FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi).'
    supporting_text: 'FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi).'
    evidence:
    - reference: DOI:10.1158/1078-0432.ccr-23-3780
      reference_title: Clinical Value of Liquid Biopsy in Patients with <i>FGFR2</i> Fusion–Positive Cholangiocarcinoma During Targeted Therapy
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: 'FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi).'
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.1158/1078-0432.ccr-24-1834
  title: Understanding and Overcoming Resistance to Selective FGFR Inhibitors across <i>FGFR2</i> -Driven Malignancies
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: 'Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies.'
    supporting_text: 'Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies.'
    evidence:
    - reference: DOI:10.1158/1078-0432.ccr-24-1834
      reference_title: Understanding and Overcoming Resistance to Selective FGFR Inhibitors across <i>FGFR2</i> -Driven Malignancies
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: 'Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies.'
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.2147/dddt.s559328
  title: 'Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: 'Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps'
    supporting_text: 'Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps'
- reference: DOI:10.21873/anticanres.17046
  title: Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion
    supporting_text: Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion
- reference: DOI:10.3350/cmh.2024.0318
  title: Burden of mortality from hepatocellular carcinoma and biliary tract cancers by race and ethnicity and sex in US, 2018–2023
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve.
    supporting_text: s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve.
    evidence:
    - reference: DOI:10.3350/cmh.2024.0318
      reference_title: Burden of mortality from hepatocellular carcinoma and biliary tract cancers by race and ethnicity and sex in US, 2018–2023
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.3389/fmed.2024.1384314
  title: 'Global, regional, and national burden and trends analysis of gallbladder and biliary tract cancer from 1990 to 2019 and predictions to 2030: a systematic analysis for the Global Burden of Disease Study 2019'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex.
    supporting_text: Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex.
    evidence:
    - reference: DOI:10.3389/fmed.2024.1384314
      reference_title: 'Global, regional, and national burden and trends analysis of gallbladder and biliary tract cancer from 1990 to 2019 and predictions to 2030: a systematic analysis for the Global Burden of Disease Study 2019'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.3390/cancers17183052
  title: 'Chronic Liver Disease Associated Cholangiocarcinoma: Genomic Insights and Precision Therapeutic Strategies'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide.
    supporting_text: Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide.
    evidence:
    - reference: DOI:10.3390/cancers17183052
      reference_title: 'Chronic Liver Disease Associated Cholangiocarcinoma: Genomic Insights and Precision Therapeutic Strategies'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.3390/cancers18030531
  title: 'FGFR2-Rearranged Biliary Tract Cancer: Biology, Resistance Mechanisms, and Emerging Therapeutic Strategies'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA).
    supporting_text: Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA).
    evidence:
    - reference: DOI:10.3390/cancers18030531
      reference_title: 'FGFR2-Rearranged Biliary Tract Cancer: Biology, Resistance Mechanisms, and Emerging Therapeutic Strategies'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA).
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
- reference: DOI:10.3390/curroncol31070266
  title: 'Integrating Molecular Insights into Biliary Tract Cancer Management: A Review of Personalized Therapeutic Strategies'
  found_in:
  - FGFR_Altered_Cholangiocarcinoma-deep-research-falcon.md
  findings:
  - statement: Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis.
    supporting_text: Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis.
    evidence:
    - reference: DOI:10.3390/curroncol31070266
      reference_title: 'Integrating Molecular Insights into Biliary Tract Cancer Management: A Review of Personalized Therapeutic Strategies'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis.
      explanation: Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
📚

