0
Mappings
0
Definitions
0
Inheritance
5
Pathophysiology
1
Histopathology
6
Phenotypes
5
Pathograph
4
Genes
6
Treatments
3
Subtypes
0
Differentials
0
Datasets
0
Trials
0
Models
🏷

Classifications

Harrison's Chapter
cancer hematologic malignancy
ICD-O Morphology
Lymphoma

Subtypes

3
Germinal Center B-cell (GCB) Type
DLBCL with gene expression profile resembling normal germinal center B cells. Characterized by expression of GCB markers (CD10, BCL6, GCET1). Often harbors BCL2 translocation and EZH2 mutations. Better prognosis than ABC type with R-CHOP, with approximately 60-70% cure rates.
Activated B-cell (ABC) Type
DLBCL with gene expression profile resembling activated peripheral B cells. Shows constitutive NF-kB activation, often through mutations in CD79A/B, CARD11, MYD88, or deletions of A20. Inferior prognosis with standard R-CHOP. May benefit from targeted agents inhibiting NF-kB pathway.
High-Grade B-cell Lymphoma with MYC and BCL2 Rearrangements
Double-hit lymphoma (DHL) with concurrent MYC and BCL2 translocations, or triple-hit with MYC, BCL2, and BCL6 rearrangements. Highly aggressive with poor outcomes to standard R-CHOP. Requires intensified therapy.

Pathophysiology

5
Germinal Center B-cell Origin
DLBCL arises from germinal center or post-germinal center B cells undergoing somatic hypermutation and class switch recombination. These processes introduce DNA double-strand breaks that can lead to oncogenic translocations. The cell of origin determines molecular subtype and clinical behavior.
centrocyte link centroblast link
lymph node link
BCL2 Overexpression and Apoptosis Resistance
BCL2 translocation t(14;18) occurs in approximately 30% of GCB-DLBCL, placing BCL2 under immunoglobulin enhancer control. Resulting BCL2 overexpression blocks the mitochondrial apoptosis pathway, allowing survival of cells that would normally die in the germinal center.
apoptotic process link ↓ DECREASED
MYC-Driven Proliferation
MYC rearrangements occur in 10-15% of DLBCL, most commonly with IGH but also with non-immunoglobulin partners. MYC overexpression drives cellular proliferation and metabolism. When combined with BCL2 rearrangement (double-hit lymphoma), creates highly aggressive disease.
cell population proliferation link ↑ INCREASED
NF-kB Constitutive Activation
ABC-DLBCL shows constitutive NF-kB activation through various mechanisms including BCR signaling mutations (CD79A/B), CARD11 mutations, MYD88 L265P mutation, or A20 deletion. NF-kB promotes survival and contributes to the aggressive behavior of ABC subtype.
B cell link
signal transduction link ↑ INCREASED
Lymphoma Cell Accumulation
The combination of blocked apoptosis, enhanced proliferation, and constitutive survival signaling leads to aggressive expansion of large B-cell lymphoma involving lymph nodes and extranodal sites.
B cell link
lymph node link

Histopathology

1
Diffuse Large B-Cell Lymphoma VERY_FREQUENT
Diffuse large B-cell lymphoma is the most common pathologic subtype.
Show evidence (1 reference)
PMID:16613685 SUPPORT
"Diffuse large B-cell lymphoma is the most common pathologic subtype."
Abstract notes DLBCL as the most common pathologic subtype.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Diffuse Large B-Cell Lymphoma 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
Blood 1
Anemia FREQUENT Anemia (HP:0001903)
Cardiovascular 2
Lymphadenopathy VERY_FREQUENT Lymphadenopathy (HP:0002716)
Show evidence (1 reference)
PMID:29167021 SUPPORT Human Clinical
"Patients most often present with a rapidly growing tumour mass in single or multiple, nodal or extranodal sites."
This comprehensive review confirms that rapidly growing nodal masses (lymphadenopathy) are the most common presentation of DLBCL.
Splenomegaly OCCASIONAL Splenomegaly (HP:0001744)
Constitutional 2
Night Sweats FREQUENT Night sweats (HP:0030166)
Fatigue VERY_FREQUENT Fatigue (HP:0012378)
Growth 1
Weight Loss FREQUENT Weight loss (HP:0001824)
🧬

