Compendium of Cancer Genome Aberrations

Haematolymphoid Tumours 5th ed. (HAEM5) Table of Contents

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Myeloid proliferations and neoplasms

Myeloid precursor lesions
 Clonal Haematopoiesis
   - HAEM5:Clonal haematopoiesis
   - HAEM5:Clonal cytopenias of undetermined significance

Myeloproliferative neoplasms
 Myeloproliferative neoplasms
   - HAEM5:Chronic myeloid leukaemia
   - HAEM5:Chronic neutrophilic leukaemia
   - HAEM5:Chronic eosinophilic leukaemia
   - HAEM5:Polycythaemia vera
   - HAEM5:Essential thrombocythaemia
   - HAEM5:Primary myelofibrosis
   - HAEM5:Juvenile myelomonocytic leukaemia
   - HAEM5:Myeloproliferative neoplasm, NOS

Mastocytosis
   - HAEM5:Cutaneous mastocytosis
   - HAEM5:Systemic mastocytosis
   - HAEM5:Mast cell sarcoma

Myelodysplastic neoplasms
 Myelodysplastic neoplasms, with defining genetic abnormalities
   - HAEM5:Myelodysplastic neoplasm with low blasts and 5q deletion
   - HAEM5:Myelodysplastic neoplasm with low blasts and SF3B1 mutation
   - HAEM5:Myelodysplastic neoplasm with biallelic TP53 inactivation
 Myelodysplastic neoplasms, morphologically defined
   - HAEM5:Myelodysplastic neoplasm with low blasts
   - HAEM5:Myelodysplastic neoplasm, hypoplastic
   - HAEM5:Myelodysplastic neoplasm with increased blasts
 Myelodysplastic neoplasms of childhood
   - HAEM5:Childhood myelodysplastic neoplasm with low blasts
   - HAEM5:Childhood myelodysplastic neoplasm with increased blasts

Myelodysplastic/myeloproliferative neoplasms
   - HAEM5:Chronic myelomonocytic leukaemia
   - HAEM5:Myelodysplastic/myeloproliferative neoplasm with neutrophilia
   - HAEM5:Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis
   - HAEM5:Myelodysplastic/myeloproliferative neoplasm, NOS

Acute myeloid leukaemia
 Acute myeloid leukaemia with defining genetic abnormalities
   - HAEM5:Acute promyelocytic leukaemia with PML::RARA fusion
   - HAEM5:Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion
   - HAEM5:Acute myeloid leukaemia with CBFB::MYH11 fusion
   - HAEM5:Acute myeloid leukaemia with DEK::NUP214 fusion
   - HAEM5:Acute myeloid leukaemia with RBM15::MRTFA fusion
   - HAEM5:Acute myeloid leukaemia with BCR::ABL1 fusion
   - HAEM5:Acute myeloid leukaemia with KMT2A rearrangement
   - HAEM5:Acute myeloid leukaemia with MECOM rearrangement
   - HAEM5:Acute myeloid leukaemia with NUP98 rearrangement
   - HAEM5:Acute myeloid leukaemia with NPM1 mutation
   - HAEM5:Acute myeloid leukaemia with CEBPA mutation
   - HAEM5:Acute myeloid leukaemia, myelodysplasia-related
   - HAEM5:Acute myeloid leukaemia with other defined genetic alterations
 Acute myeloid leukaemia, defined by differentiation
   - HAEM5:Acute myeloid leukaemia with minimal differentiation
   - HAEM5:Acute myeloid leukaemia without maturation
   - HAEM5:Acute myeloid leukaemia with maturation
   - HAEM5:Acute basophilic leukaemia
   - HAEM5:Acute myelomonocytic leukaemia
   - HAEM5:Acute monocytic leukaemia
   - HAEM5:Acute erythroid leukaemia
   - HAEM5:Acute megakaryoblastic leukaemia
 Myeloid sarcoma
   - HAEM5:Myeloid sarcoma

Myeloid neoplasms, secondary
 Myeloid neoplasms and proliferations associated with antecedent or predisposing conditions
   - HAEM5:Myeloid neoplasm post cytotoxic therapy
   - HAEM5:Myeloid neoplasms associated with germline predisposition
   - HAEM5:Myeloid proliferations associated with Down syndrome