References & Deep Research

References

13
Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma
1 finding
Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma
"Convergent MAPK pathway alterations mediate acquired resistance to FGFR inhibitors in FGFR2 fusion-positive cholangiocarcinoma"
<i>FGFR2</i> fusion/rearrangement is associated with favorable prognosis and immunoactivation in patients with intrahepatic cholangiocarcinoma
1 finding
Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC).
"Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC)."
Show evidence (1 reference)
DOI:10.1093/oncolo/oyae170 SUPPORT Human Clinical
"Increasing evidence highlights that fibroblast growth factor receptor 2 (FGFR2) fusion/rearrangement shows important therapeutic value for patients with intrahepatic cholangiocarcinoma (ICC)."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
British Society of Gastroenterology guidelines for the diagnosis and management of cholangiocarcinoma
1 finding
These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section.
"These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section."
Show evidence (1 reference)
"These guidelines for the diagnosis and management of cholangiocarcinoma (CCA) were commissioned by the British Society of Gastroenterology liver section."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
FDA Approval Summary: Pemigatinib for Previously Treated, Unresectable Locally Advanced or Metastatic Cholangiocarcinoma with FGFR2 Fusion or Other Rearrangement
1 finding
FDA Approval Summary: Pemigatinib for Previously Treated, Unresectable Locally Advanced or Metastatic Cholangiocarcinoma with FGFR2 Fusion or Other Rearrangement
"On April 17, 2020, the FDA granted accelerated approval to pemigatinib (PEMAZYRE, Incyte Corporation) for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with an FGFR2 fusion or other rearrangement as detected by an FDA-approved test."
Show evidence (1 reference)
DOI:10.1158/1078-0432.ccr-22-2036 SUPPORT Human Clinical
"On April 17, 2020, the FDA granted accelerated approval to pemigatinib (PEMAZYRE, Incyte Corporation) for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with an FGFR2 fusion or other rearrangement as detected by an FDA-approved test."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Clinical Value of Liquid Biopsy in Patients with <i>FGFR2</i> Fusion–Positive Cholangiocarcinoma During Targeted Therapy
1 finding
FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi).
"FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi)."
Show evidence (1 reference)
DOI:10.1158/1078-0432.ccr-23-3780 SUPPORT Human Clinical
"FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA), potentially benefiting from FGFR inhibitors (FGFRi)."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Understanding and Overcoming Resistance to Selective FGFR Inhibitors across <i>FGFR2</i> -Driven Malignancies
1 finding
Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies.
"Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies."
Show evidence (1 reference)
DOI:10.1158/1078-0432.ccr-24-1834 SUPPORT Human Clinical
"Understanding resistance to selective FGFR inhibitors is crucial to improve the clinical outcomes of patients with FGFR2-driven malignancies."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps
1 finding
Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps
"Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps"
Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion
1 finding
Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion
"Antitumor Activity of Tasurgratinib as an Orally Available FGFR1-3 Inhibitor in Cholangiocarcinoma Models With FGFR2-fusion"
Burden of mortality from hepatocellular carcinoma and biliary tract cancers by race and ethnicity and sex in US, 2018–2023
1 finding
s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve.
"s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve."
Show evidence (1 reference)
DOI:10.3350/cmh.2024.0318 SUPPORT Human Clinical
"s/The trends in mortality of hepatocellular carcinoma (HCC) and biliary tract cancers stratified by sex and race/ethnicity in the US continue to evolve."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Global, regional, and national burden and trends analysis of gallbladder and biliary tract cancer from 1990 to 2019 and predictions to 2030: a systematic analysis for the Global Burden of Disease Study 2019
1 finding
Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex.
"Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex."
Show evidence (1 reference)
DOI:10.3389/fmed.2024.1384314 SUPPORT Human Clinical
"Our aim was to explore the disease burden caused by gallbladder and biliary tract cancer globally, regionally, and nationally, by age and sex."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Chronic Liver Disease Associated Cholangiocarcinoma: Genomic Insights and Precision Therapeutic Strategies
1 finding
Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide.
"Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide."
Show evidence (1 reference)
DOI:10.3390/cancers17183052 SUPPORT Human Clinical
"Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy arising from the biliary epithelium, with an increasing incidence and poor prognosis worldwide."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
FGFR2-Rearranged Biliary Tract Cancer: Biology, Resistance Mechanisms, and Emerging Therapeutic Strategies
1 finding
Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA).
"Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA)."
Show evidence (1 reference)
DOI:10.3390/cancers18030531 SUPPORT Human Clinical
"Fibroblast growth factor receptor 2 (FGFR2) rearrangements represent one of the most actionable molecular alterations in biliary tract cancer, particularly in intrahepatic cholangiocarcinoma (iCCA)."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.
Integrating Molecular Insights into Biliary Tract Cancer Management: A Review of Personalized Therapeutic Strategies
1 finding
Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis.
"Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis."
Show evidence (1 reference)
DOI:10.3390/curroncol31070266 SUPPORT Human Clinical
"Biliary tract cancers (BTCs) are rare and aggressive malignancies with an increasing incidence and poor prognosis."
Deep research cited this publication as relevant literature for FGFR Altered Cholangiocarcinoma.

Deep Research

1
Falcon
FGFR‑Altered Cholangiocarcinoma (FGFR2 fusion/rearranged iCCA) — Disease Characteristics Research Report
Edison Scientific Literature 33 citations 2026-04-05T14:57:18.479119

FGFR‑Altered Cholangiocarcinoma (FGFR2 fusion/rearranged iCCA) — Disease Characteristics Research Report

Target Disease

  • Disease name (working): FGFR‑altered cholangiocarcinoma, clinically dominated by FGFR2 fusion/rearrangement–positive intrahepatic cholangiocarcinoma (iCCA) (gonzalezmedina2024clinicalvalueof pages 1-2, patel2023fdaapprovalsummary pages 1-3).
  • Category: Molecularly defined subset of cholangiocarcinoma (bile‑duct epithelial malignancy) (patel2023fdaapprovalsummary pages 1-3).
  • MONDO ID: Not established from the retrieved sources for the molecularly defined entity “FGFR‑altered cholangiocarcinoma”; Open Targets returned MONDO IDs for related parent concepts (e.g., intrahepatic cholangiocarcinoma: EFO_1001961; cholangiocarcinoma: EFO_0005221) but not a specific MONDO ID for the FGFR‑altered subtype (patel2023fdaapprovalsummary pages 1-3).

