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0
Mappings
0
Definitions
0
Inheritance
3
Pathophysiology
1
Histopathology
3
Phenotypes
3
Pathograph
1
Genes
5
Treatments
3
Subtypes
0
Differentials
0
Datasets
0
Trials
0
Models
15
References
1
Deep Research
🏷

Classifications

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

Subtypes

3
RET/PTC1 (CCDC6-RET)
Most common RET rearrangement in sporadic papillary thyroid cancer, accounting for approximately 60% of RET fusions. The CCDC6 partner provides a coiled-coil dimerization domain.
RET/PTC3 (NCOA4-RET)
Second most common RET rearrangement, particularly associated with radiation-induced thyroid cancer (Chernobyl). Often associated with solid variant PTC histology.
Other RET Fusions
Multiple other fusion partners have been identified including PRKAR1A, TRIM24, and others. All result in constitutive RET activation.

Pathophysiology

3
RET Fusion and Constitutive Kinase Activation
Chromosomal rearrangements fuse the RET tyrosine kinase domain with upstream partners that provide dimerization domains. This creates constitutively active chimeric proteins that signal independently of RET ligands (GDNF family members).
thyroid follicular cell link
receptor signaling protein tyrosine kinase activity link ↑ INCREASED
thyroid gland link
RAS-MAPK Pathway Activation
Constitutive RET kinase activation drives the RAS-RAF-MEK-ERK signaling cascade, promoting uncontrolled thyroid follicular cell proliferation. This is a major effector of RET-mediated thyroid tumorigenesis.
MAPK cascade link ↑ INCREASED
PI3K-AKT Pathway Activation
RET activation recruits PI3K and stimulates AKT-mTOR signaling, promoting cell survival and resistance to apoptosis. Combined with MAPK activation, this drives thyroid cancer progression.
phosphatidylinositol 3-kinase signaling link ↑ INCREASED

Histopathology

1
Papillary Thyroid Carcinoma VERY_FREQUENT
Papillary thyroid carcinomas are the most common thyroid cancers.
Show evidence (1 reference)
PMID:21221869 PARTIAL
"Papillary thyroid carcinomas are the most common thyroid cancers"
Abstract notes papillary thyroid carcinoma as the most common thyroid cancer.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for RET Fusion-Positive Thyroid Cancer 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

3
Cardiovascular 1
Cervical Lymphadenopathy FREQUENT Lymphadenopathy (HP:0002716)
Endocrine 1
Thyroid Nodule VERY_FREQUENT Thyroid carcinoma (HP:0002890)
Constitutional 1
Fatigue OCCASIONAL Fatigue (HP:0012378)
🧬

Genetic Associations

1
RET (Somatic Gene Fusions)
Show evidence (1 reference)
PMID:39502057 PARTIAL
"The common gene mutations in PTC include BRAF V600E,RET/PTC rearrangement,and RAS mutations."
Supports RET/PTC rearrangements as common mutations in papillary thyroid carcinoma.
💊

Treatments

5
Thyroidectomy
Action: surgical procedure MAXO:0000004
Total thyroidectomy with lymph node dissection is the primary treatment. Most RET fusion-positive PTCs have excellent outcomes with surgery alone.
Radioiodine Therapy
Action: radiation therapy MAXO:0000014
Adjuvant radioactive iodine therapy is used for intermediate and high-risk disease. RET fusion-positive tumors generally maintain radioiodine avidity better than BRAF-mutant tumors.
Selpercatinib
Action: targeted therapy Ontology label: Targeted Therapy NCIT:C93352
Agent: selpercatinib
Highly selective RET inhibitor approved for RET fusion-positive thyroid cancer that is radioiodine-refractory. Demonstrates high response rates with durable disease control.
Pralsetinib
Action: targeted therapy Ontology label: Targeted Therapy NCIT:C93352
Agent: pralsetinib
Another selective RET inhibitor with activity in RET fusion-positive thyroid cancer. Similar efficacy profile to selpercatinib.
Lenvatinib or Sorafenib
Action: targeted therapy Ontology label: Targeted Therapy NCIT:C93352
Agent: lenvatinib
Multi-kinase inhibitors approved for radioiodine-refractory differentiated thyroid cancer. May be used but selective RET inhibitors are preferred for RET fusion-positive tumors.
🔬

Biochemical Markers

2
Thyroglobulin
RET Fusion Testing
{ }

Source YAML

click to show
name: RET Fusion-Positive Thyroid Cancer
creation_date: '2026-01-26T02:55:13Z'
updated_date: '2026-04-22T20:13:21Z'
description: >-
  RET fusion-positive thyroid cancer is a molecularly-defined subset of papillary
  thyroid carcinoma (PTC) harboring chromosomal rearrangements involving the RET
  proto-oncogene. These fusions occur in approximately 10-20% of papillary thyroid
  cancers and are particularly enriched in radiation-induced thyroid cancer. The
  RET kinase domain is fused to various partners that provide dimerization domains,
  leading to constitutive receptor activation. Unlike RET point mutations in medullary
  thyroid cancer, RET fusions arise in thyroid follicular cells and cause papillary
  histology. Highly selective RET inhibitors selpercatinib and pralsetinib provide
  effective targeted therapy for RET fusion-positive thyroid cancer.
categories:
- Endocrine Cancer
- Molecularly-Defined Cancer
parents:
- thyroid carcinoma
has_subtypes:
- name: RET/PTC1 (CCDC6-RET)
  description: >-
    Most common RET rearrangement in sporadic papillary thyroid cancer,
    accounting for approximately 60% of RET fusions. The CCDC6 partner
    provides a coiled-coil dimerization domain.
- name: RET/PTC3 (NCOA4-RET)
  description: >-
    Second most common RET rearrangement, particularly associated with
    radiation-induced thyroid cancer (Chernobyl). Often associated with
    solid variant PTC histology.
- name: Other RET Fusions
  description: >-
    Multiple other fusion partners have been identified including PRKAR1A,
    TRIM24, and others. All result in constitutive RET activation.
pathophysiology:
- name: RET Fusion and Constitutive Kinase Activation
  description: >-
    Chromosomal rearrangements fuse the RET tyrosine kinase domain with
    upstream partners that provide dimerization domains. This creates
    constitutively active chimeric proteins that signal independently of
    RET ligands (GDNF family members).
  cell_types:
  - preferred_term: thyroid follicular cell
    term:
      id: CL:0002258
      label: thyroid follicular cell
  biological_processes:
  - preferred_term: receptor signaling protein tyrosine kinase activity
    modifier: INCREASED
    term:
      id: GO:0006468
      label: protein phosphorylation
  locations:
  - preferred_term: thyroid gland
    term:
      id: UBERON:0002046
      label: thyroid gland
  downstream:
  - target: RAS-MAPK Pathway Activation
    description: RET fusion activates RAS-RAF-MEK-ERK signaling cascade
  - target: PI3K-AKT Pathway Activation
    description: RET fusion stimulates PI3K-AKT survival signaling
- name: RAS-MAPK Pathway Activation
  description: >-
    Constitutive RET kinase activation drives the RAS-RAF-MEK-ERK signaling
    cascade, promoting uncontrolled thyroid follicular cell proliferation.
    This is a major effector of RET-mediated thyroid tumorigenesis.
  biological_processes:
  - preferred_term: MAPK cascade
    modifier: INCREASED
    term:
      id: GO:0000165
      label: MAPK cascade
- name: PI3K-AKT Pathway Activation
  description: >-
    RET activation recruits PI3K and stimulates AKT-mTOR signaling,
    promoting cell survival and resistance to apoptosis. Combined with
    MAPK activation, this drives thyroid cancer progression.
  biological_processes:
  - preferred_term: phosphatidylinositol 3-kinase signaling
    modifier: INCREASED
    term:
      id: GO:0043491
      label: phosphatidylinositol 3-kinase/protein kinase B signal transduction
histopathology:
- name: Papillary Thyroid Carcinoma
  finding_term:
    preferred_term: Thyroid Gland Papillary Carcinoma
    term:
      id: NCIT:C4035
      label: Thyroid Gland Papillary Carcinoma
  frequency: VERY_FREQUENT
  description: Papillary thyroid carcinomas are the most common thyroid cancers.
  evidence:
  - reference: PMID:21221869
    reference_title: "Papillary thyroid carcinoma variants."
    supports: PARTIAL
    snippet: "Papillary thyroid carcinomas are the most common thyroid cancers"
    explanation: Abstract notes papillary thyroid carcinoma as the most common thyroid cancer.

