Difference between revisions of "Test"

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Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
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[[File:Dic(9 12).tif|300px]]
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*[[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities|AML with Recurrent Genetic Abnormalities]]
 
−
**[[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1|AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]]
 
−
**[[Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11|AML with with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]]
 
−
*[[Acute Myeloid Leukemia (AML) with Myelodysplasia-Related Changes|AML with Myelodysplasia-Related Changes]]
 
−
**sub division
 
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***sub-sub-sub division
 
  
 +
==Myeloproliferative Neoplasms (MPN)==
  
−
== Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms ==
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*[[HAEM5:Chronic myeloid leukaemia]]
−
*[[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities|AML with Recurrent Genetic Abnormalities]]
+
*[[HAEM5:Chronic neutrophilic leukaemia]]
 +
*[[HAEM5:Polycythaemia vera]]
 +
*[[HAEM5:Primary myelofibrosis]]
 +
*[[HAEM5:Chronic eosinophilic leukaemia]]
 +
*[[HAEM5:Myeloproliferative neoplasm, NOS]]
 +
*[[Some new stuff]]
  
−
  - [[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1|AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]]
 
−
  - [[Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11|AML with with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]]
 
−
  - [[Acute Promyelocytic Leukemia (APL) with PML-RARA]]
 
−
  - [[Acute Myeloid Leukemia (AML) with t(9;11)(p21.3;q23.3); KMT2A-MLLT3|AML with t(9;11)(p21.3;q23.3); KMT2A-MLLT3]]
 
−
  - [[Acute Myeloid Leukemia (AML) with t(6;9)(p23;q34.1); DEK-NUP214|AML with t(6;9)(p23;q34.1); DEK-NUP214]]
 
−
  - [[Acute Myeloid Leukemia (AML) with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM|AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM]]
 
−
  - [[Acute Myeloid Leukemia (AML) Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1|AML Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1]]
 
−
  - [[Acute Myeloid Leukemia (AML) with BCR-ABL1|AML with BCR-ABL1]]
 
−
  - [[Acute Myeloid Leukemia (AML) with Mutated NPM1|AML with Mutated NPM1]]
 
−
  - [[Acute Myeloid Leukemia (AML) with Biallelic Mutations of CEBPA|AML with Biallelic Mutations of CEBPA]]
 
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  - [[Acute Myeloid Leukemia (AML) with Mutated RUNX1|AML with Mutated RUNX1]]
 
  
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*[[Acute Myeloid Leukemia (AML) with Myelodysplasia-Related Changes|AML with Myelodysplasia-Related Changes]]
+
'''Primary Author(s)*'''
  
−
*[[Therapy-Related Myeloid Neoplasms]]
+
Put your text here
  
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*[[Acute Myeloid Leukemia (AML), Not Otherwise Specified|AML, Not Otherwise Specified]]
+
'''Cancer Category/Type'''
  
−
  - [[Acute Myeloid Leukemia (AML) with Minimal Differentiation|AML with Minimal Differentiation]]
+
Put your text here 
−
  - [[Acute Myeloid Leukemia (AML) without Maturation|AML without Maturation]]
 
−
  - [[Acute Myeloid Leukemia (AML) with Maturation|AML with Maturation]]
 
−
  - [[Acute Myelomonocytic Leukemia]]
 
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  - [[Acute Monoblastic and Monocytic Leukemia]]
 
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  - [[Pure Erythroid Leukemia]]
 
−
  - [[Acute Megakaryoblastic Leukemia (AMKL)]]
 
−
  - [[Acute Basophilic Leukemia]]
 
−
  - [[Acute Panmyelosis with Myelofibrosis]]
 
  
−
*[[Myeloid Sarcoma]]
 
  
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*[[Myeloid Proliferations Associated with Down Syndrome]]
+
'''Cancer Sub-Classification/Subtype'''
  
−
  - [[Transient Abnormal Myelopoiesis (TAM) Associated with Down Syndrome]]
+
Put your text here
−
  - [[Myeloid Leukemia Associated with Down Syndrome]]
 
  
−
*[[Blastic Plasmacytoid Dendritic Cell Neoplasm]]
 