1. Disease Information

1.1 Concise overview (definition)

Cholangiocarcinoma (CCA) is a malignant tumor of the biliary epithelium and is commonly classified anatomically into intrahepatic (iCCA), perihilar, and extrahepatic forms (patel2023fdaapprovalsummary pages 1-3). The most clinically actionable FGFR‑altered form is FGFR2 fusion/rearrangement–positive iCCA, in which oncogenic FGFR2 gene fusions/rearrangements (structural variants) define a molecular subtype that can be treated with FGFR tyrosine kinase inhibitors (TKIs) (patel2023fdaapprovalsummary pages 1-3, gonzalezmedina2024clinicalvalueof pages 1-2).

1.2 Key identifiers and synonyms

  • Common synonyms / alternative names (as used in recent clinical literature):
  • “FGFR2 fusion‑positive cholangiocarcinoma” (gonzalezmedina2024clinicalvalueof pages 1-2)
  • “FGFR2‑rearranged intrahepatic cholangiocarcinoma” / “FGFR2 fusion/rearrangement iCCA” (liu2024fgfr2fusionrearrangementis pages 1-2, xin2026fgfr2rearrangedbiliarytract pages 5-6)
  • “FGFR2 gene fusions or other rearrangements” (regulatory language for pemigatinib indication) (patel2023fdaapprovalsummary pages 1-3)
  • Coding note: The British Society of Gastroenterology (BSG) guideline highlights historical limitations in anatomical subtype coding and notes that “lack of specific coding for pCCA is to be corrected in the latest version of ICD (2021)” (rushbrook2024britishsocietyof pages 5-5).

1.3 Evidence source types

Most knowledge for “FGFR‑altered CCA” is derived from aggregated disease‑level resources (clinical trials, cohort studies, guidelines, and translational studies), not single‑patient EHRs; exceptions include case reports (not emphasized here) and small observational cohorts (gonzalezmedina2024clinicalvalueof pages 1-2, kim2024burdenofmortality pages 1-3).


2. Etiology

2.1 Disease causal factors (mechanistic)

FGFR2 fusion/rearrangement in iCCA is best conceptualized as an oncogenic driver alteration that results in ligand‑independent FGFR signaling and downstream proliferative/survival pathway activation (MAPK and PI3K axis), creating a therapeutically targetable dependency (xin2026fgfr2rearrangedbiliarytract pages 8-10, diperi2024convergentmapkpathway pages 1-3).

2.2 Risk factors (for cholangiocarcinoma overall)

Many established CCA risk factors reflect chronic biliary inflammation, biliary obstruction, chronic liver disease, infections, and carcinogenic exposures.

Authoritative guideline summary (BSG Gut 2024; published Sep 2024): - The guideline provides effect estimates for multiple exposures, including very high relative risks for choledochal cysts and choledocholithiasis, elevated risks for cirrhosis, and increased odds for liver fluke infection (Opisthorchis viverrini/Clonorchis spp.) (rushbrook2024britishsocietyof pages 5-5). - Example values explicitly stated in the guideline excerpt include: - Choledochal cyst: meta‑analysis RR 26.7 (and another estimate 34.9 in the same table) (rushbrook2024britishsocietyof pages 5-5). - Choledocholithiasis: meta‑analysis RR 10.1 (and another estimate 18.6) (rushbrook2024britishsocietyof pages 5-5). - Cirrhosis: meta‑analysis RR 15.3 (additional estimate 3.8) (rushbrook2024britishsocietyof pages 5-5). - Thorotrast exposure: retrospective study RR >300 (rushbrook2024britishsocietyof pages 5-5).

Review summary (Current Oncology 2024; published Jun 2024): A BTC review lists major risk factors as “cholelithiasis, biliary flukes in Asia, chronic inflammatory diseases of the bile ducts, metabolic syndrome-associated liver diseases… tobacco use, chronic hepatitis B and C infections, and cirrhosis” (rosbuxo2024integratingmolecularinsights pages 1-2).

2.3 Protective factors

No validated protective genetic variants or definitive environmental protective factors specific to FGFR‑altered iCCA were identified in the retrieved sources. Prevention is therefore largely addressed as risk‑factor reduction for biliary tract cancers broadly (e.g., metabolic risk) (su2024globalregionaland pages 1-2).

2.4 Gene–environment interactions

Direct gene–environment interaction evidence specific to FGFR2 fusion iCCA was not identified in the retrieved 2023–2024 sources. Etiology‑stratified genomic reviews suggest that molecular landscapes vary by etiologic background (e.g., fluke‑associated vs non‑fluke CCA) (oura2025chronicliverdisease pages 13-14).


3. Phenotypes

3.1 Core clinical phenotype (CCA/iCCA)

Clinical presentation is often nonspecific and many patients present with advanced disease (rosbuxo2024integratingmolecularinsights pages 1-2, patel2023fdaapprovalsummary pages 1-3). The FGFR2‑fusion iCCA subgroup is clinically important primarily because it predicts benefit from FGFR inhibition rather than because it has unique pathognomonic symptoms.

3.2 Suggested phenotype list with HPO mapping (knowledge‑base oriented)

(Phenotypes below reflect common CCA clinical manifestations and treatment‑related effects; frequencies were not consistently provided in retrieved sources.)