phenotypes:
- category: Endocrine
  name: Thyroid Nodule
  frequency: VERY_FREQUENT
  diagnostic: true
  description: >-
    Patients typically present with a thyroid nodule. RET fusion-positive
    PTCs may present at younger ages, particularly in radiation-associated
    cases.
  phenotype_term:
    preferred_term: Thyroid carcinoma
    term:
      id: HP:0002890
      label: Thyroid carcinoma
- category: Systemic
  name: Cervical Lymphadenopathy
  frequency: FREQUENT
  description: >-
    Cervical lymph node metastases are common at presentation. RET fusion-
    positive PTCs tend to have favorable overall prognosis despite lymph
    node involvement.
  phenotype_term:
    preferred_term: Lymphadenopathy
    term:
      id: HP:0002716
      label: Lymphadenopathy
- category: Constitutional
  name: Fatigue
  frequency: OCCASIONAL
  description: >-
    Constitutional symptoms are uncommon at diagnosis but may occur with
    advanced metastatic disease.
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
biochemical:
- name: Thyroglobulin
  notes: >-
    Serum thyroglobulin is the primary tumor marker for monitoring
    differentiated thyroid cancer after thyroidectomy. RET fusion-positive
    tumors generally maintain differentiation and thyroglobulin expression.
- name: RET Fusion Testing
  notes: >-
    RET fusions can be detected by FISH, RT-PCR, or next-generation
    sequencing (RNA-based NGS preferred). Testing is indicated for
    radioiodine-refractory disease.
genetic:
- name: RET
  association: Somatic Gene Fusions
  notes: >-
    RET fusions occur in 10-20% of papillary thyroid cancers. Common fusion
    partners include CCDC6 (RET/PTC1) and NCOA4 (RET/PTC3). Particularly
    enriched in radiation-induced thyroid cancer. Targetable with selective
    RET inhibitors.
  evidence:
  - reference: PMID:39502057
    reference_title: "[Correlations of Ultrasound Features With Gene Mutations and Pathologic Subtypes in Papillary Thyroid Carcinoma]."
    supports: PARTIAL
    snippet: "The common gene mutations in PTC include BRAF V600E,RET/PTC rearrangement,and RAS mutations."
    explanation: "Supports RET/PTC rearrangements as common mutations in papillary thyroid carcinoma."
treatments:
- name: Thyroidectomy
  description: >-
    Total thyroidectomy with lymph node dissection is the primary treatment.
    Most RET fusion-positive PTCs have excellent outcomes with surgery alone.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
- name: Radioiodine Therapy
  description: >-
    Adjuvant radioactive iodine therapy is used for intermediate and high-risk
    disease. RET fusion-positive tumors generally maintain radioiodine avidity
    better than BRAF-mutant tumors.
  treatment_term:
    preferred_term: radiation therapy
    term:
      id: MAXO:0000014
      label: radiation therapy
- name: Selpercatinib
  description: >-
    Highly selective RET inhibitor approved for RET fusion-positive thyroid
    cancer that is radioiodine-refractory. Demonstrates high response rates
    with durable disease control.
  treatment_term:
    preferred_term: targeted therapy
    term:
      id: NCIT:C93352
      label: Targeted Therapy
    therapeutic_agent:
    - preferred_term: selpercatinib
      term:
        id: NCIT:C134987
        label: Selpercatinib
- name: Pralsetinib
  description: >-
    Another selective RET inhibitor with activity in RET fusion-positive
    thyroid cancer. Similar efficacy profile to selpercatinib.
  treatment_term:
    preferred_term: targeted therapy
    term:
      id: NCIT:C93352
      label: Targeted Therapy
    therapeutic_agent:
    - preferred_term: pralsetinib
      term:
        id: NCIT:C132295
        label: Pralsetinib
- name: Lenvatinib or Sorafenib
  description: >-
    Multi-kinase inhibitors approved for radioiodine-refractory differentiated
    thyroid cancer. May be used but selective RET inhibitors are preferred
    for RET fusion-positive tumors.
  treatment_term:
    preferred_term: targeted therapy
    term:
      id: NCIT:C93352
      label: Targeted Therapy
    therapeutic_agent:
    - preferred_term: lenvatinib
      term:
        id: CHEBI:85994
        label: lenvatinib
disease_term:
  preferred_term: papillary thyroid carcinoma
  term:
    id: MONDO:0005075
    label: thyroid gland papillary carcinoma