Genetic Associations

4
BCL2 Translocation (GCB Subtype Marker)
MYC Rearrangement (Adverse Prognostic Marker)
MYD88 L265P Mutation (ABC Subtype Marker)
BCL6 Rearrangement (Lymphoma Driver)
💊

Treatments

6
R-CHOP Immunochemotherapy
Action: chemotherapy MAXO:0000647
Agent: cyclophosphamide doxorubicin vincristine prednisone
Rituximab (anti-CD20), cyclophosphamide, doxorubicin, vincristine, and prednisone is the standard frontline regimen. Six cycles cure approximately 60% of patients overall, with better outcomes in GCB subtype and localized disease.
Show evidence (1 reference)
PMID:11807147 SUPPORT Human Clinical
"The rate of complete response was significantly higher in the group that received CHOP plus rituximab than in the group that received CHOP alone (76 percent vs. 63 percent, P=0.005)"
The landmark GELA trial established R-CHOP as the standard of care for DLBCL by demonstrating significantly improved complete response rates.
Polatuzumab Vedotin plus R-CHP
Action: pharmacotherapy MAXO:0000058
Agent: polatuzumab vedotin
CD79b-directed antibody-drug conjugate combined with rituximab, cyclophosphamide, doxorubicin, and prednisone. Approved as frontline therapy providing improved outcomes compared to R-CHOP.
Intensive Chemotherapy for Double-Hit Lymphoma
Action: chemotherapy MAXO:0000647
High-grade lymphomas with MYC and BCL2 rearrangements require intensified regimens such as DA-EPOCH-R or R-CODOX-M/R-IVAC rather than standard R-CHOP. Outcomes remain inferior to non-double-hit DLBCL.
CAR-T Cell Therapy
Action: immunotherapy Ontology label: immunotherapy procedure MAXO:0001002
CD19-directed CAR-T cells (axicabtagene ciloleucel, lisocabtagene maraleucel, tisagenlecleucel) are approved for relapsed/refractory DLBCL after two or more prior lines. Achieves durable remissions in 30-40% of patients.
Show evidence (1 reference)
PMID:33002134 SUPPORT Human Clinical
"Patients treated with CAR T cell vs alternate therapies demonstrated a CR rate of 52% vs 22% (P < .001)"
Real-world comparison demonstrating CAR-T therapy achieves superior complete response rates compared to alternate therapies in relapsed/refractory DLBCL.
Autologous Stem Cell Transplantation
Action: hematopoietic stem cell transplantation MAXO:0000747
For chemotherapy-sensitive relapsed disease, high-dose therapy with ASCT remains standard. CAR-T cells are alternative for transplant-eligible and -ineligible patients with relapsed disease.
Radiation Therapy
Action: radiation therapy MAXO:0000014
Consolidative radiation for localized (stage I-II) disease after abbreviated chemotherapy improves local control. Involved-site radiation therapy (ISRT) is standard approach.
🔬