Tumor/location related - Abdominal pain — HP:0002027 - Jaundice — HP:0000952 (more typical for extrahepatic obstruction; may occur in iCCA with biliary obstruction) - Weight loss — HP:0001824 - Fatigue — HP:0012378

Laboratory abnormalities (often used clinically) - Elevated alkaline phosphatase — HP:0003155 - Elevated gamma‑glutamyltransferase — HP:0003285 (and was lower in FGFR2‑fusion cases in one surgical cohort) (liu2024fgfr2fusionrearrangementis pages 1-2) - CA19‑9 elevation — HP:0040217 (common in BTC care pathways; not quantified in retrieved evidence)

Targeted therapy adverse events (FGFR inhibitors) - Hyperphosphatemia — HP:0002905 (explicitly a common AE and key risk for pemigatinib) (patel2023fdaapprovalsummary pages 1-3, patel2023fdaapprovalsummary pages 3-5) - Dry eye / ocular toxicity — HP:0001097 / (ocular AE category) (patel2023fdaapprovalsummary pages 1-3, patel2023fdaapprovalsummary pages 3-5) - Alopecia — HP:0001596 (listed among common pemigatinib adverse reactions) (patel2023fdaapprovalsummary pages 1-3)

3.3 Quality‑of‑life impact

The retrieved 2023–2024 sources did not provide standardized QoL instrument outcomes (EQ‑5D, SF‑36, PROMIS) specific to FGFR‑altered iCCA.


4. Genetic / Molecular Information

4.1 Causal/driver genes and alteration classes

  • Primary driver gene: FGFR2 (fibroblast growth factor receptor 2) (patel2023fdaapprovalsummary pages 1-3, liu2024fgfr2fusionrearrangementis pages 1-2).
  • Pathogenic alteration class: Somatic FGFR2 gene fusions/rearrangements (structural variants; almost exclusively in iCCA) (gonzalezmedina2024clinicalvalueof pages 1-2, liu2024fgfr2fusionrearrangementis pages 1-2).

4.2 Frequency / prevalence of FGFR2 fusions in iCCA

  • FDA approval summary states: “FGFR2 fusions occur in an estimated 13–14% of iCCA” (patel2023fdaapprovalsummary pages 1-3).
  • A 2024 liquid biopsy study notes FGFR2 fusions “occur in 10% to 15% of patients with iCCA” (gonzalezmedina2024clinicalvalueof pages 1-2).
  • A surgical cohort (226 ICC samples) found 14.2% (32/226) FGFR2 fusion/rearrangement by FISH (liu2024fgfr2fusionrearrangementis pages 1-2).

4.3 Example fusion partners (and implications)

In FIGHT‑202 Cohort A, FGFR2‑BICC1 was the most common in‑frame fusion (34% of in‑frame fusions) (patel2023fdaapprovalsummary pages 3-5). A broader basket‑trial synthesis similarly highlights BICC1 among common partners (erul2026fibroblastgrowthfactor pages 4-6).

4.4 Somatic vs germline

FGFR2 fusions/rearrangements described here are somatic tumor alterations detected by tumor testing (tissue and/or plasma) (gonzalezmedina2024clinicalvalueof pages 1-2, patel2023fdaapprovalsummary pages 3-5).

4.5 Modifier/co‑alterations influencing response/resistance

Evidence indicates resistance can involve both on‑target FGFR2 kinase‑domain mutations and off‑target bypass alterations (MAPK; PI3K/mTOR) detected by serial tissue/ctDNA sequencing (facchinetti2024understandingandovercoming pages 1-2, diperi2024convergentmapkpathway pages 1-3).


5. Environmental Information

No environmental causes are known to specifically predispose to acquisition of FGFR2 fusions, but environmental and infectious exposures contribute to cholangiocarcinoma risk overall (e.g., liver flukes, carcinogenic exposures, metabolic risk), as summarized in guidelines and global burden analyses (rushbrook2024britishsocietyof pages 5-5, su2024globalregionaland pages 1-2).


6. Mechanism / Pathophysiology

6.1 Core pathway biology (FGFR2 fusion oncogenic signaling)

FGFR2 fusions function as actionable oncogenic drivers, and FGFR signaling interfaces strongly with canonical proliferative and survival pathways. - Translational resistance studies and reviews explicitly implicate MAPK signaling and PI3K/AKT/mTOR as key downstream pathways relevant to resistance and bypass signaling (diperi2024convergentmapkpathway pages 1-3, diperi2024convergentmapkpathway pages 3-5).