  
−
*[[Acute Leukemias of Ambiguous Lineage]]
+
'''Definition/Description of Disease'''
  
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  - [[Acute Undifferentiated Leukemia]]
+
Put your text here
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  - [[Mixed Phenotype Acute Leukemia (MPAL) with t(9;22)(q34.1;q11.2); BCR-ABL1]]
 
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  - [[Mixed Phenotype Acute Leukemia (MPAL) with t(v;11q23.3); KMT2A Rearranged]]
 
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  - [[Mixed Phenotype Acute Leukemia (MPAL), B/Myeloid, Not Otherwise Specified]]
 
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  - [[Mixed Phenotype Acute Leukemia (MPAL), T/Myeloid, Not Otherwise Specified]]
 
−
  - [[Mixed-Phenotype Acute Leukemia, Not Otherwise Specified (NOS), Rare Types]]
 
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  - [[Acute Leukemias of Ambiguous Lineage, Not Otherwise Specified (NOS)]]
 
  
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*[[Myeloid Neoplasms with Germline Predisposition]]
 
  
−
  - [[Acute Myeloid Leukaemia with Germline CEBPA Mutation]]
+
'''Synonyms/Terminology'''
−
  - [[Myeloid Neoplasms with Germline DDX41 Mutation]]
 
−
  - [[Myeloid Neoplasms with Germline RUNX1 Mutation]]
 
−
  - [[Myeloid Neoplasms with Germline ANKRD26 Mutation]]
 
−
  - [[Myeloid Neoplasms with Germline ETV6 Mutation]]
 
−
  - [[Myeloid Neoplasms with Germline GATA2 Mutation]]
 
  
−
== Myelodysplastic Syndromes (MDS) ==
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Put your text here
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*[[Myelodysplastic Syndrome (MDS) with Single Lineage Dysplasia|MDS with Single Lineage Dysplasia]]
 
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*[[Myelodysplastic Syndrome with Ring Sideroblasts (MDS-RS)|MDS with Ring Sideroblasts (MDS-RS)]]
 
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*[[Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia|MDS with Ring Sideroblasts and Multilineage Dysplasia]]
 
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*[[Myelodysplastic Syndrome (MDS) with Multilineage Dysplasia|MDS with Multilineage Dysplasia]]
 
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*[[Myelodysplastic Syndrome (MDS) with Excess Blasts|MDS with Excess Blasts]]
 
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*[[Myelodysplastic Syndrome (MDS) with Isolated del(5q)|MSD with Isolated del(5q)]]
 
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*[[Myelodysplastic Syndrome (MDS), Unclassifiable|MDS, Unclassifiable]]
 
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*[[Refractory Cytopenia of Childhood]]
 
  
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== Myeloproliferative Neoplasms (MPN) ==
 
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*[[Chronic Myeloid Leukemia (CML), BCR-ABL1 Positive]]
 
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*[[Chronic Neutrophilic Leukemia (CNL)]]
 
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*[[Polycythemia Vera (PV)]]
 
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*[[Primary Myelofibrosis (PMF)]]
 
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*[[Essential Thrombocythemia (ET)]]
 
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*[[Chronic Eosinophilic Leukemia, Not Otherwise Specified]]
 
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*[[Myeloproliferative Neoplasm (MPN), Unclassifiable]]
 
  
−
== Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN) ==
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'''Epidemiology/Prevalence'''
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*[[Chronic Myelomonocytic Leukemia (CMML)]]
 
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*[[Atypical Chronic Myeloid Leukemia (aCML), BCR-ABL1 Negative]]
 
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*[[Juvenile Myelomonocytic Leukemia (JMML)]]
 
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*[[Myelodysplastic/Myeloproliferative Neoplasms with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)|MDS/MPN with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)]]
 
−
*[[Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN), Unclassifiable|MDS/MPN, Unclassifiable]]
 
  
 +
Put your text here
  
  
 +
'''Clinical Features'''
  
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Put your text here and fill in the table
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<br />
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{| class="wikitable"
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|'''Signs and  Symptoms'''
 +
|EXAMPLE Asymptomatic  (incidental finding on complete blood counts)
  