classifications:
  icdo_morphology:
    classification_value: Carcinoma
  harrisons_chapter:
  - classification_value: cancer
  - classification_value: solid tumor
references:
- reference: DOI:10.1007/s40265-024-02040-5
  title: 'RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: 'RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future'
    supporting_text: 'RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future'
- reference: DOI:10.1038/s41698-023-00347-2
  title: Genomic landscape of 891 RET fusions detected across diverse solid tumor types
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors.
    supporting_text: In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors.
    evidence:
    - reference: DOI:10.1038/s41698-023-00347-2
      reference_title: Genomic landscape of 891 RET fusions detected across diverse solid tumor types
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.1158/1078-0432.ccr-23-0459
  title: 'FDA Approval Summary: Selpercatinib for the Treatment of Advanced <i>RET</i> Fusion-Positive Solid Tumors'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: 'FDA Approval Summary: Selpercatinib for the Treatment of Advanced <i>RET</i> Fusion-Positive Solid Tumors'
    supporting_text: On September 21, 2022, the FDA granted accelerated approval to selpercatinib (Retevmo, Eli Lilly and Company) for the treatment of adult patients with locally advanced or metastatic solid tumors with a rearranged during transfection (RET) gene fusion that have progressed on or following prior systemic treatment or who have no satisfactory alternative treatment options.
    evidence:
    - reference: DOI:10.1158/1078-0432.ccr-23-0459
      reference_title: 'FDA Approval Summary: Selpercatinib for the Treatment of Advanced <i>RET</i> Fusion-Positive Solid Tumors'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: On September 21, 2022, the FDA granted accelerated approval to selpercatinib (Retevmo, Eli Lilly and Company) for the treatment of adult patients with locally advanced or metastatic solid tumors with a rearranged during transfection (RET) gene fusion that have progressed on or following prior systemic treatment or who have no satisfactory alternative treatment options.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.1186/s12885-023-10852-z
  title: Highly sensitive droplet digital PCR for detection of RET fusion in papillary thyroid cancer
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Thyroid cancer is the most frequent malignancy of the endocrine system, of which papillary thyroid cancer (PTC) is the predominant form with a rapid increasing incidence worldwide.
    supporting_text: Thyroid cancer is the most frequent malignancy of the endocrine system, of which papillary thyroid cancer (PTC) is the predominant form with a rapid increasing incidence worldwide.
    evidence:
    - reference: DOI:10.1186/s12885-023-10852-z
      reference_title: Highly sensitive droplet digital PCR for detection of RET fusion in papillary thyroid cancer
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Thyroid cancer is the most frequent malignancy of the endocrine system, of which papillary thyroid cancer (PTC) is the predominant form with a rapid increasing incidence worldwide.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.1186/s42047-024-00157-1
  title: Predictive biomarkers in thyroid cancer in the current molecular-morphology paradigm
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Thyroid cancer is one of the most common types of cancer worldwide.
    supporting_text: Thyroid cancer is one of the most common types of cancer worldwide.
    evidence:
    - reference: DOI:10.1186/s42047-024-00157-1
      reference_title: Predictive biomarkers in thyroid cancer in the current molecular-morphology paradigm
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Thyroid cancer is one of the most common types of cancer worldwide.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.1200/jco.23.02503
  title: 'Durability of Response With Selpercatinib in Patients With <i>RET</i>-Activated Thyroid Cancer: Long-Term Safety and Efficacy From LIBRETTO-001'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Clinical trials frequently include multiple end points that mature at different times.
    supporting_text: Clinical trials frequently include multiple end points that mature at different times.
    evidence:
    - reference: DOI:10.1200/jco.23.02503
      reference_title: 'Durability of Response With Selpercatinib in Patients With <i>RET</i>-Activated Thyroid Cancer: Long-Term Safety and Efficacy From LIBRETTO-001'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Clinical trials frequently include multiple end points that mature at different times.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.1245/s10434-024-15500-9
  title: 'Defining the Genomic Landscape of Diffuse Sclerosing Papillary Thyroid Carcinoma: Prognostic Implications of RET Fusions'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: 'Defining the Genomic Landscape of Diffuse Sclerosing Papillary Thyroid Carcinoma: Prognostic Implications of RET Fusions'
    supporting_text: 'Defining the Genomic Landscape of Diffuse Sclerosing Papillary Thyroid Carcinoma: Prognostic Implications of RET Fusions'
- reference: DOI:10.1530/erc-23-0117
  title: 'RET fusion genes in pediatric and adult thyroid carcinomas: cohort characteristics and prognosis'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes.
    supporting_text: Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes.
    evidence:
    - reference: DOI:10.1530/erc-23-0117
      reference_title: 'RET fusion genes in pediatric and adult thyroid carcinomas: cohort characteristics and prognosis'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3389/fendo.2024.1346476
  title: Systemic treatments for radioiodine-refractory thyroid cancers
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Differentiated thyroid cancers (DTCs) constitute the primary histological subtype within thyroid cancer.
    supporting_text: Differentiated thyroid cancers (DTCs) constitute the primary histological subtype within thyroid cancer.
    evidence:
    - reference: DOI:10.3389/fendo.2024.1346476
      reference_title: Systemic treatments for radioiodine-refractory thyroid cancers
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Differentiated thyroid cancers (DTCs) constitute the primary histological subtype within thyroid cancer.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3389/pore.2023.1611138
  title: RET rearrangements are relevant to histopathologic subtypes and clinicopathological features in Thai papillary thyroid carcinoma patients
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer.
    supporting_text: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer.
    evidence:
    - reference: DOI:10.3389/pore.2023.1611138
      reference_title: RET rearrangements are relevant to histopathologic subtypes and clinicopathological features in Thai papillary thyroid carcinoma patients
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3390/cancers15133394
  title: The Difference in Clinical Behavior of Gene Fusions Involving RET/PTC Fusions and THADA/IGF2BP3 Fusions in Thyroid Nodules
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Molecular testing has been used as an adjunct to morphological evaluation in the workup of thyroid nodules.
    supporting_text: Molecular testing has been used as an adjunct to morphological evaluation in the workup of thyroid nodules.
    evidence:
    - reference: DOI:10.3390/cancers15133394
      reference_title: The Difference in Clinical Behavior of Gene Fusions Involving RET/PTC Fusions and THADA/IGF2BP3 Fusions in Thyroid Nodules
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Molecular testing has been used as an adjunct to morphological evaluation in the workup of thyroid nodules.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3390/cancers15164146
  title: RET-Altered Cancers—A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: RET alterations, such as fusions or mutations, drive the growth of multiple tumor types.
    supporting_text: RET alterations, such as fusions or mutations, drive the growth of multiple tumor types.
    evidence:
    - reference: DOI:10.3390/cancers15164146
      reference_title: RET-Altered Cancers—A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: RET alterations, such as fusions or mutations, drive the growth of multiple tumor types.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3390/cancers16010031
  title: 'Selective RET Inhibitors (SRIs) in Cancer: A Journey from Multi-Kinase Inhibitors to the Next Generation of SRIs'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: RET is a receptor tyrosine kinase that plays an important role in the development of neurons and kidneys.
    supporting_text: RET is a receptor tyrosine kinase that plays an important role in the development of neurons and kidneys.
    evidence:
    - reference: DOI:10.3390/cancers16010031
      reference_title: 'Selective RET Inhibitors (SRIs) in Cancer: A Journey from Multi-Kinase Inhibitors to the Next Generation of SRIs'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: RET is a receptor tyrosine kinase that plays an important role in the development of neurons and kidneys.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3390/cancers16162877
  title: 'Non-Small-Cell Lung Cancers (NSCLCs) Harboring RET Gene Fusion, from Their Discovery to the Advent of New Selective Potent RET Inhibitors: “Shadows and Fogs”'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: RET fusions are relatively rare in Non-Small-Cell Lung Cancers (NSCLCs), being around 1–2% of all NSCLCs.
    supporting_text: RET fusions are relatively rare in Non-Small-Cell Lung Cancers (NSCLCs), being around 1–2% of all NSCLCs.
    evidence:
    - reference: DOI:10.3390/cancers16162877
      reference_title: 'Non-Small-Cell Lung Cancers (NSCLCs) Harboring RET Gene Fusion, from Their Discovery to the Advent of New Selective Potent RET Inhibitors: “Shadows and Fogs”'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: RET fusions are relatively rare in Non-Small-Cell Lung Cancers (NSCLCs), being around 1–2% of all NSCLCs.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
- reference: DOI:10.3390/genes14071314
  title: 'Update on Molecular Diagnostics in Thyroid Pathology: A Review'
  found_in:
  - RET_Fusion_Thyroid_Cancer-deep-research-falcon.md
  findings:
  - statement: Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation.
    supporting_text: Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation.
    evidence:
    - reference: DOI:10.3390/genes14071314
      reference_title: 'Update on Molecular Diagnostics in Thyroid Pathology: A Review'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation.
      explanation: Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
📚