Suggested GO Biological Process terms (for annotation): - MAPK cascade — GO:0000165 - PI3K/AKT signaling — GO:0014065 (phosphatidylinositol 3‑kinase signaling) - Positive regulation of cell proliferation — GO:0008284 - Receptor tyrosine kinase signaling — GO:0007169

6.2 Acquired resistance mechanisms (2024–2025 high‑impact evidence)

6.2.1 MAPK pathway convergence (Journal of Hepatology 2024)

A key 2024 mechanistic paper concludes that acquired resistance commonly converges on MAPK re‑activation and/or new FGFR2 mutations. - In a cohort with repeat sequencing (n=17), 11/17 (64.7%) developed new FGFR2 mutations and 9/17 (52.9%) developed new MAPK pathway alterations, with 7 acquiring both (diperi2024convergentmapkpathway pages 1-3). - Longitudinal ctDNA detected emergent MAPK alterations including BRAF V600E and multiple RAS variants in an example patient (diperi2024convergentmapkpathway pages 1-3).

6.2.2 Polyclonal on‑target FGFR2 kinase domain mutations (Clinical Cancer Research 2024)

A prospective resistance program across FGFR2‑driven tumors found polyclonal FGFR2 kinase‑domain mutations are particularly frequent in cholangiocarcinoma. - “Polyclonal FGFR2 kinase domain mutations were frequent” in cholangiocarcinoma (14/27 patients) (facchinetti2024understandingandovercoming pages 1-2). - The study reports distinct patterns by inhibitor class: at resistance to reversible inhibitors many residues can be mutated; after futibatinib resistance was restricted to fewer hotspots including the molecular brake N550 and gatekeeper V565 (facchinetti2024understandingandovercoming pages 1-2).

6.2.3 Specific acquired resistance residues (functional/preclinical evidence)

  • A 2024 preclinical study of an FGFR inhibitor (tasurgratinib) highlights N549H/K as “major acquired mutations in CCA” and demonstrates potency against these in cell models and PDX (kawano2024antitumoractivityof pages 1-2).

6.3 Cell types and microenvironment

A surgical cohort study suggests FGFR2 fusion/rearrangement can associate with an “immune‑activated” state (lower Tregs and N2 neutrophils, higher N1 neutrophils), supporting prognostic stratification and potential immunotherapy targeting hypotheses (liu2024fgfr2fusionrearrangementis pages 1-2).

Suggested Cell Ontology (CL) terms (for annotation): - Cholangiocyte — CL:1000427 (primary malignant lineage) - Regulatory T cell — CL:0000815 (Treg) - Neutrophil — CL:0000775


7. Anatomical Structures Affected

7.1 Organ and system level

  • Primary organ/site: Liver intrahepatic bile ducts (iCCA) (patel2023fdaapprovalsummary pages 1-3, gonzalezmedina2024clinicalvalueof pages 1-2).

Suggested UBERON terms (for annotation): - Liver — UBERON:0002107 - Intrahepatic bile duct — UBERON:0003706 - Biliary tract — UBERON:0000059

7.2 Tissue/cellular level

  • Malignant epithelial tumor arising from biliary epithelium (cholangiocytes) (patel2023fdaapprovalsummary pages 1-3).

7.3 Subcellular level

  • Core disease mechanism localizes to FGFR2 receptor tyrosine kinase signaling at the plasma membrane with downstream cytosolic kinase cascades (MAPK; PI3K) (diperi2024convergentmapkpathway pages 1-3, xin2026fgfr2rearrangedbiliarytract pages 8-10).

8. Temporal Development

8.1 Onset

Typically adult/older adult onset for cholangiocarcinoma overall; guideline excerpt reports median age at diagnosis 75 (population‑level CCA context) (rushbrook2024britishsocietyof pages 5-5).

8.2 Progression

Advanced/metastatic disease at presentation is common and drives reliance on systemic therapy (rosbuxo2024integratingmolecularinsights pages 1-2). FGFR inhibitor benefit is meaningful but limited by acquired resistance, often within months (e.g., resistance observed as progression under therapy with emergent mutations detectable in ctDNA) (gonzalezmedina2024clinicalvalueof pages 1-2, diperi2024convergentmapkpathway pages 1-3).


9. Inheritance and Population

9.1 Inheritance

FGFR2 fusions/rearrangements in iCCA are somatic cancer alterations, not inherited Mendelian disorders (patel2023fdaapprovalsummary pages 3-5).

9.2 Epidemiology (recent quantitative data)

Because “FGFR‑altered cholangiocarcinoma” is molecularly defined, population incidence is usually inferred as iCCA incidence × FGFR2 fusion prevalence. Recent epidemiology sources are mostly for BTC/CCA overall.

US mortality trends (2018–2023; Clinical and Molecular Hepatology 2024, published Oct 2024): - Intrahepatic cholangiocarcinoma mortality increased with APC 3.1% (95% CI 1.2–4.9%) (kim2024burdenofmortality pages 1-3).

Global burden patterns (GBD 2019 analysis; Frontiers in Medicine 2024, published Apr 2024): - From 1990 to 2019, incident cases increased 1.85‑fold and deaths 1.82‑fold, while age‑standardized rates generally decreased (su2024globalregionaland pages 1-2). - High BMI was identified as a leading attributable risk factor, accounting for 15.2% of deaths and 15.7% of DALYs globally in 2019 (su2024globalregionaland pages 1-2).


10. Diagnostics

10.1 Molecular diagnostics are essential (FGFR2)

A key operational requirement in FGFR‑altered iCCA is robust molecular testing to identify FGFR2 fusions.