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== Mature B-Cell Neoplasms ==
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EXAMPLE B-symptoms  (weight loss, fever, night sweats)
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*[[Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma]]
 
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  - [[Monoclonal B-cell Lymphocytosis]]
 
  
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*[[B-cell Prolymphocytic Leukemia]]
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EXAMPLE Fatigue
  
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*[[Splenic Marginal Zone Lymphoma]]
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EXAMPLE Lymphadenopathy  (uncommon)
 +
|-
 +
|'''Laboratory  Findings'''
 +
|EXAMPLE Cytopenias
  
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*[[Hairy Cell Leukemia]]
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EXAMPLE Lymphocytosis  (low level)
 +
|}
  
−
*[[Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
 
−
  - [[Splenic Diffuse Red Pulp Small B-cell Lymphoma]]
 
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  - [[Hairy Cell Leukemia Variant]]
 
  
−
*[[Lymphoplasmacytic Lymphoma]]
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'''Sites of Involvement'''
−
  - [[Waldenstrom Macroglobulinemia]]
 
  
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*[[IgM Monoclonal Gammopathy of Undetermined Significance]]
+
Put your text here
  
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*[[Heavy Chain Diseases]]
 
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  - [[Mu Heavy Chain Disease]]
 
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  - [[Gamma Heavy Chain Disease]]
 
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  - [[Alpha Heavy Chain Disease]]
 
  
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*[[Plasma Cell Neoplasms]]
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'''Morphologic Features'''
−
  - [[Non-IgM Monoclonal Gammopathy of Undetermined Significance]]
 
−
  - [[Plasma Cell Myeloma]]
 
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  - [[Plasma Cell Myeloma Variants]]
 
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  - [[Plasmacytoma]]
 
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  - [[Monoclonal Immunoglobulin Deposition Diseases]]
 
−
        - [[Primary Amyloidosis]]
 
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        - [[Light Chain and Heavy Chain Deposition Disease]]
 
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  - [[Plasma Cell Neoplasms with Associated Paraneoplastic Syndrome]]
 
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        - [[POEMS Syndrome]]
 
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        - [[TEMPI Syndrome]]
 
  
−
*[[Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT Lymphoma)]]
+
Put your text here
  
−
*[[Nodal Marginal Zone Lymphoma]]
 
−
  - [[Paediatric Nodal Marginal Zone Lymphoma]]
 
  
−
*[[Follicular Lymphoma]]
+
'''Immunophenotype'''
−
  - [[Testicular Follicular Lymphoma]]
 
−
  - [[In Situ Follicular Neoplasia]]
 
−
  - [[Duodenal-Type Follicular Lymphoma]]
 
  
−
*[[Paediatric-Type Follicular Lymphoma]]
+
Put your text here and fill in the table
 +
<br />
 +
{| class="wikitable"
 +
|'''Positive  (universal)'''
 +
|EXAMPLE CD1
 +
|-
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|'''Positive  (subset)'''
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|EXAMPLE CD2
 +
|-
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|'''Negative  (universal)'''
 +
|EXAMPLE CD3
 +
|-
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|'''Negative (subset)'''
 +
|EXAMPLE CD4
 +
|}
  
−
*[[Large B-cell Lymphoma with IRF4 Rearrangement]]
 
  
−
*[[Primary Cutaneous Follicle Centre Lymphoma]]
+
'''Chromosomal Rearrangements (Gene Fusions)'''
  
−
*[[Mantle Cell Lymphoma]]
+
Put your text here and fill in the table
−
  - [[Leukemic Non-Nodal Mantle Cell Lymphoma]]
+
<br />
−
  - [[In Situ Mantle Cell Neoplasia]]
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{| class="wikitable"
 +
|'''Chromosomal Rearrangement'''
 +
|'''Genes in Fusion'''
  
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*[[Diffuse Large B-cell Lymphoma, Not Otherwise Specified]]
+
'''(5’ or 3’ Segments)'''
 +
|'''Pathogenic Derivative'''
 +
|'''Prevalence'''
 +
|'''Diagnostic  Significance (Yes, No or Unknown)'''
 +
|'''Prognostic  Significance (Yes, No or Unknown)'''
 +
|'''Therapeutic  Significance (Yes, No or Unknown)'''
 +
|'''Notes'''
 +
|-
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|EXAMPLE  t(9;22)(q34;q11.2)
 +
|EXAMPLE 3'ABL1  / 5'BCR
 +
|EXAMPLE der(22)
 +
|EXAMPLE 20%  (COSMIC)
  