Myeloid/lymphoid neoplasms
 Myeloid/lymphoid neoplasms with eosinophilia and defining gene rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with PDGFRA rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with PDGFRB rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with FGFR1 rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with JAK2 rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with FLT3 rearrangement
   - HAEM5:Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion
   - HAEM5:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes

Acute leukaemias of mixed or ambiguous lineage
 Acute leukaemia of ambiguous lineage with defining genetic abnormalities
   - HAEM5:Mixed-phenotype acute leukaemia with BCR::ABL1 fusion
   - HAEM5:Mixed-phenotype acute leukaemia with KMT2A rearrangement
   - HAEM5:Acute leukaemia of ambiguous lineage with other defined genetic alterations 
 Acute leukaemia of ambiguous lineage, immunophenotypically defined
   - HAEM5:Mixed-phenotype acute leukaemia, B/myeloid
   - HAEM5:Mixed-phenotype acute leukaemia, T/myeloid
   - HAEM5:Mixed-phenotype acute leukaemia, rare types
   - HAEM5:Acute leukaemia of ambiguous lineage, NOS
   - HAEM5:Acute undifferentiated leukaemia

Histiocytic/Dendritic cell neoplasms

Plasmacytoid dendritic cell neoplasms
 Plasmacytoid dendritic cell neoplasms
   - HAEM5:Mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm
   - HAEM5:Blastic plasmacytoid dendritic cell neoplasm

Langerhans cell and other dendritic cell neoplasms
 Langerhans cells neoplasms
   - HAEM5:Langerhans cell histiocytosis
   - HAEM5:Langerhans cell sarcoma
 Other dendritic cell neoplasms
   - HAEM5:Indeterminate dendritic cell tumour
   - HAEM5:Interdigitating dendritic cell sarcoma

Histiocyte/macrophage neoplasms
 Histiocytic neoplasms
   - HAEM5:Juvenile xanthogranuloma
   - HAEM5:Erdheim-Chester disease
   - HAEM5:Rosai-Dorfman Disease
   - HAEM5:ALK-positive histiocytosis
   - HAEM5:Histiocytic sarcoma

B-cell lymphoid proliferations and lymphomas

Tumour like lesions with B-cell predominance
   - HAEM5:Reactive B-cell rich lymphoid proliferations that can mimic lymphoma
   - HAEM5:IgG4-related disease
   - HAEM5:Unicentric Castleman disease
   - HAEM5:Idiopathic multicentric Castleman disease
   - HAEM5:KSHV/HHV8-associated multicentric Castleman disease

Precursor B-cell neoplasms
 B-lymphoblastic leukaemias/lymphomas
   - HAEM5:B-lymphoblastic leukaemia/lymphoma
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with high hyperdiploidy
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with iAMP21
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1 fusion
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1-like features
   - HAEM5:B lymphoblastic leukaemia/lymphoma with KMT2A rearrangement
   - HAEM5:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with ETV6::RUNX1-like features
   - HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion
   - HAEM5:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion 
   - HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::HLF fusion
   - HAEM5:B-lymphoblastic leukaemia/lymphoma with other defined genetic alterations
   - HAEM5:B-lymphoblastic leukaemia/lymphoma, NOS

