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Disease-Specific Template with Instructions (view source)
Revision as of 14:13, 1 February 2024
, 1 Februaryno edit summary
{| class="wikitable"
{| class="wikitable"
|'''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==
!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive (universal)||EXAMPLE: CD1
|-
|-
|Positive (subset)||
|Positive (subset)||
!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).
|}
|}
!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).
|}
|}
!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).
|
|
|
|
|EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference).
|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==
|EXAMPLE: Unregulated cell division
|EXAMPLE: Unregulated cell division
|-
|-
|EXAMPLE: KMT2C and ARID1A; Inactivating mutations
|EXAMPLE: KMT2C and ARID1A; Inactivating mutations
|EXAMPLE: Histone modification, chromatin remodeling
|EXAMPLE: Histone modification, chromatin remodeling
|EXAMPLE: Abnormal gene expression program
|EXAMPLE: Abnormal gene expression program
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==