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*[[T-cell/Histiocyte-Rich Large B-cell Lymphoma]]
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EXAMPLE 30%  (add reference)
 +
|Yes
 +
|No
 +
|Yes
 +
|EXAMPLE
  
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*[[Primary Diffuse Large B-cell Lymphoma of the CNS]]
+
The t(9;22) is  diagnostic of CML in the appropriate morphology and clinical context (add  reference). This fusion is responsive to targeted therapy such as Imatinib  (Gleevec) (add reference).
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*[[Primary Cutaneous Diffuse Large B-cell Lymphoma, Leg Type]]
 
  
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*[[EBV-Positive Diffuse Large B-cell Lymphoma, Not Otherwise Specified (NOS)]]
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'''Individual Region Genomic Gain/Loss/LOH'''
  
−
*[[EBV-Positive Mucocutaneous Ulcer]]
+
Put your text here and fill in the table
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<br />
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{| class="wikitable"
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|'''Chr #'''
 +
|'''Gain/Loss/Amp/LOH'''
 +
|'''Minimal Region Genomic Coordinates [Genome  Build]'''
 +
|'''Minimal Region Cytoband'''
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|'''Diagnostic  Significance (Yes, No or Unknown)'''
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|'''Prognostic  Significance'''
  
−
*[[Diffuse Large B-cell Lymphoma Associated with Chronic Inflammation]]
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'''(Yes, No  or Unknown)'''
−
  - [[Fibrin-Associated Diffuse Large B-cell Lymphoma]]
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|'''Therapeutic  Significance'''
  
−
*[[Lymphomatoid Granulomatosis]]
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'''(Yes, No  or Unknown)'''
 +
|'''Notes'''
 +
|-
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|EXAMPLE
  
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*[[Primary Mediastinal (Thymic) Large B-cell Lymphoma]]
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7
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|EXAMPLE Loss
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|EXAMPLE
  
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*[[Intravascular Large B-cell Lymphoma]]
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chr7:1- 159,335,973  [hg38]
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|EXAMPLE
  
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*[[ALK-Positive Large B-cell Lymphoma]]
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chr7
 +
|Yes
 +
|Yes
 +
|No
 +
|EXAMPLE
  
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*[[Plasmablastic Lymphoma]]
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Presence of  monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with  MDS-related changes when there is ≥20% blasts and no prior therapy (add  reference).  Monosomy 7/7q deletion is  associated with a poor prognosis in AML (add reference).
 +
|-
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|EXAMPLE
  
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*[[Primary Effusion Lymphoma]]
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8
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|EXAMPLE Gain
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|EXAMPLE
  
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*[[HHV8-Associated Lymphoproliferative Disorders]]
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chr8:1-145,138,636  [hg38]
−
  - [[Multicentric Castleman Disease]]
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|EXAMPLE
−
  - [[HHV8-Positive Diffuse Large B-cell Lymphoma, Not Otherwise Specified (NOS)]]
 
−
  - [[HHV8-Positive Germinotropic Lymphoproliferative Disorder]]
 
  
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*[[Burkitt Lymphoma]]
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chr8
 +
|No
 +
|No
 +
|No
 +
|EXAMPLE
  
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*[[Burkitt-Like Lymphoma with 11q Aberration]]
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Common recurrent  secondary finding for t(8;21) (add reference).
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*[[High-Grade B-cell Lymphoma]]
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'''Characteristic Chromosomal Patterns'''
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  - [[High-Grade B-cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements]]
 
−
  - [[High-Grade B-cell Lymphoma, Not Otherwise Specified (NOS)]]
 
  
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*[[B-cell Lymphoma, Unclassifiable, with Features Intermediate Between Diffuse Large B-cell Lymphoma and Classic Hodgkin Lymphoma]]
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Put your text here
  