References & Deep Research

References

15
RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future
1 finding
RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future
"RET Inhibitors in RET Fusion-Positive Lung Cancers: Past, Present, and Future"
Genomic landscape of 891 RET fusions detected across diverse solid tumor types
1 finding
In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors.
"In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors."
Show evidence (1 reference)
DOI:10.1038/s41698-023-00347-2 SUPPORT Human Clinical
"In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors."
Deep research cited this publication as relevant literature for RET Fusion Thyroid Cancer.
FDA Approval Summary: Selpercatinib for the Treatment of Advanced <i>RET</i> Fusion-Positive Solid Tumors
1 finding
FDA Approval Summary: Selpercatinib for the Treatment of Advanced <i>RET</i> Fusion-Positive Solid Tumors
"On September 21, 2022, the FDA granted accelerated approval to selpercatinib (Retevmo, Eli Lilly and Company) for the treatment of adult patients with locally advanced or metastatic solid tumors with a rearranged during transfection (RET) gene fusion that have progressed on or following prior..."
Show evidence (1 reference)
DOI:10.1158/1078-0432.ccr-23-0459 SUPPORT Human Clinical
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Thyroid cancer is the most frequent malignancy of the endocrine system, of which papillary thyroid cancer (PTC) is the predominant form with a rapid increasing incidence worldwide.
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RET fusions are relatively rare in Non-Small-Cell Lung Cancers (NSCLCs), being around 1–2% of all NSCLCs.
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"Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation."
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Deep Research

1
Falcon
RET Fusion‑Positive Thyroid Cancer — Disease Characteristics Research Report
Edison Scientific Literature 55 citations 2026-04-05T22:15:49.841136

RET Fusion‑Positive Thyroid Cancer — Disease Characteristics Research Report

Target disease: RET fusion‑positive thyroid cancer (molecularly defined subset; most commonly RET fusion‑positive papillary thyroid carcinoma [PTC]) (duke2023fdaapprovalsummary pages 1-3, pekova2023retfusiongenes pages 1-2).
Category: Molecular subtype of differentiated thyroid carcinoma / papillary thyroid carcinoma (duke2023fdaapprovalsummary pages 1-3, pekova2023retfusiongenes pages 1-2).
MONDO ID: A specific MONDO term for “RET fusion‑positive thyroid cancer” was not identified in the retrieved sources; related thyroid cancer MONDO terms exist for other entities (e.g., medullary thyroid gland carcinoma MONDO_0015277, which is typically RET mutation‑driven, not RET fusion‑driven) (parimi2023genomiclandscapeof pages 1-2).

Executive summary

RET fusion‑positive thyroid cancers are thyroid epithelial malignancies driven by oncogenic RET gene rearrangements (RET/PTC). The fusions typically retain the RET kinase domain and use partner‑derived dimerization motifs to enable ligand‑independent RET activation and downstream MAPK/PI3K pathway signaling. RET fusions are enriched in pediatric PTC and in aggressive histologic variants (e.g., diffuse sclerosing PTC), and are associated with high rates of lymph node metastasis and meaningful distant metastasis risk. Clinically, selective RET inhibitors (selpercatinib, pralsetinib) have produced high objective response rates and durable disease control in advanced RET fusion‑positive thyroid cancer, and have become the key real‑world implementation of precision oncology for this subtype (wirth2024durabilityofresponse pages 1-2, clark2023selectiveretinhibitors pages 4-5, pekova2023retfusiongenes pages 1-2).

1. Disease Information

1.1 Definition and overview

RET fusion‑positive thyroid cancer refers to thyroid carcinomas harboring in‑frame chromosomal rearrangements involving RET that generate constitutively active RET fusion oncoproteins (duke2023fdaapprovalsummary pages 3-5). These fusions are most commonly observed in papillary thyroid cancer and are rare across most other solid tumors (duke2023fdaapprovalsummary pages 1-3).

1.2 Key identifiers and ontology mappings

  • Clinical/diagnostic context: RET fusions are molecular alterations in thyroid cancer and are used as predictive biomarkers for RET‑directed therapy selection (carneiro2024predictivebiomarkersin pages 8-9).
  • MeSH/ICD/Orphanet: Specific IDs were not retrieved in the available sources for the molecular subtype.
  • MONDO: No specific MONDO term for the molecular subtype was retrieved (see above).

1.3 Synonyms and alternative names

  • RET‑rearranged thyroid cancer (desilets2023retalteredcancers—atumoragnostic pages 13-15)
  • RET fusion‑positive thyroid cancer (wirth2024durabilityofresponse pages 1-2)
  • RET/PTC (RET fusion)–positive papillary thyroid carcinoma (pekova2023retfusiongenes pages 1-2)
  • Specific historical fusion labels: RET/PTC1 (CCDC6::RET), RET/PTC3 (NCOA4::RET) (pekova2023retfusiongenes pages 3-5).

1.4 Evidence source type

Evidence in this report is derived from aggregated disease‑level resources including multi‑institution cohorts, pan‑tumor NGS datasets, clinical trials (LIBRETTO‑001, ARROW), ClinicalTrials.gov trial records, and FDA regulatory reviews (parimi2023genomiclandscapeof pages 1-2, wirth2024durabilityofresponse pages 1-2, duke2023fdaapprovalsummary pages 1-3, NCT03157128 chunk 1).

2. Etiology

2.1 Disease causal factors

The primary causal factor is an acquired somatic RET gene fusion (RET rearrangement), which creates an oncogenic fusion protein with constitutive kinase activation (desilets2023retalteredcancers—atumoragnostic pages 2-4, pekova2023retfusiongenes pages 11-12).