Biochemical Markers

2
Tissue Biopsy and Immunohistochemistry
FISH for Translocations
{ }

Source YAML

click to show
name: Diffuse Large B-Cell Lymphoma
creation_date: '2026-01-26T02:55:13Z'
updated_date: '2026-03-13T12:00:00Z'
description: >-
  Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma,
  representing 30-40% of cases. It is characterized by diffuse proliferation of large
  B-lymphoid cells and is clinically aggressive but potentially curable with
  immunochemotherapy. Gene expression profiling identifies two major molecular subtypes:
  germinal center B-cell (GCB) type with better prognosis and activated B-cell (ABC)
  type with inferior outcomes. MYC, BCL2, and BCL6 rearrangements define high-grade
  "double-hit" or "triple-hit" lymphomas with aggressive behavior. R-CHOP
  (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) remains standard
  frontline therapy, with novel approaches for relapsed disease.
categories:
- Hematologic Malignancy
- B-cell Neoplasm
- Non-Hodgkin Lymphoma
- Aggressive Lymphoma
parents:
- B-cell non-Hodgkin lymphoma
epidemiology:
- name: Most common non-Hodgkin lymphoma
  description: Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma.
  evidence:
  - reference: PMID:40753559
    reference_title: "[Prognostic factors in elderly patients with diffuse large B-cell lymphoma and their treatment results.]."
    supports: SUPPORT
    snippet: "Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma (NHL)."
    explanation: This abstract explicitly identifies DLBCL as the most common type of NHL.
has_subtypes:
- name: Germinal Center B-cell (GCB) Type
  description: >-
    DLBCL with gene expression profile resembling normal germinal center B cells.
    Characterized by expression of GCB markers (CD10, BCL6, GCET1). Often harbors
    BCL2 translocation and EZH2 mutations. Better prognosis than ABC type with
    R-CHOP, with approximately 60-70% cure rates.
- name: Activated B-cell (ABC) Type
  description: >-
    DLBCL with gene expression profile resembling activated peripheral B cells.
    Shows constitutive NF-kB activation, often through mutations in CD79A/B, CARD11,
    MYD88, or deletions of A20. Inferior prognosis with standard R-CHOP. May benefit
    from targeted agents inhibiting NF-kB pathway.
- name: High-Grade B-cell Lymphoma with MYC and BCL2 Rearrangements
  description: >-
    Double-hit lymphoma (DHL) with concurrent MYC and BCL2 translocations, or
    triple-hit with MYC, BCL2, and BCL6 rearrangements. Highly aggressive with
    poor outcomes to standard R-CHOP. Requires intensified therapy.
pathophysiology:
- name: Germinal Center B-cell Origin
  description: >-
    DLBCL arises from germinal center or post-germinal center B cells undergoing
    somatic hypermutation and class switch recombination. These processes introduce
    DNA double-strand breaks that can lead to oncogenic translocations. The cell
    of origin determines molecular subtype and clinical behavior.
  cell_types:
  - preferred_term: centrocyte
    term:
      id: CL:0009111
      label: centrocyte
  - preferred_term: centroblast
    term:
      id: CL:0009112
      label: centroblast
  locations:
  - preferred_term: lymph node
    term:
      id: UBERON:0000029
      label: lymph node
  downstream:
  - target: BCL2 Overexpression and Apoptosis Resistance
    description: BCL2 translocation blocks germinal center apoptosis
  - target: MYC-Driven Proliferation
    description: MYC rearrangement drives uncontrolled proliferation
- name: BCL2 Overexpression and Apoptosis Resistance
  description: >-
    BCL2 translocation t(14;18) occurs in approximately 30% of GCB-DLBCL, placing
    BCL2 under immunoglobulin enhancer control. Resulting BCL2 overexpression
    blocks the mitochondrial apoptosis pathway, allowing survival of cells that
    would normally die in the germinal center.
  biological_processes:
  - preferred_term: apoptotic process
    modifier: DECREASED
    term:
      id: GO:0006915
      label: apoptotic process
  downstream:
  - target: Lymphoma Cell Accumulation
    description: Apoptosis resistance enables lymphoma expansion
- name: MYC-Driven Proliferation
  description: >-
    MYC rearrangements occur in 10-15% of DLBCL, most commonly with IGH but also
    with non-immunoglobulin partners. MYC overexpression drives cellular proliferation
    and metabolism. When combined with BCL2 rearrangement (double-hit lymphoma),
    creates highly aggressive disease.
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  downstream:
  - target: Lymphoma Cell Accumulation
    description: MYC drives rapid proliferation of lymphoma cells
- name: NF-kB Constitutive Activation
  description: >-
    ABC-DLBCL shows constitutive NF-kB activation through various mechanisms
    including BCR signaling mutations (CD79A/B), CARD11 mutations, MYD88 L265P
    mutation, or A20 deletion. NF-kB promotes survival and contributes to the
    aggressive behavior of ABC subtype.
  cell_types:
  - preferred_term: B cell
    term:
      id: CL:0000236
      label: B cell
  biological_processes:
  - preferred_term: signal transduction
    modifier: INCREASED
    term:
      id: GO:0007165
      label: signal transduction
  downstream:
  - target: Lymphoma Cell Accumulation
    description: NF-kB signaling promotes lymphoma survival
- name: Lymphoma Cell Accumulation
  description: >-
    The combination of blocked apoptosis, enhanced proliferation, and constitutive
    survival signaling leads to aggressive expansion of large B-cell lymphoma
    involving lymph nodes and extranodal sites.
  locations:
  - preferred_term: lymph node
    term:
      id: UBERON:0000029
      label: lymph node
  cell_types:
  - preferred_term: B cell
    term:
      id: CL:0000236
      label: B cell
histopathology:
- name: Diffuse Large B-Cell Lymphoma
  finding_term:
    preferred_term: Diffuse Large B-Cell Lymphoma
    term:
      id: NCIT:C8851
      label: Diffuse Large B-Cell Lymphoma
  frequency: VERY_FREQUENT
  description: Diffuse large B-cell lymphoma is the most common pathologic subtype.
  evidence:
  - reference: PMID:16613685
    reference_title: "[Clinical features of 89 patients with primary non-Hodgkin's lymphoma of the tonsil]."
    supports: SUPPORT
    snippet: "Diffuse large B-cell lymphoma is the most common pathologic subtype."
    explanation: Abstract notes DLBCL as the most common pathologic subtype.