Mature B-cell neoplasms
 Pre-neoplastic and neoplastic small lymphocytic proliferations 
   - HAEM5:Monoclonal B-cell lymphocytosis
   - HAEM5:Chronic lymphocytic leukaemia/small lymphocytic lymphoma
 Splenic B-cell lymphomas and leukaemias
   - HAEM5:Hairy cell leukaemia
   - HAEM5:Splenic marginal zone lymphoma
   - HAEM5:Splenic diffuse red pulp small B-cell lymphoma
   - HAEM5:Splenic B-cell lymphoma/leukaemia with prominent nucleoli
 Lymphoplasmacytic lymphoma
   - HAEM5:Lymphoplasmacytic lymphoma
 Marginal zone lymphoma
   - HAEM5:Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
   - HAEM5:Primary cutaneous marginal zone lymphoma 
   - HAEM5:Nodal marginal zone lymphoma
   - HAEM5:Paediatric nodal marginal zone lymphoma
 Follicular lymphoma
   - HAEM5:In situ follicular B-cell neoplasm
   - HAEM5:Follicular lymphoma
   - HAEM5:Paediatric-type follicular lymphoma
   - HAEM5:Duodenal-type follicular lymphoma
 Cutaneous follicle centre lymphoma
   - HAEM5:Primary cutaneous follicle centre lymphoma
 Mantle cell lymphoma
   - HAEM5:In situ mantle cell neoplasm
   - HAEM5:Mantle cell lymphoma
   - HAEM5:Leukaemic non-nodal mantle cell lymphoma
 Transformations of indolent B-cell lymphomas
   - HAEM5:Transformations of indolent B-cell lymphomas
 Large B-cell lymphomas
   - HAEM5:Diffuse large B-cell lymphoma, NOS
   - HAEM5:T-cell/histiocyte-rich large B-cell lymphoma
   - HAEM5:Diffuse large B-cell lymphoma / high grade B-cell lymphoma with MYC and BCL2 rearrangements
   - HAEM5:ALK-positive large B-cell lymphoma
   - HAEM5:Large B-cell lymphoma with IRF4 rearrangement
   - HAEM5:High grade B-cell lymphoma with 11q aberrations
   - HAEM5:Lymphomatoid granulomatosis
   - HAEM5:EBV-positive diffuse large B-cell lymphoma
   - HAEM5:Diffuse large B-cell lymphoma associated with chronic inflammation
   - HAEM5:Fibrin-associated large B-cell lymphoma
   - HAEM5:Fluid overload-associated large B-cell lymphoma
   - HAEM5:Plasmablastic lymphoma
   - HAEM5:Primary large B-cell lymphoma of immune-privileged sites
   - HAEM5:Primary cutaneous diffuse large B-cell lymphoma, leg type
   - HAEM5:Intravascular large B-cell lymphoma
   - HAEM5:Primary mediastinal large B-cell lymphoma
   - HAEM5:Mediastinal grey zone lymphoma
   - HAEM5:High-grade B-cell lymphoma, NOS
 Burkitt lymphoma
   - HAEM5:Burkitt lymphoma
 KSHV/HHV8-associated B-cell lymphoid proliferations and lymphomas
   - HAEM5:Primary effusion lymphoma
   - HAEM5:KSHV/HHV8-positive diffuse large B-cell lymphoma
   - HAEM5:KSHV/HHV8-positive germinotropic lymphoproliferative disorder
 Lymphoid proliferations and lymphomas associated with immune deficiency and dysregulation
   - HAEM5:Hyperplasias arising in immune deficiency/dysregulation
   - HAEM5:Polymorphic lymphoproliferative disorders arising in immune deficiency / dysregulation 
   - HAEM5:EBV-positive mucocutaneous ulcer
   - HAEM5:Lymphomas arising in immune deficiency / dysregulation 
   - HAEM5:Inborn error of immunity-associated lymphoid proliferations and lymphomas

Hodgkin lymphoma
   - HAEM5:Classic Hodgkin lymphoma 
   - HAEM5:Nodular lymphocyte predominant Hodgkin lymphoma

Plasma cell neoplasms and other diseases with paraproteins
 Monoclonal gammopathies
   - HAEM5:Cold agglutinin disease 
   - HAEM5:IgM monoclonal gammopathy of undetermined significance
   - HAEM5:Non-IgM monoclonal gammopathy of undetermined significance
   - HAEM5:Monoclonal gammopathy of renal significance
 Diseases with monoclonal immunoglobulin deposition
   - HAEM5:Immunoglobulin-related (AL) amyloidosis
   - HAEM5:Monoclonal immunoglobulin deposition disease
 Heavy chain diseases
   - HAEM5:Mu heavy chain disease
   - HAEM5:Gamma heavy chain disease
   - HAEM5:Alpha heavy chain disease
 Plasma cell neoplasms
   - HAEM5:Plasmacytoma
   - HAEM5:Plasma cell myeloma / multiple myeloma
   - HAEM5:Plasma cell neoplasms with associated paraneoplastic syndrome