2.2 Risk factors

Age / pediatric enrichment: In a large cohort (n=993 PTC), RET fusions were detected in 11.4% of PTC overall, and were threefold more frequent in pediatric/adolescent patients (29.8%) than adults (8.7%) (Pekova 2023; published Sep 2023; https://doi.org/10.1530/ERC-23-0117) (pekova2023retfusiongenes pages 1-2).
Radiation exposure: RET/PTC events have been linked to ionizing radiation exposure and radiation‑associated subtypes in thyroid cancer literature (e.g., post‑Chernobyl series and “short radiation latency” associations noted in a 2023 Thai PTC study) (Khonrak 2023; published Apr 2023; https://doi.org/10.3389/pore.2023.1611138) (khonrak2023retrearrangementsare pages 1-2, khonrak2023retrearrangementsare pages 13-13).

2.3 Protective factors

No clear protective genetic or environmental factors specific to acquiring RET fusions were identified in the retrieved sources. One cohort cited an association between coexisting chronic lymphocytic thyroiditis and lower recurrence rates in PTC broadly, but this is not a proven protective factor for RET‑fusion initiation (pekova2023retfusiongenes pages 12-13).

2.4 Gene–environment interactions

The strongest candidate interaction is DNA damage (e.g., radiation) contributing to chromosomal rearrangements that generate RET/PTC fusions, as discussed in the radiation‑associated literature summarized in Thai PTC data and cited post‑Chernobyl series (khonrak2023retrearrangementsare pages 13-13).

3. Phenotypes

3.1 Clinical presentation and phenotype spectrum

RET fusion‑positive thyroid cancer is most often PTC and is frequently associated with aggressive locoregional features.

Aggressive metastatic phenotype (large cohort): In a large Czech cohort of RET fusion‑positive PTC, lymph node metastasis occurred in 75.2% and distant metastasis in 18.6%; metastases were also reported even among microcarcinomas (Pekova 2023; https://doi.org/10.1530/ERC-23-0117) (pekova2023retfusiongenes pages 1-2).

Diffuse sclerosing PTC enrichment and recurrence risk: In diffuse sclerosing PTC (DSPTC), RET fusions were the most common alteration (32% [13/41]), and RET fusion status predicted worse recurrence‑free survival (5‑year RFS 46% vs 84% for other drivers; HR 7.69, p=0.017) (Scholfield 2024; published Jun 2024; https://doi.org/10.1245/s10434-024-15500-9) (scholfield2024definingthegenomic pages 1-3).

Small descriptive cohort: In a retrospective series of operated nodules, RET/PTC fusion‑positive nodules were all malignant (100%) and had a high nodal metastasis rate (80% [4/5]), with 60% diffuse sclerosing variant histology (Tali 2023; published Jun 2023; https://doi.org/10.3390/cancers15133394) (tali2023thedifferencein pages 1-2).

3.2 Suggested HPO terms (examples)

  • Cervical lymph node metastasis — HP:0005981 (suggested; aligns with frequent LNM) (pekova2023retfusiongenes pages 1-2)
  • Distant metastasis — HP:0002664 (suggested) (pekova2023retfusiongenes pages 1-2)
  • Extrathyroidal extension (locally invasive tumor) — HP:0100836 (suggested; observed in subsets) (tali2023thedifferencein pages 4-6)

3.3 Quality of life impact

Direct thyroid‑specific QoL metrics for RET fusion‑positive thyroid cancer were not extracted from the retrieved texts. QoL preservation/improvement under selpercatinib was reported across RET‑driven cancers in LIBRETTO‑001, but thyroid‑specific quantitative QoL outcomes were not available in the extracted evidence (wirth2024durabilityofresponse pages 7-7).

4. Genetic / Molecular Information

4.1 Causal genes

  • RET (ret proto‑oncogene), acting as an oncogenic driver via fusion/rearrangement (desilets2023retalteredcancers—atumoragnostic pages 2-4).

4.2 Pathogenic variant class

The defining alteration is a structural rearrangement (gene fusion) producing an in‑frame RET fusion (RET/PTC). Key fusions retain the RET kinase domain (3′ RET) and incorporate a 5′ partner providing dimerization capability (desilets2023retalteredcancers—atumoragnostic pages 2-4, pekova2023retfusiongenes pages 11-12).

4.3 Common fusion partners and frequencies

In a large RET fusion‑positive PTC cohort (n=113 RET+ PTCs):
CCDC6::RET: 59.3% (67/113)
NCOA4::RET: 22.1% (25/113)
Other partners included FBXO41, SSBP2, ZMYM2 (Pekova 2023; https://doi.org/10.1530/ERC-23-0117) (pekova2023retfusiongenes pages 3-5).

In a pan‑tumor NGS dataset, thyroid papillary carcinoma had RET fusion prevalence 9.09% (109/1199), and across the overall RET fusion cohort common partners included NCOA4 (32.6%) and CCDC6 (29.9%) (Parimi 2023; published Jan 2023; https://doi.org/10.1038/s41698-023-00347-2) (parimi2023genomiclandscapeof pages 1-2).

4.4 Mechanism / functional consequences

RET fusions: 1) retain the RET tyrosine kinase domain in the 3′ fusion portion;
2) are placed under control of a transcriptionally active partner; and
3) often acquire partner‑derived dimerization motifs, enabling ligand‑independent dimerization, phosphorylation, and constitutive signaling (carneiro2024predictivebiomarkersin pages 8-9, desilets2023retalteredcancers—atumoragnostic pages 2-4).

Downstream pathways include MAPK‑ERK, PI3K‑AKT, and JAK‑STAT signaling, supporting proliferative/survival programs (carneiro2024predictivebiomarkersin pages 8-9, chen2024retinhibitorsin pages 1-3).

4.5 Suggested GO biological process terms (examples)

  • ERK1/ERK2 cascade — GO:0070371 (suggested; aligns with MAPK activation) (carneiro2024predictivebiomarkersin pages 8-9)
  • Phosphatidylinositol 3‑kinase signaling — GO:0014065 (suggested; aligns with PI3K‑AKT) (carneiro2024predictivebiomarkersin pages 8-9)

4.6 Suggested Cell Ontology (CL) terms (examples)

  • Thyroid follicular cell — CL:0002262 (suggested; PTC cell of origin)
  • Neoplastic thyroid epithelial cell — not a standard CL term; would be represented as thyroid follicular cell with “neoplastic” context.

5. Environmental Information

5.1 Environmental factors

Ionizing radiation exposure has a longstanding association with RET/PTC rearrangements (notably pediatric and post‑radiation clusters), summarized in contemporary PTC literature and referenced in 2023 Thai PTC analysis (khonrak2023retrearrangementsare pages 1-2, khonrak2023retrearrangementsare pages 13-13).

5.2 Lifestyle factors / infectious agents

No specific lifestyle or infectious etiologies were identified in the retrieved sources.