Regulatory companion diagnostic: The FDA approval summary for pemigatinib states FDA “also approved the FoundationOne CDX… as a companion diagnostic for patient selection” (patel2023fdaapprovalsummary pages 1-3).

10.2 Tissue testing (standard of care)

FIGHT‑202 defined eligibility by presence of “FGFR2 fusion or other rearrangement… as detected by an FDA‑approved test” (patel2023fdaapprovalsummary pages 1-3). Practical implication: tissue NGS (DNA and/or RNA fusion detection) is commonly used, with attention to tissue stewardship.

10.3 Liquid biopsy / ctDNA (2024 development)

A major 2024 study in Clinical Cancer Research evaluated plasma detection and longitudinal monitoring: - Quote (Purpose): “FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA)…” (gonzalezmedina2024clinicalvalueof pages 1-2). - Detection performance: 16/18 patients (88.9%) had FGFR2 fusion events detectable in plasma (gonzalezmedina2024clinicalvalueof pages 1-2). - Clinical management utility: increased ctDNA or emerging resistance mutations enabled “earlier detection of disease progression compared with standard radiologic imaging methods” (gonzalezmedina2024clinicalvalueof pages 1-2).

Implementation interpretation: Plasma ctDNA can complement tissue testing, especially for monitoring resistance evolution and anticipating progression, but tissue remains important for initial diagnosis and comprehensive profiling (gonzalezmedina2024clinicalvalueof pages 1-2, diperi2024convergentmapkpathway pages 1-3).

10.4 Imaging and pathology (CCA general)

Detailed imaging algorithms were not extracted in the evidence snippets used here; however, CCA diagnosis generally requires radiologic and histopathologic confirmation, and is addressed in major guidelines (rushbrook2024britishsocietyof pages 5-5).


11. Outcome / Prognosis

11.1 General BTC/CCA prognosis (population context)

A 2024 precision management review reports poor relative survival in BTC: “1, 3, and 5 years post‑diagnosis estimated at 25%, 10%, and 7%, respectively” (rosbuxo2024integratingmolecularinsights pages 1-2). The same review states: “Approximately 65% of patients receive only the best supportive care at the time of diagnosis” (rosbuxo2024integratingmolecularinsights pages 1-2).

11.2 Prognosis associated with FGFR2 fusion/rearrangement (surgical cohort)

A 2024 surgical cohort study reports FGFR2 fusion/rearrangement as an “independent protective factor” for overall and relapse‑free survival and associates it with an immune‑activated microenvironment (liu2024fgfr2fusionrearrangementis pages 1-2).


12. Treatment

12.1 Targeted FGFR inhibition (core application)

Two FDA‑approved FGFR inhibitors—pemigatinib and futibatinib—are central real‑world implementations for previously treated advanced FGFR2 fusion/rearranged cholangiocarcinoma (patel2023fdaapprovalsummary pages 1-3, gonzalezmedina2024clinicalvalueof pages 1-2).

Therapy (drug; reversible vs irreversible) Target/eligible alteration Trial (name; NCT) Setting/line Key efficacy Key safety signals Regulatory/implementation note
Pemigatinib; selective FGFR1–3, reversible/ATP-competitive Unresectable locally advanced or metastatic cholangiocarcinoma with FGFR2 fusion or other rearrangement; Cohort A included 107 patients, 98% with iCCA; FGFR2-BICC1 was the most common in-frame fusion partner (34%) FIGHT-202; NCT02924376 Previously treated; disease progressed on or after ≥1 prior therapy ORR 35.5% (95% CI 26.5–45.3%); 3 CRs (2.8%) and 35 PRs (32.7%); median DOR 9.1 months (95% CI 6.0–13.5); 63% of responders had DOR ≥6 months and 18% ≥12 months. FDA summary also reports ORR 36% (95% CI 27–45) and median DOR 9.1 months; later update reported median PFS 7.0 months and OS 17.5 months (patel2023fdaapprovalsummary pages 3-5, patel2023fdaapprovalsummary pages 1-3, erul2026fibroblastgrowthfactor pages 4-6) Hyperphosphatemia was a key/common AE; ocular toxicity was an important risk; common ocular events included dry eye. In 146 treated CCA patients, 99% had ≥1 AE, grade 3–4 ADRs occurred in 64%, fatal adverse reactions in 4.1% (patel2023fdaapprovalsummary pages 1-3, patel2023fdaapprovalsummary pages 3-5, erul2026fibroblastgrowthfactor pages 4-6) FDA accelerated approval: 2020-04-17 for adults with previously treated unresectable locally advanced or metastatic CCA with FGFR2 fusion/rearrangement. FoundationOne CDX approved as companion diagnostic (patel2023fdaapprovalsummary pages 1-3)
Futibatinib; pan-FGFR1–4, irreversible/covalent Previously treated unresectable, locally advanced or metastatic intrahepatic cholangiocarcinoma with FGFR2 gene fusions or other rearrangements FOENIX-CCA2; NCT not provided in available context Previously treated; unresectable locally advanced or metastatic iCCA ORR 42% (95% CI 32–52%); reported median PFS ~9.0 months and median OS 21.7 months in review synthesis of phase II data (crolley2024…locally pages 2-3, xin2026fgfr2rearrangedbiliarytract pages 5-6) Hyperphosphatemia reported among the most common treatment-emergent adverse events; ocular toxicity not explicitly quantified in available context (xin2026fgfr2rearrangedbiliarytract pages 5-6) Received regulatory approval based on FOENIX-CCA2 phase II data; implementation note in available context emphasizes use in previously treated FGFR2-rearranged iCCA and potential activity after resistance to reversible FGFR inhibitors, but no companion diagnostic was specified in the available context (crolley2024…locally pages 2-3, gonzalezmedina2024clinicalvalueof pages 1-2)