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{| class="wikitable"
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|'''Chromosomal  Pattern'''
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|'''Diagnostic  Significance (Yes, No or Unknown)'''
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|'''Prognostic  Significance'''
  
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'''(Yes, No  or Unknown)'''
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|'''Therapeutic  Significance'''
  
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== Mature T- and NK-cell Neoplasms ==
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'''(Yes, No  or Unknown)'''
−
*[[T-cell Prolymphocytic Leukemia]]
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|'''Notes'''
 +
|-
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|EXAMPLE
  
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*[[T-cell Large Granular Lymphocytic Leukemia]]
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Co-deletion of  1p and 18q
 +
|Yes
 +
|No
 +
|No
 +
|EXAMPLE:
  
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*[[Chronic Lymphoproliferative Disorder of NK Cells]]
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See  chromosomal rearrangements table as this pattern is due to an unbalanced  derivative translocation associated with oligodendroglioma (add reference).
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*[[Aggressive NK-cell Leukemia]]
 
  
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*[[EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of Childhood]]
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'''Gene Mutations (SNV/INDEL)'''
−
  - [[Systemic EBV-Positive T-cell Lymphoma of Childhood]]
 
−
  - [[Chronic Active EBV Infection of T- and NK-cell Type, Systemic Form]]
 
−
  - [[Hydroa Vacciniforme-Like Lymphoproliferative Disorder]]
 
−
  - [[Severe Mosquito Bite Allergy]]
 
  
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*[[Adult T-cell Leukemia/Lymphoma]]
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Put your text here and fill in the table
 +
{| class="wikitable"
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|'''Gene; Genetic  Alteration'''
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|'''Presumed  Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other)'''
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|'''Prevalence  (COSMIC/ TCGA/Other)'''
 +
|'''Concomitant  Mutations'''
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|'''Mutually  Exclusive Mutations'''
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|'''Diagnostic Significance (Yes, No or  Unknown)'''
 +
|'''Prognostic Significance'''
  
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*[[Extranodal NK/T-cell Lymphoma, Nasal Type]]
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'''(Yes, No or Unknown)'''
 +
|'''Therapeutic Significance'''
  
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*[[Intestinal T-cell Lymphoma]]
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'''(Yes, No or Unknown)'''
−
  - [[Enteropathy-Associated T-cell Lymphoma]]
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|'''Notes'''
−
  - [[Monomorphic Epitheliotropic Intestinal T-cell Lymphoma]]
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|-
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  - [[Intestinal T-cell Lymphoma, Not Otherwise Specified (NOS)]]
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|EXAMPLE: TP53; Variable LOF mutations
−
  - [[Indolent T-cell Lymphoproliferative Disorder of the Gastrointestinal Tract]]
 
  
−
*[[Hepatosplenic T-cell Lymphoma]]
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EXAMPLE:
  
−
*[[Subcutaneous Panniculitis-Like T-cell Lymphoma]]
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EGFR; Exon 20 mutations
  
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*[[Mycosis Fungoides]]
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EXAMPLE: BRAF; Activating mutations
 +
|EXAMPLE: TSG
 +
|EXAMPLE: 20% (COSMIC)
  
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*[[Sézary Syndrome]]
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EXAMPLE: 30% (add Reference)
 +
|EXAMPLE: IDH1 R123H
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|EXAMPLE: EGFR amplification
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add  reference).
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Note: A more extensive list of mutations can be found in cBioportal (<nowiki>https://www.cbioportal.org/</nowiki>), COSMIC (<nowiki>https://cancer.sanger.ac.uk/cosmic</nowiki>), ICGC (<nowiki>https://dcc.icgc.org/</nowiki>) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
  
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*[[Primary Cutaneous CD30 Positive T-cell Lymphoproliferative Disorders]]
 
−
  - [[Lymphomatoid Papulosis]]
 
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  - [[Primary Cutaneous Anaplastic Large Cell Lymphoma]]
 
  
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*[[Primary Cutaneous Peripheral T-cell Lymphomas, Rare Subtypes]]
+
'''Epigenomic Alterations'''
−
  - [[Primary Cutaneous Gamma Delta T-cell Lymphoma]]
 
−
  - [[Primary Cutaneous CD8+ Aggressive Epidermotropic Cytotoxic T-cell Lymphoma]]
 