phenotypes:
- category: Lymphatic
  name: Lymphadenopathy
  frequency: VERY_FREQUENT
  description: >-
    Rapidly enlarging lymphadenopathy is the most common presentation.
    Nodal disease may be localized or widespread.
  phenotype_term:
    preferred_term: Lymphadenopathy
    term:
      id: HP:0002716
      label: Lymphadenopathy
  evidence:
  - reference: PMID:29167021
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients most often present with a rapidly growing tumour mass in single or multiple, nodal or extranodal sites."
    explanation: This comprehensive review confirms that rapidly growing nodal masses (lymphadenopathy) are the most common presentation of DLBCL.
- category: Constitutional
  name: Night Sweats
  frequency: FREQUENT
  description: >-
    B symptoms including drenching night sweats indicate active disease
    and are incorporated into staging.
  phenotype_term:
    preferred_term: Night sweats
    term:
      id: HP:0030166
      label: Night sweats
- category: Constitutional
  name: Weight Loss
  frequency: FREQUENT
  description: >-
    Unintentional weight loss greater than 10% body weight in 6 months
    is a B symptom with prognostic significance.
  phenotype_term:
    preferred_term: Weight loss
    term:
      id: HP:0001824
      label: Weight loss
- category: Constitutional
  name: Fatigue
  frequency: VERY_FREQUENT
  description: >-
    Fatigue from disease burden, cytokine release, and anemia.
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
- category: Abdominal
  name: Splenomegaly
  frequency: OCCASIONAL
  description: >-
    Spleen involvement occurs in some cases, particularly with
    advanced stage disease.
  phenotype_term:
    preferred_term: Splenomegaly
    term:
      id: HP:0001744
      label: Splenomegaly
- category: Hematologic
  name: Anemia
  frequency: FREQUENT
  description: >-
    Anemia may result from bone marrow infiltration, hemolysis,
    or cytokine effects.
  phenotype_term:
    preferred_term: Anemia
    term:
      id: HP:0001903
      label: Anemia
biochemical:
- name: Tissue Biopsy and Immunohistochemistry
  notes: >-
    Diagnosis requires tissue biopsy showing diffuse large B cells. IHC panel
    includes CD20, CD3, CD10, BCL6, MUM1/IRF4, BCL2, MYC, and Ki-67.
    Hans algorithm (CD10, BCL6, MUM1) classifies GCB vs non-GCB subtypes.
- name: FISH for Translocations
  notes: >-
    FISH testing for MYC, BCL2, and BCL6 rearrangements is essential to
    identify high-grade double-hit or triple-hit lymphomas, which require
    intensified treatment approaches.
genetic:
- name: BCL2 Translocation
  association: GCB Subtype Marker
  notes: >-
    The t(14;18)(q32;q21) translocation occurs in 30% of GCB-DLBCL, placing
    BCL2 under IGH enhancer control. When combined with MYC rearrangement,
    defines double-hit lymphoma with aggressive behavior.
- name: MYC Rearrangement
  association: Adverse Prognostic Marker
  notes: >-
    MYC translocations occur in 10-15% of DLBCL. MYC rearrangement with
    BCL2 and/or BCL6 defines high-grade B-cell lymphoma (double/triple hit)
    with poor prognosis requiring intensified therapy.
- name: MYD88 L265P Mutation
  association: ABC Subtype Marker
  notes: >-
    MYD88 L265P is present in 30% of ABC-DLBCL and drives NF-kB activation
    through TLR signaling. Associated with extranodal disease, particularly
    CNS and testicular involvement.
- name: BCL6 Rearrangement
  association: Lymphoma Driver
  notes: >-
    BCL6 translocations occur in 30% of DLBCL and may contribute to
    oncogenesis. BCL6 is a transcriptional repressor essential for germinal
    center function.
treatments:
- name: R-CHOP Immunochemotherapy
  description: >-
    Rituximab (anti-CD20), cyclophosphamide, doxorubicin, vincristine, and