T-cell and NK-cell lymphoid proliferations and lymphomas

Tumour-like lesions with T-cell predominance
   - HAEM5:Kikuchi-Fujimoto disease
   - HAEM5:Autoimmune lymphoproliferative syndrome
   - HAEM5:Indolent T-lymphoblastic proliferation

Precursor T-cell neoplasms
 T-lymphoblastic leukaemia / lymphoma
   - HAEM5:T-lymphoblastic leukaemia / lymphoma, NOS
   - HAEM5:Early T-precursor lymphoblastic leukaemia / lymphoma 

Mature T-cell and NK-cell neoplasms
 Mature T-cell and NK-cell leukaemias
   - HAEM5:T-prolymphocytic leukaemia
   - HAEM5:T-large granular lymphocytic leukaemia
   - HAEM5:NK-large granular lymphocytic leukaemia
   - HAEM5:Adult T-cell leukaemia/lymphoma
   - HAEM5:Sezary syndrome
   - HAEM5:Aggressive NK-cell leukaemia
 Primary cutaneous T-cell lymphoid proliferations and lymphomas
   - HAEM5:Primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder
   - HAEM5:Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder
   - HAEM5:Mycosis fungoides
   - HAEM5:Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Lymphomatoid papulosis
   - HAEM5:Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma
   - HAEM5:Subcutaneous panniculitis-like T-cell lymphoma
   - HAEM5:Primary cutaneous gamma/delta T-cell lymphoma
   - HAEM5:Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma
   - HAEM5:Primary cutaneous peripheral T-cell lymphoma, NOS
 Intestinal T-cell and NK-cell lymphoid proliferations and lymphomas
   - HAEM5:Indolent T-cell lymphoma of the gastrointestinal tract
   - HAEM5:Indolent NK-cell lymphoproliferative disorder of the gastrointestinal tract
   - HAEM5:Enteropathy-associated T-cell lymphoma
   - HAEM5:Monomorphic epitheliotropic intestinal T-cell lymphoma
   - HAEM5:Intestinal T-cell lymphoma, NOS
 Hepatosplenic T-cell lymphoma
   - HAEM5:Hepatosplenic T-cell lymphoma
 Anaplastic large cell lymphoma
   - HAEM5:ALK-positive anaplastic large cell lymphoma
   - HAEM5:ALK-negative anaplastic large cell lymphoma
   - HAEM5:Breast implant-associated anaplastic large cell lymphoma
 Nodal T-follicular helper (TFH) cell lymphoma
   - HAEM5:Nodal TFH cell lymphoma, angioimmunoblastic-type
   - HAEM5:Nodal TFH cell lymphoma, follicular-type
   - HAEM5:Nodal TFH cell lymphoma, NOS
 Other peripheral T-cell lymphomas
   - HAEM5:Peripheral T-cell lymphoma, NOS
 EBV-positive NK-cell and T-cell lymphomas
   - HAEM5:EBV-positive nodal T- and NK-cell lymphoma
   - HAEM5:Extranodal NK/T-cell lymphoma
 EBV-positive T-cell and NK-cell lymphoid proliferations and lymphomas of childhood
   - HAEM5:Severe mosquito bite allergy
   - HAEM5:Hydroa vacciniforme lymphoproliferative disorder
   - HAEM5:Systemic chronic active EBV disease
   - HAEM5:Systemic EBV-positive T-cell lymphoma of childhood

Stroma-derived neoplasms of lymphoid tissues

Mesenchymal dendritic cell neoplasms
 Follicular dendritic cell neoplasms
   - HAEM5:Follicular dendritic cell sarcoma
   - HAEM5:EBV-positive inflammatory follicular dendritic cell sarcoma
   - HAEM5:Fibroblastic reticular cell tumour

Myofibroblastic tumours
 Myofibroblastic tumour
   - HAEM5:Intranodal palisaded myofibroblastoma

Spleen-specific vascular-stromal tumours
 Splenic vascular-stromal tumours
   - HAEM5:Littoral cell angioma
   - HAEM5:Splenic hamartoma
   - HAEM5:Sclerosing angiomatoid nodular transformation (SANT) of spleen

Genetic tumour syndromes

   - HAEM5:Fanconi anaemia
   - HAEM5:Bloom syndrome
   - HAEM5:Ataxia-telangiectasia syndrome
   - HAEM5:RASopathies
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