Table: This table summarizes the core clinical evidence for the two leading FGFR-targeted therapies used in FGFR-altered cholangiocarcinoma, focusing on pivotal trial outcomes, safety, and implementation details. It is useful for quickly comparing pemigatinib and futibatinib in the molecularly defined FGFR2-rearranged setting.

12.1.1 Pemigatinib (PEMAZYRE) — pivotal evidence

FDA accelerated approval language (Clinical Cancer Research 2023; published Oct 2023): - Quote: “On April 17, 2020, the FDA granted accelerated approval to pemigatinib… for… cholangiocarcinoma with an FGFR2 fusion or other rearrangement…” (patel2023fdaapprovalsummary pages 1-3). - Efficacy basis: ORR 36% (95% CI 27–45); median DOR 9.1 months (patel2023fdaapprovalsummary pages 1-3). A detailed breakdown reports ORR 35.5% with 2.8% CR and median DOR 9.1 months (patel2023fdaapprovalsummary pages 3-5). - Key toxicities: hyperphosphatemia and ocular toxicity highlighted as important risks (patel2023fdaapprovalsummary pages 1-3, patel2023fdaapprovalsummary pages 3-5).

Suggested MAXO terms: - FGFR inhibitor therapy — MAXO:0000758 (term name may vary by implementation; use as a targeted small‑molecule therapy action) - Molecular targeted therapy — MAXO:0000010

12.1.2 Futibatinib (LYTGOBI) — pivotal evidence synthesis

A 2026 synthesis reports FOENIX‑CCA2 outcomes (used here only for quantitative endpoints): ORR 42%, median PFS 9.0 months, median OS 21.7 months (xin2026fgfr2rearrangedbiliarytract pages 5-6). A 2024 review excerpt also reports FOENIX‑CCA2 ORR 42% (95% CI 32–52%) (crolley2024…locally pages 2-3).

Clinical positioning and sequencing: A 2024 liquid biopsy study notes futibatinib “has shown to be effective in some patients with acquired resistance to other FGFRi” (gonzalezmedina2024clinicalvalueof pages 1-2), consistent with the mechanistic rationale that irreversible inhibitors may retain activity against subsets of resistance mutations (facchinetti2024understandingandovercoming pages 1-2).

12.2 Managing and anticipating resistance (current expert analysis)

A 2024 resistance program supports a sequential, molecularly guided strategy: - Polyclonal FGFR2 kinase‑domain mutations are common in cholangiocarcinoma (14/27), and off‑target MAPK/PI3K alterations can co‑occur (facchinetti2024understandingandovercoming pages 1-2). - Longitudinal ctDNA and/or re‑biopsy can inform whether switching to an irreversible inhibitor is plausible, or whether bypass pathway inhibition (e.g., PI3K/mTOR) is rational in a subset (e.g., everolimus benefit in selected cases) (facchinetti2024understandingandovercoming pages 1-2).

12.3 Combination strategies (research frontier)

Preclinical and translational evidence indicates MAPK pathway co‑activation can drive resistance and that MEK inhibition can be synergistic with FGFR inhibition in vitro, though not universally effective (diperi2024convergentmapkpathway pages 1-3).

12.4 Ongoing / recent clinical trials (ClinicalTrials.gov; selected)

(Representative examples from retrieved trials list) - FIGHT‑202 (pemigatinib): NCT02924376 — completed (patel2023fdaapprovalsummary pages 1-3). - Infigratinib phase 3 first‑line iCCA with FGFR2 fusions: NCT03773302 — terminated (trial registry evidence retrieved). - Futibatinib advanced CCA with FGFR2 fusion/rearrangement: NCT05727176 — recruiting phase 2 (trial registry evidence retrieved).


13. Prevention

13.1 Primary prevention (BTC/CCA context)

Global burden analysis identifies high BMI as a major attributable risk factor for gallbladder and biliary tract cancers (15.2% of deaths; 15.7% DALYs in 2019), supporting metabolic risk reduction as a plausible population‑level prevention strategy (su2024globalregionaland pages 1-2).

13.2 Secondary prevention / screening

Specific screening recommendations for FGFR‑altered iCCA were not identified in the retrieved evidence excerpts. For CCA broadly, guideline efforts focus on risk factor identification and diagnostic pathways (rushbrook2024britishsocietyof pages 5-5).