    prednisone is the standard frontline regimen. Six cycles cure approximately
    60% of patients overall, with better outcomes in GCB subtype and localized
    disease.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: MAXO:0000647
      label: chemotherapy
    therapeutic_agent:
    - preferred_term: cyclophosphamide
      term:
        id: CHEBI:4027
        label: cyclophosphamide
    - preferred_term: doxorubicin
      term:
        id: CHEBI:28748
        label: doxorubicin
    - preferred_term: vincristine
      term:
        id: CHEBI:28445
        label: vincristine
    - preferred_term: prednisone
      term:
        id: CHEBI:8382
        label: prednisone
  evidence:
  - reference: PMID:11807147
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The rate of complete response was significantly higher in the group that received CHOP plus rituximab than in the group that received CHOP alone (76 percent vs. 63 percent, P=0.005)"
    explanation: The landmark GELA trial established R-CHOP as the standard of care for DLBCL by demonstrating significantly improved complete response rates.
- name: Polatuzumab Vedotin plus R-CHP
  description: >-
    CD79b-directed antibody-drug conjugate combined with rituximab,
    cyclophosphamide, doxorubicin, and prednisone. Approved as frontline
    therapy providing improved outcomes compared to R-CHOP.
  treatment_term:
    preferred_term: pharmacotherapy
    term:
      id: MAXO:0000058
      label: pharmacotherapy
    therapeutic_agent:
    - preferred_term: polatuzumab vedotin
      term:
        id: NCIT:C104153
        label: Polatuzumab Vedotin
- name: Intensive Chemotherapy for Double-Hit Lymphoma
  description: >-
    High-grade lymphomas with MYC and BCL2 rearrangements require intensified
    regimens such as DA-EPOCH-R or R-CODOX-M/R-IVAC rather than standard R-CHOP.
    Outcomes remain inferior to non-double-hit DLBCL.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: MAXO:0000647
      label: chemotherapy
- name: CAR-T Cell Therapy
  description: >-
    CD19-directed CAR-T cells (axicabtagene ciloleucel, lisocabtagene maraleucel,
    tisagenlecleucel) are approved for relapsed/refractory DLBCL after two or
    more prior lines. Achieves durable remissions in 30-40% of patients.
  treatment_term:
    preferred_term: immunotherapy
    term:
      id: MAXO:0001002
      label: immunotherapy procedure
  evidence:
  - reference: PMID:33002134
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients treated with CAR T cell vs alternate therapies demonstrated a CR rate of 52% vs 22% (P < .001)"
    explanation: Real-world comparison demonstrating CAR-T therapy achieves superior complete response rates compared to alternate therapies in relapsed/refractory DLBCL.
- name: Autologous Stem Cell Transplantation
  description: >-
    For chemotherapy-sensitive relapsed disease, high-dose therapy with ASCT
    remains standard. CAR-T cells are alternative for transplant-eligible and
    -ineligible patients with relapsed disease.
  treatment_term:
    preferred_term: hematopoietic stem cell transplantation
    term:
      id: MAXO:0000747
      label: hematopoietic stem cell transplantation
- name: Radiation Therapy
  description: >-
    Consolidative radiation for localized (stage I-II) disease after
    abbreviated chemotherapy improves local control. Involved-site
    radiation therapy (ISRT) is standard approach.
  treatment_term:
    preferred_term: radiation therapy
    term:
      id: MAXO:0000014
      label: radiation therapy
disease_term:
  preferred_term: diffuse large B-cell lymphoma
  term:
    id: MONDO:0018905
    label: diffuse large B-cell lymphoma

classifications:
  icdo_morphology:
    classification_value: Lymphoma
  harrisons_chapter:
  - classification_value: cancer
  - classification_value: hematologic malignancy