6. Mechanism / Pathophysiology

6.1 Causal chain (driver → pathway → phenotype)

Trigger/event: Somatic chromosomal rearrangement generating an in‑frame RET fusion (RET/PTC).
Upstream mechanism: Fusion retains the RET kinase domain and partner‑derived interaction motifs → ligand‑independent dimerization and RET autophosphorylation (desilets2023retalteredcancers—atumoragnostic pages 2-4, pekova2023retfusiongenes pages 11-12).
Downstream signaling: Activation of MAPK‑ERK and PI3K‑AKT (and JAK‑STAT) cascades promotes proliferation, survival, migration, and oncogenic transformation (carneiro2024predictivebiomarkersin pages 8-9, chen2024retinhibitorsin pages 1-3).
Clinical phenotype: Higher probability of nodal metastasis and clinically aggressive variants (DSPTC association), with high disease‑specific survival in intensively treated cohorts but higher recurrence risk in certain subtypes (scholfield2024definingthegenomic pages 1-3, pekova2023retfusiongenes pages 1-2).

6.2 Immune system involvement

Evidence linking RET alterations to immune microenvironment changes in PTC exists (RET variation associated with immune infiltration patterns), but this was not specific to RET fusions and is not used here as defining evidence for RET fusion‑positive disease (pekova2023retfusiongenes pages 1-2).

6.3 Molecular profiling

Comprehensive multi‑omics signatures specific to RET fusion‑positive thyroid cancer were not extracted in the available sources.

7. Anatomical Structures Affected

7.1 Organ and tissue level

  • Primary organ: thyroid gland (UBERON:0002046; suggested).
  • Frequent regional spread: cervical lymph nodes (supported by high LNM rates) (pekova2023retfusiongenes pages 1-2).

7.2 Suggested UBERON terms (examples)

  • Thyroid gland — UBERON:0002046
  • Cervical lymph node — UBERON:0002509 (suggested)

8. Temporal Development

8.1 Onset

RET fusion‑positive PTC is enriched in younger patients, including pediatric and adolescent presentations (pekova2023retfusiongenes pages 1-2, khonrak2023retrearrangementsare pages 1-2).

8.2 Progression and course

In a large cohort, metastases (nodal and distant) were frequent, but “true recurrences” were rare (2.4%, adults only) and disease‑specific survival remained high (10‑year 95%) (pekova2023retfusiongenes pages 1-2). In DSPTC, RET fusions identified a higher recurrence‑risk subgroup (5‑year RFS 46%) (scholfield2024definingthegenomic pages 1-3).

9. Inheritance and Population

9.1 Epidemiology

RET fusions are most commonly found in PTC.

Reported prevalence ranges (study‑dependent): * FDA review: RET fusions are observed most commonly in papillary thyroid cancer (5–10%) (Duke 2023; published Sep 15, 2023; https://doi.org/10.1158/1078-0432.CCR-23-0459) (duke2023fdaapprovalsummary pages 1-3).
DNA‑NGS cohort: thyroid papillary carcinoma RET fusion prevalence 9.09% (109/1199) (Parimi 2023; Jan 2023; https://doi.org/10.1038/s41698-023-00347-2) (parimi2023genomiclandscapeof pages 1-2).
Czech cohort: RET fusions 11.4% (113/993) of PTC; 29.8% pediatric/adolescent vs 8.7% adult (Pekova 2023; Sep 2023; https://doi.org/10.1530/ERC-23-0117) (pekova2023retfusiongenes pages 1-2).

9.2 Inheritance

RET fusions in thyroid cancer are generally somatic driver events rather than inherited. (Germline RET alterations are relevant to MEN2 and medullary thyroid carcinoma, not the RET‑fusion PTC subtype.) (alzumaili2023updateonmolecular pages 5-7).

10. Diagnostics

10.1 Recommended testing approach (current understanding)

Preferred approach: Comprehensive NGS, ideally including DNA and RNA interrogation for fusions, is emphasized as the best method to identify RET fusions and concomitant alterations (desilets2023retalteredcancers—atumoragnostic pages 1-2, desilets2023retalteredcancers—atumoragnostic pages 8-9).

Alternatives/adjuncts: RT‑PCR and FISH may be used when NGS is unavailable, with known limitations (partner dependence, inability to identify partners/breakpoints for FISH) (desilets2023retalteredcancers—atumoragnostic pages 8-9, chen2024retinhibitorsin pages 3-5).

10.2 Test performance and key data

IHC: Sensitivity/specificity for RET IHC reported as 87%/82%, but performance is partner dependent and it is “not recommended as a clinical screening assay for oncogenic RET alterations” (desilets2023retalteredcancers—atumoragnostic pages 8-9).

FISH: Break‑apart FISH sensitivity is fusion‑partner dependent; in one series, thyroid cancer sensitivity was 88%, and partner‑specific sensitivity examples included 100% for KIF5B/CCDC6 but 67% for NCOA4 (desilets2023retalteredcancers—atumoragnostic pages 8-9).

ddPCR (CCDC6::RET): ddPCR improved analytical sensitivity over qRT‑PCR with LoD 128.0 copies/reaction vs 430.7 copies/reaction; in 112 clinical PTC samples ddPCR detected 13.4% (15/112) positives vs 9.8% (11/112) by qRT‑PCR (Chen 2023; Apr 2023; https://doi.org/10.1186/s12885-023-10852-z) (chen2023highlysensitivedroplet pages 1-2, chen2023highlysensitivedroplet pages 2-4).

Commercial thyroid nodule platforms: ThyroSeq v3 (DNA+RNA panel) reports overall performance for nodule classification of 94% sensitivity, 89% specificity, 92% accuracy, and includes RET fusions; Afirma XA uses whole‑transcriptome RNA sequencing and enumerates fusions including CCDC6::RET and NCOA4::RET (Alzumaili 2023; Jun 2023; https://doi.org/10.3390/genes14071314) (alzumaili2023updateonmolecular pages 5-7).

10.3 Differential diagnosis

RET fusions overlap with other fusion‑driven thyroid cancers (e.g., NTRK fusions) and mutation‑driven PTC (BRAF, RAS). Molecular testing distinguishes these entities for targeted therapy selection (alzumaili2023updateonmolecular pages 5-7, pekova2023retfusiongenes pages 1-2).

11. Outcome / Prognosis

Disease‑specific survival (large cohort): In RET fusion‑positive PTC, 2‑, 5‑, 10‑year disease‑specific survival were 99%, 96%, 95%, despite high metastatic burden, suggesting aggressive biology but potentially favorable survival with intensive multimodal management (pekova2023retfusiongenes pages 1-2).

Subtype‑specific recurrence risk: In DSPTC, RET fusions predicted worse recurrence‑free survival (5‑year RFS 46%) and were the only independent recurrence predictor (HR 7.69) (scholfield2024definingthegenomic pages 1-3).

12. Treatment

12.1 Targeted therapy (current standard for advanced RET fusion‑positive disease)

Selpercatinib (RET inhibitor)

Regulatory indication (FDA): FDA accelerated approval (May 8, 2020) includes adult and pediatric (≥12 years) patients with advanced/metastatic RET fusion‑positive thyroid cancer requiring systemic therapy and RAI‑refractory (if RAI appropriate) (Duke 2023; https://doi.org/10.1158/1078-0432.CCR-23-0459) (duke2023fdaapprovalsummary pages 1-3).

