Disease-Specific Template with Instructions: Difference between revisions
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|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
|EXAMPLE Asymptomatic (incidental finding on complete blood counts) | |EXAMPLE: Asymptomatic (incidental finding on complete blood counts) | ||
EXAMPLE B-symptoms (weight loss, fever, night sweats) | EXAMPLE: B-symptoms (weight loss, fever, night sweats) | ||
EXAMPLE Fatigue | EXAMPLE: Fatigue | ||
EXAMPLE Lymphadenopathy (uncommon) | EXAMPLE: Lymphadenopathy (uncommon) | ||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
|EXAMPLE Cytopenias | |EXAMPLE: Cytopenias | ||
EXAMPLE Lymphocytosis (low level) | EXAMPLE: Lymphocytosis (low level) | ||
|} | |} | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)||EXAMPLE CD1 | |Positive (universal)||EXAMPLE: CD1 | ||
|- | |- | ||
|Positive (subset)|| | |Positive (subset)|| | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | |EXAMPLE: t(9;22)(q34;q11.2)||EXAMPLE: 3'ABL1 / 5'BCR||EXAMPLE: der(22)||EXAMPLE: 20% (COSMIC) | ||
EXAMPLE 30% (add reference) | EXAMPLE: 30% (add reference) | ||
|Yes | |EXAMPLE: Yes | ||
|No | |EXAMPLE: No | ||
|Yes | |EXAMPLE: Yes | ||
|EXAMPLE | |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). | 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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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE | |EXAMPLE: | ||
7 | 7 | ||
|EXAMPLE Loss | |EXAMPLE: Loss | ||
|EXAMPLE | |EXAMPLE: | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
|EXAMPLE | |EXAMPLE: | ||
chr7 | chr7 | ||
|Yes | |EXAMPLE: Yes | ||
|Yes | |EXAMPLE: Yes | ||
|No | |EXAMPLE: No | ||
|EXAMPLE | |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). | 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 | |EXAMPLE: | ||
8 | 8 | ||
|EXAMPLE Gain | |EXAMPLE: Gain | ||
|EXAMPLE | |EXAMPLE: | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
|EXAMPLE | |EXAMPLE: | ||
chr8 | chr8 | ||
|No | |EXAMPLE: No | ||
|No | |EXAMPLE: No | ||
|No | |EXAMPLE: No | ||
|EXAMPLE | |EXAMPLE: | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
|} | |} | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE | |EXAMPLE: | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
|Yes | |EXAMPLE: Yes | ||
|No | |EXAMPLE: No | ||
|No | |EXAMPLE: No | ||
|EXAMPLE: | |EXAMPLE: | ||
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
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| | | | ||
| | | | ||
|EXAMPLE: | |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. | |}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== | ==Epigenomic Alterations== | ||
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|EXAMPLE: Unregulated cell division | |EXAMPLE: Unregulated cell division | ||
|- | |- | ||
|EXAMPLE: | |EXAMPLE: KMT2C and ARID1A; Inactivating mutations | ||
|EXAMPLE: | |EXAMPLE: Histone modification, chromatin remodeling | ||
|EXAMPLE: | |EXAMPLE: Abnormal gene expression program | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||