−
  - [[Primary Cutaneous Acral CD8+ T-cell Lymphoma]]
 
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  - [[Primary Cutaneous CD4+ Small/Medium T-cell Lymphoproliferative Disorder]]
 
  
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*[[Peripheral T-cell Lymphoma, Not Otherwise Specified (NOS)]]
+
Put your text here
  
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*[[Angioimmunoblastic T-cell Lymphoma and Other Nodal Lymphomas of T Follicular Helper Cell Origin]]
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'''Genes and Main Pathways Involved'''
−
  - [[Angioimmunoblastic T-cell Lymphoma]]
 
−
  - [[Follicular T-cell Lymphoma]]
 
−
  - [[Nodal Peripheral T-cell Lymphoma with T Follicular Helper Phenotype]]
 
  
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*[[Anaplastic Large Cell Lymphoma, ALK-Positive]]
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Put your text here and fill in the table
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{| class="wikitable"
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|'''Gene;  Genetic Alteration'''
 +
|'''Pathway'''
 +
|'''Pathophysiologic  Outcome'''
 +
|-
 +
|EXAMPLE: BRAF and MAP2K1; Activating  mutations
  
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*[[Anaplastic Large Cell Lymphoma, ALK-Negative]]
+
EXAMPLE: CDKN2A; Inactivating  mutations
  
−
*[[Breast Implant-Associated Anaplastic Large Cell Lymphoma]]
+
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
 +
|EXAMPLE: MAPK signaling
  
 +
EXAMPLE: Cell cycle  regulation
  
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<comments />
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EXAMPLE:  Histone modification, chromatin remodeling
 +
|EXAMPLE: Increased cell  growth and proliferation
 +
 
 +
EXAMPLE: Unregulated cell  division
 +
 
 +
EXAMPLE:  Abnormal gene expression program
 +
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'''Genetic Diagnostic Testing Methods'''
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'''Familial Forms'''
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'''Additional Information'''
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'''Links'''
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Put your text placeholder here (use "Link" icon at top of page)
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'''References'''
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(use "Cite" icon at top of page)
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BOOK EXAMPLE:  Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p130-149.
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'''Notes'''
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<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

Latest revision as of 03:19, 31 May 2024

Dic(9 12).tif

Myeloproliferative Neoplasms (MPN)


Primary Author(s)*

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Cancer Category/Type

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Cancer Sub-Classification/Subtype

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Definition/Description of Disease

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Synonyms/Terminology

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Epidemiology/Prevalence

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Clinical Features

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Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


Sites of Involvement

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Morphologic Features

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Immunophenotype

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Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4


Chromosomal Rearrangements (Gene Fusions)

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Chromosomal Rearrangement Genes in Fusion

(5’ or 3’ Segments)

Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


Individual Region Genomic Gain/Loss/LOH

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Chr # Gain/Loss/Amp/LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance

(Yes, No or Unknown)

Therapeutic Significance

(Yes, No or Unknown)

Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No EXAMPLE

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

Characteristic Chromosomal Patterns

Put your text here

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance

(Yes, No or Unknown)

Therapeutic Significance

(Yes, No or Unknown)

Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).


Gene Mutations (SNV/INDEL)

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Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other) Prevalence (COSMIC/ TCGA/Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance

(Yes, No or Unknown)

Therapeutic Significance

(Yes, No or Unknown)

Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


Epigenomic Alterations

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Genes and Main Pathways Involved

Put your text here and fill in the table

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations

EXAMPLE: CDKN2A; Inactivating mutations

EXAMPLE:  KMT2C and ARID1A; Inactivating mutations

EXAMPLE: MAPK signaling

EXAMPLE: Cell cycle regulation

EXAMPLE:  Histone modification, chromatin remodeling

EXAMPLE: Increased cell growth and proliferation

EXAMPLE: Unregulated cell division

EXAMPLE:  Abnormal gene expression program


Genetic Diagnostic Testing Methods

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Familial Forms

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Additional Information

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Links

Put your text placeholder here (use "Link" icon at top of page)


References

(use "Cite" icon at top of page)


BOOK EXAMPLE:  Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p130-149.

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

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