Dose concept (FDA review): 120 mg orally BID if <50 kg; 160 mg orally BID if ≥50 kg (duke2023fdaapprovalsummary pages 3-5).

Efficacy (LIBRETTO‑001 long‑term update): At January 2023 cutoff, RET fusion‑positive thyroid cancer cohort (n=66) demonstrated:
ORR 95.8% in treatment‑naïve patients (n=24) and 85.4% in previously treated patients (n=41) (Wirth 2024; published Sep 2024; https://doi.org/10.1200/JCO.23.02503) (wirth2024durabilityofresponse pages 7-7).
Median PFS: not reached (treatment‑naïve) and 27.4 months (pretreated) (wirth2024durabilityofresponse pages 1-2, wirth2024durabilityofresponse pages 7-7).

Pralsetinib (RET inhibitor)

ARROW trial efficacy (previously treated RET fusion+ thyroid cancer): ORR 90.9% (95% CI 70.8–98.9) in 22 previously treated patients (review summary; Chen 2024; published Oct 2024; https://doi.org/10.3389/fendo.2024.1346476) (chen2024systemictreatmentsfor pages 7-8).
Another synthesis reports ORR 89% (95% CI 52–100) in RET fusion‑positive thyroid cancer cohorts (Clark 2023; published Dec 2023; https://doi.org/10.3390/cancers16010031) (clark2023selectiveretinhibitors pages 4-5).

Key toxicities (grade ≥3 TRAEs, thyroid cancer population in summary): hypertension 17%, neutropenia 13%, lymphopenia 12%, anemia 10%; pneumonitis 4%; discontinuation 4%; treatment‑related death 1% (clark2023selectiveretinhibitors pages 4-5).

12.2 Treatment resistance (mechanisms and emerging strategies)

Acquired resistance to selective RET inhibitors may involve: * On‑target RET mutations, especially solvent‑front RET G810 substitutions (G810X); also RET L730V/I, Y806, V738 alterations (desilets2023retalteredcancers—atumoragnostic pages 15-16).
Bypass mechanisms, including MET amplification and MAPK reactivation via emergent KRAS/NRAS/BRAF* alterations (desilets2023retalteredcancers—atumoragnostic pages 15-16).
Next‑generation RET inhibitors are being developed with activity against solvent‑front and gatekeeper mutants (e.g., preclinical development described in 2023 review; APS03118 potency against G810 and V804 mutants, with PDX/intracranial models) (clark2023selectiveretinhibitors pages 9-11).

12.3 Suggested MAXO terms (examples)

  • Targeted therapy — MAXO:0000058 (suggested)
  • Tyrosine kinase inhibitor therapy — MAXO:0000647 (suggested)
  • Molecularly targeted therapy based on gene fusion — (suggested; if available in MAXO)

12.4 Suggested CHEBI entities

The CHEBI IDs for selpercatinib and pralsetinib were not retrieved in the available sources.

13. Prevention

Primary prevention for RET fusion acquisition is not established. Secondary prevention consists of early detection and appropriate molecular testing to enable precision therapy. Specific screening strategies for RET fusions in the general population are not described in the retrieved sources.

14. Other species / natural disease

Not identified in retrieved sources.

15. Model organisms / experimental models

Selpercatinib preclinical models: FDA review notes selpercatinib activity in in vitro/in vivo models with CCDC6‑RET, KIF5B‑RET, and RET resistance/driver mutations (RET V804M, M918T), and in a mouse intracranial model with a patient‑derived RET fusion‑positive tumor (Duke 2023; https://doi.org/10.1158/1078-0432.CCR-23-0459) (duke2023fdaapprovalsummary pages 3-5).

Engineered resistance models: Engineered Ba/F3 fusion models (e.g., Ba/F3 KIF5B‑RET) and derived resistant lines have been used to characterize on‑target resistance mutations under RET inhibitor pressure (Spitaleri 2024; published Aug 2024; https://doi.org/10.3390/cancers16162877) (spitaleri2024nonsmallcelllungcancers pages 11-12).

PDX and intracranial orthotopic models for next‑gen inhibitors: A 2023 review describes PDX and intracranial orthotopic models including CCDC6‑RET and CCDC6‑RET V804M, demonstrating feasibility of brain‑penetrant next‑generation RET inhibition strategies aimed at resistance (clark2023selectiveretinhibitors pages 9-11).

Evidence table (structured summary)