14. Other Species / Natural Disease

No naturally occurring non‑human species entity specifically corresponding to “FGFR2 fusion iCCA” was identified from the retrieved sources. This section remains not well characterized in the current evidence set.


15. Model Organisms / Experimental Models

15.1 Preclinical resistance modeling and translational platforms (2024)

Multiple model classes are actively used to study FGFR2 fusion iCCA biology and resistance.

  • Ba/F3 FGFR2::BICC1 models and PDX were used in a prospective resistance study to functionally validate kinase‑domain mutations and evaluate inhibitor classes (facchinetti2024understandingandovercoming pages 2-3, facchinetti2024understandingandovercoming pages 1-2).
  • Engineered biliary epithelial cell models with FGFR2‑BICC1 and induced MAPK alterations (KRAS G12D; BRAF V600E) were used to demonstrate MAPK‑mediated resistance mechanisms and test combinations (diperi2024convergentmapkpathway pages 3-5).
  • NIH/3T3 cells expressing FGFR2 fusions plus CCA patient‑derived xenograft (PDX) were used to test an FGFR inhibitor and activity against acquired mutations including N549H/K (kawano2024antitumoractivityof pages 1-2).

Suggested model‑related ontology hooks: - Patient‑derived xenograft model (PDX) — model type annotation - Organoid model — not directly evidenced in the extracted snippets for FGFR2 fusion iCCA here; however, organoids are broadly discussed as relevant CCA preclinical systems in recent methodological reviews (not used as primary evidence in this report).


Expert Synthesis (2023–2024 emphasis)

  1. FGFR2 fusions/rearrangements are frequent (≈10–15%) and largely iCCA‑restricted, providing a clear precision‑oncology target with FDA‑approved therapies (pemigatinib; futibatinib) (patel2023fdaapprovalsummary pages 1-3, gonzalezmedina2024clinicalvalueof pages 1-2, liu2024fgfr2fusionrearrangementis pages 1-2).
  2. Clinical benefit is substantial but time‑limited, with pemigatinib ORR ~36% and median DOR ~9 months in the pivotal accelerated‑approval dataset (patel2023fdaapprovalsummary pages 1-3, patel2023fdaapprovalsummary pages 3-5).
  3. Resistance is heterogeneous and often polyclonal, involving on‑target FGFR2 kinase‑domain mutations and bypass pathway alterations (MAPK; PI3K/mTOR), motivating serial molecular monitoring and rational sequencing/combination strategies (facchinetti2024understandingandovercoming pages 1-2, diperi2024convergentmapkpathway pages 1-3).
  4. Liquid biopsy moved from concept to clinical utility in 2024: plasma NGS detected FGFR2 fusions in 88.9% of tissue‑confirmed cases and enabled earlier progression detection than imaging in a longitudinal study, supporting real‑world implementation for monitoring (gonzalezmedina2024clinicalvalueof pages 1-2).

Key abstract quotes (verbatim) supporting major claims

  • FDA accelerated approval statement for pemigatinib: “On April 17, 2020, the FDA granted accelerated approval to pemigatinib… for… cholangiocarcinoma with an FGFR2 fusion or other rearrangement…” (Clinical Cancer Research; Oct 2023) (patel2023fdaapprovalsummary pages 1-3).
  • FGFR2 fusion prevalence and plasma detection rationale: “FGFR2 fusions occur in 10% to 15% of patients with intrahepatic cholangiocarcinoma (iCCA)…” (Clinical Cancer Research; Jul 2024) (gonzalezmedina2024clinicalvalueof pages 1-2).

URLs and publication dates (selected high‑authority sources used)

  • Patel TH et al. FDA Approval Summary: Pemigatinib… Clinical Cancer Research (published Oct 2023). https://doi.org/10.1158/1078-0432.CCR-22-2036 (patel2023fdaapprovalsummary pages 1-3)
  • González‑Medina A et al. Clinical Value of Liquid Biopsy… Clinical Cancer Research (published Jul 2024). https://doi.org/10.1158/1078-0432.CCR-23-3780 (gonzalezmedina2024clinicalvalueof pages 1-2)
  • Rushbrook S et al. BSG guidelines… Gut (published Sep 2024). https://doi.org/10.1136/gutjnl-2023-330029 (rushbrook2024britishsocietyof pages 5-5)
  • DiPeri TP et al. Convergent MAPK pathway alterations… Journal of Hepatology (published Feb 2024). https://doi.org/10.1016/j.jhep.2023.10.041 (diperi2024convergentmapkpathway pages 1-3)
  • Facchinetti F et al. Understanding and Overcoming Resistance… Clinical Cancer Research (published Sep 2024). https://doi.org/10.1158/1078-0432.CCR-24-1834 (facchinetti2024understandingandovercoming pages 1-2)
  • Kim D et al. Burden of mortality… in US, 2018–2023 Clinical and Molecular Hepatology (published Oct 2024). https://doi.org/10.3350/cmh.2024.0318 (kim2024burdenofmortality pages 1-3)

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