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| |} | | |} |
| <nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours. | | <nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours. |
|
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| ==Definition / Description of Disease==
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| Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
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| ==Synonyms / Terminology==
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| Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
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| ==Epidemiology / Prevalence==
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| Put your text here
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| ==Clinical Features==
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| Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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| {| class="wikitable"
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| |'''Signs and Symptoms'''
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| |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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| <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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| <span class="blue-text">EXAMPLE:</span> Fatigue
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| <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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| |-
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| |'''Laboratory Findings'''
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| |<span class="blue-text">EXAMPLE:</span> Cytopenias
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| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
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| |}
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| ==Sites of Involvement==
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| Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
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| ==Morphologic Features==
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| Put your text here
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| ==Immunophenotype==
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| Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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| {| class="wikitable sortable"
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| |-
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| !Finding!!Marker
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| |-
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| |Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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| |-
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| |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
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| |-
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| |Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
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| |-
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| |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
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| |}
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| ==WHO Essential and Desirable Genetic Diagnostic Criteria==
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| <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
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| {| class="wikitable"
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| |+
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| |WHO Essential Criteria (Genetics)*
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| |-
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| |WHO Desirable Criteria (Genetics)*
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| |-
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| |Other Classification
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| |}
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| <nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
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| ==Related Terminology== | | ==Related Terminology== |
| <span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span> | | <span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span> |
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| |} | | |} |
| {| class="wikitable sortable"
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| |-
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| !Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
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| !Diagnostic Significance (Yes, No or Unknown)
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| !Prognostic Significance (Yes, No or Unknown)
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| !Therapeutic Significance (Yes, No or Unknown)
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| !Notes
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| |-
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| |<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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| <span class="blue-text">EXAMPLE:</span> 30% (add reference)
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| |Yes
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| |No
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| |Yes
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| |<span class="blue-text">EXAMPLE:</span>
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| 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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| |}
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| ==Individual Region Genomic Gain/Loss/LOH== | | ==Individual Region Genomic Gain/Loss/LOH== |
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| |Particularly associated with NUP98::KDM5A | | |Particularly associated with NUP98::KDM5A |
| |}
| |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
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| {| class="wikitable sortable"
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| |-
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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 (Yes, No or Unknown)
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| !Therapeutic Significance (Yes, No or Unknown)
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| !Notes
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| |-
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| |<span class="blue-text">EXAMPLE:</span>
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| 7
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| |<span class="blue-text">EXAMPLE:</span> Loss
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| |<span class="blue-text">EXAMPLE:</span>
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| chr7:1- 159,335,973 [hg38]
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| |<span class="blue-text">EXAMPLE:</span>
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| chr7
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| |Yes
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| |Yes
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| |No
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| |<span class="blue-text">EXAMPLE:</span>
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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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| |-
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| |<span class="blue-text">EXAMPLE:</span>
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| 8
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| |<span class="blue-text">EXAMPLE:</span> Gain
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| |<span class="blue-text">EXAMPLE:</span>
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| chr8:1-145,138,636 [hg38]
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| |<span class="blue-text">EXAMPLE:</span>
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| chr8
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| |No
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| |No
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| |No
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| |<span class="blue-text">EXAMPLE:</span>
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| Common recurrent secondary finding for t(8;21) (add reference).
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| |} | | |} |
| ==Characteristic Chromosomal or Other Global Mutational Patterns== | | ==Characteristic Chromosomal or Other Global Mutational Patterns== |
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| |Particularly associated with NUP98::KDM5A | | |Particularly associated with NUP98::KDM5A |
| |} | | |} |
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| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
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| {| class="wikitable sortable"
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| |-
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| !Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
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| !'''Diagnostic Significance (Yes, No or Unknown)'''
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| !Prognostic Significance (Yes, No or Unknown)
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| !Therapeutic Significance (Yes, No or Unknown)
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| !Notes
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| |-
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| |<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
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| <span class="blue-text">EXAMPLE:</span>
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| EGFR; Exon 20 mutations
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| <span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
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| |<span class="blue-text">EXAMPLE:</span> TSG
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| |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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| <span class="blue-text">EXAMPLE:</span> 30% (add Reference)
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| |<span class="blue-text">EXAMPLE:</span> IDH1 R123H
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| |<span class="blue-text">EXAMPLE:</span> EGFR amplification
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| |<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
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| <br />
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| |}
| |
| 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.
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| ==Epigenomic Alterations== | | ==Epigenomic Alterations== |
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| Rearrangements involving NUP98 are often cryptic on conventional karyotype, owing to terminal location of NUP98 on chromosome 11p15.4. Most patients have a normal karyotype. Diagnosis is established using the following tests: | | Rearrangements involving NUP98 are often cryptic on conventional karyotype, owing to terminal location of NUP98 on chromosome 11p15.4. Most patients have a normal karyotype. Diagnosis is established using the following tests: |
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| * FISH using NUP98 break-apart probes | | *FISH using NUP98 break-apart probes |
| * RT-PCR for fusion proteins like NUP98::NSD1 | | *RT-PCR for fusion proteins like NUP98::NSD1 |
| * RNA sequencing | | *RNA sequencing |
| * Optical Genome Mapping (OGM) | | *Optical Genome Mapping (OGM) |
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| <br /> | | <br /> |
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| [[Category:DISEASE]] | | [[Category:DISEASE]] |
| [[Category:Diseases A]] | | [[Category:Diseases A]] |
| | <references /> |