Study (first author, year) Population/cohort Method Key findings (with exact numbers) URL/DOI
Parimi, 2023 Pan-tumor cohort of 891 RET fusion-positive advanced solid tumors; thyroid papillary carcinoma subset Tissue-based DNA hybrid-capture NGS; subset with liquid biopsy hybrid-capture NGS RET fusions were most frequent in lung adenocarcinoma and thyroid papillary carcinoma; thyroid papillary carcinoma prevalence was 9.09% (109/1199). In the pan-tumor RET+ cohort, common partners included NCOA4 32.6% and CCDC6 29.9%. Tissue-liquid concordance for RET fusion detection was 100% (8/8) when composite tumor fraction was >1% (parimi2023genomiclandscapeof pages 1-2) https://doi.org/10.1038/s41698-023-00347-2
Pekova, 2023 1,564 thyroid tissue samples including 1,164 carcinomas and 993 PTCs; pediatric and adult patients Driver testing followed by extensive RET fusion analysis using NGS and real-time PCR RET fusions were detected exclusively in PTC, in 113/993 (11.4%) patients; prevalence was 29.8% in pediatric/adolescent patients vs 8.7% in adults. 20 RET fusion types were identified. Aggressiveness: lymph node metastasis 75.2%, distant metastasis 18.6%, true recurrences 2.4%. Disease-specific survival: 2-year 99%, 5-year 96%, 10-year 95% (pekova2023retfusiongenes pages 1-2) https://doi.org/10.1530/ERC-23-0117
Pekova, 2023 RET fusion-positive PTC subset from the above cohort (n=113) Targeted RNA sequencing panels with real-time PCR confirmation Fusion partners: CCDC6 67/113 (59.3%), NCOA4 25/113 (22.1%); additional recurrent/novel partners included FBXO41, SSBP2, ZMYM2. Cohort characteristics: 75.2% female, mean age 32.6 ± 17.4 years, mean tumor size 21.8 ± 12.6 mm (pekova2023retfusiongenes pages 3-5) https://doi.org/10.1530/ERC-23-0117
Chen, 2023 TCGA PTC cohort (402) and clinical PTC samples (112) ddPCR assay for CCDC6::RET vs qRT-PCR; Sanger confirmation In TCGA, RET fusions were present in 25/402 (6.2%) PTCs; CCDC6::RET accounted for 15/25 (60%) of RET-positive cases. In clinical samples, qRT-PCR detected 11/112 (9.8%) CCDC6::RET-positive cases, while ddPCR detected 15/112 (13.4%), adding 4 extra positives. Limit of detection: 128.0 copies/reaction for ddPCR vs 430.7 copies/reaction for qRT-PCR (chen2023highlysensitivedroplet pages 1-2, chen2023highlysensitivedroplet pages 2-4) https://doi.org/10.1186/s12885-023-10852-z
Khonrak, 2023 Thai PTC cohort (n=83) qRT-PCR on FFPE samples for CCDC6::RET and NCOA4::RET Background prevalence noted as ~10–40% of adult PTC and 45–60% of pediatric/adolescent sporadic PTC; CCDC6 and NCOA4 together account for ~90% of RET::PTC fusions. Phenotype: CCDC6::RET associated with classic subtype and absence of angio/lymphatic invasion; NCOA4::RET associated with tall-cell subtype, angio/lymphatic invasion, and lymph node metastasis (khonrak2023retrearrangementsare pages 1-2) https://doi.org/10.3389/pore.2023.1611138
Tali, 2023 Molecularly tested operated thyroid nodules; RET/PTC-positive nodules (n=5) Retrospective single-center study using preoperative molecular testing and final pathology All 5/5 (100%) RET/PTC nodules were malignant and Bethesda V/VI. Histology: 60% (3/5) diffuse sclerosing variant, 40% (2/5) classical PTC. Aggressiveness: 80% (4/5) lymph node metastasis, 20% (1/5) extrathyroidal extension; one nodal metastasis case had extranodal spread (tali2023thedifferencein pages 4-6, tali2023thedifferencein pages 1-2) https://doi.org/10.3390/cancers15133394
Scholfield, 2024 Diffuse sclerosing papillary thyroid carcinoma (DSPTC) tumors (n=41) MSK-IMPACT 505-gene panel sequencing RET fusions were the most common alteration: 32% (13/41). RET fusion-positive tumors occurred at younger age and had more aggressive features and higher T-stage. Outcome: 5-year recurrence-free survival 46% vs 84% for other drivers; multivariable analysis: RET fusion status independent predictor of recurrence (HR 7.69, p=0.017) (scholfield2024definingthegenomic pages 1-3) https://doi.org/10.1245/s10434-024-15500-9
Selpercatinib (LIBRETTO-001), Wirth, 2024 RET fusion-positive thyroid cancer in LIBRETTO-001; treatment-naïve (n=24) and pretreated (n=41) Phase I/II clinical trial long-term update At January 2023 cutoff, ORR was 95.8% (95% CI 78.9–99.9) in treatment-naïve patients and 85.4% (95% CI 70.8–94.4) in pretreated patients; complete responses 20.8% and 12.2%, respectively. Median follow-up: 24.9 months (naïve) and 30.4 months (pretreated). Median PFS: not reached (naïve) and 27.4 months (pretreated). 3-year PFS 87.3% in treatment-naïve TC; 3-year overall survival 94.4% (naïve) and 65.5% (pretreated) (wirth2024durabilityofresponse pages 1-2, wirth2024durabilityofresponse pages 7-7, wirth2024durabilityofresponse media 08850bf1) https://doi.org/10.1200/JCO.23.02503
Selpercatinib (regulatory summary), Duke, 2023 FDA summary referencing prior thyroid approval and broader RET fusion-positive solid tumor activity FDA review of LIBRETTO-001 FDA notes RET fusions are seen most commonly in papillary thyroid cancer at 5–10%. For thyroid cancer, prior approval covered adult and pediatric patients ≥12 years with advanced/metastatic RET fusion-positive thyroid cancer requiring systemic therapy and RAI-refractory if RAI appropriate. Selpercatinib activity supported by preclinical models including CCDC6-RET (duke2023fdaapprovalsummary pages 3-5, duke2023fdaapprovalsummary pages 1-3) https://doi.org/10.1158/1078-0432.CCR-23-0459
Pralsetinib (ARROW), Clark, 2023 RET fusion-positive thyroid cancer cohort in ARROW (n=20 enrolled; efficacy summarized across thyroid cohorts) Phase I/II multicohort trial summary Reported ORR in RET fusion-positive thyroid cancer was 89% (95% CI 52–100). Safety in RET-altered thyroid cancer: grade ≥3 TRAEs included hypertension 17%, neutropenia 13%, lymphopenia 12%, anemia 10%; serious TRAEs in 15%; pneumonitis in 4%; discontinuation due to TRAEs 4%; treatment-related death 1% (clark2023selectiveretinhibitors pages 4-5) https://doi.org/10.3390/cancers16010031
Pralsetinib (ARROW), Chen, 2024 Previously treated RET fusion-positive thyroid cancer patients (n=22) Review summarizing ARROW (NCT03037385) ORR was 90.9% (95% CI 70.8–98.9) in 22 previously treated RET fusion-positive thyroid cancer patients; review notes FDA approval for RET fusion-positive thyroid cancer in December 2020 (chen2024systemictreatmentsfor pages 7-8) https://doi.org/10.3389/fendo.2024.1346476
Pralsetinib (ARROW), Desilets, 2023 Previously treated RET fusion-positive thyroid cancer cohort Tumor-agnostic review summarizing ARROW Reported ORR for previously treated RET fusion-positive thyroid cancer was 89%. Common grade 3–4 adverse events across studies included neutropenia 13–31%, hypertension 7–17%, anemia 10–14%, lymphopenia 9–12%, increased creatine phosphokinase 6%, and treatment-emergent pneumonitis 4% (desilets2023retalteredcancers—atumoragnostic pages 13-15) https://doi.org/10.3390/cancers15164146

Table: This table compiles key cohort-level evidence on RET fusion prevalence, dominant fusion partners, clinicopathologic aggressiveness, and selective RET inhibitor outcomes in RET fusion-positive thyroid cancer. It is useful as a compact evidence map for diagnosis, prognosis, and treatment selection.

Key “expert opinion” synthesis (from authoritative sources)

  • Testing: Comprehensive NGS (preferably DNA+RNA) is emphasized as the best way to identify RET fusions and concurrent alterations; IHC is not recommended as a screening assay due to variable performance (desilets2023retalteredcancers—atumoragnostic pages 8-9, chen2024retinhibitorsin pages 3-5).
  • Clinical importance: RET fusions are common enough in PTC to justify systematic testing strategies, especially in advanced disease where selective RET inhibitors provide high response rates (duke2023fdaapprovalsummary pages 1-3, wirth2024durabilityofresponse pages 1-2).
  • Therapeutic landscape: Selective RET inhibitors are now standard precision options, but resistance via RET solvent‑front mutations and bypass pathways motivates development of next‑generation inhibitors and combination approaches (desilets2023retalteredcancers—atumoragnostic pages 15-16, clark2023selectiveretinhibitors pages 9-11).

Notable gaps / limitations of retrieved evidence

  • A specific MONDO/MeSH/ICD identifier for the fusion‑positive molecular subtype was not retrieved.
  • Some requested items (thyroid‑specific QoL outcomes; pralsetinib DoR/PFS; detailed treatment algorithms from society guidelines) were not present in the accessible text segments and would require targeted retrieval of the primary ARROW thyroid manuscript and thyroid cancer clinical guidelines.

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