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Disease-Specific Template with Instructions (view source)

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(''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ HUGO-approved gene names and symbols] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' ''[[Author_Instructions]]'' ''and [[Frequently Asked Questions (FAQs)|FAQs]] as well as contact your [[Leadership|Associate Editor]] or [mailto:CCGA@cancergenomics.org Technical Support])''

==Primary Author(s)*==

−

Put your text here (''Name and affiliation; ~~example~~:'' Jane Smith, PhD, Institute of Genomics)

+

Put your text here (''Name and affiliation; EXAMPLE:'' Jane Smith, PhD, Institute of Genomics)

==WHO Classification of Disease==

(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)

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{| class="wikitable"

|'''Signs and Symptoms'''

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|EXAMPLE: Asymptomatic (incidental finding on complete blood counts)

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|EXAMPLE: Asymptomatic (incidental finding on complete blood counts)

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

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

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EXAMPLE: Fatigue

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EXAMPLE: Fatigue

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EXAMPLE: Lymphadenopathy (uncommon)

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EXAMPLE: Lymphadenopathy (uncommon)

|-

|'''Laboratory Findings'''

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|EXAMPLE: Cytopenias

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|EXAMPLE: Cytopenias

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EXAMPLE: Lymphocytosis (low level)

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EXAMPLE: Lymphocytosis (low level)

|}

==Sites of Involvement==

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Put your text here (''Instruction: Indicate physical sites; ~~Example~~: nodal, extranodal, bone marrow'')

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Put your text here (''Instruction: Indicate physical sites; EXAMPLE: nodal, extranodal, bone marrow'')

==Morphologic Features==

Put your text here

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!Finding!!Marker

|-

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|Positive (universal)||EXAMPLE: CD1

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|Positive (universal)||EXAMPLE: CD1

|-

|Positive (subset)||

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!Notes

|-

−

|EXAMPLE: t(9;22)(q34;q11.2)||EXAMPLE: 3'ABL1 / 5'BCR||EXAMPLE: der(22)||EXAMPLE: 20% (COSMIC)

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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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EXAMPLE: 30% (add reference)

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EXAMPLE: 30% (add reference)

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE:

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|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).

|}

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!Notes

|-

−

|EXAMPLE:

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|EXAMPLE:

7

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|EXAMPLE: Loss

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|EXAMPLE: Loss

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|EXAMPLE:

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|EXAMPLE:

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

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|EXAMPLE:

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|EXAMPLE:

chr7

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE:

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|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:

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|EXAMPLE:

8

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|EXAMPLE: Gain

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|EXAMPLE: Gain

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|EXAMPLE:

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|EXAMPLE:

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

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|EXAMPLE:

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|EXAMPLE:

chr8

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE:

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|EXAMPLE:

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

|}

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!Notes

|-

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|EXAMPLE:

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|EXAMPLE:

Co-deletion of 1p and 18q

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|EXAMPLE: Yes

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|EXAMPLE: Yes

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE: No

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|EXAMPLE:

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|EXAMPLE:

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

|}

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!Notes

|-

−

|EXAMPLE: TP53; Variable LOF mutations

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|EXAMPLE: TP53; Variable LOF mutations

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EXAMPLE:

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EXAMPLE:

EGFR; Exon 20 mutations

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EXAMPLE: BRAF; Activating mutations

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EXAMPLE: BRAF; Activating mutations

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|EXAMPLE: TSG

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|EXAMPLE: TSG

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|EXAMPLE: 20% (COSMIC)

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|EXAMPLE: 20% (COSMIC)

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EXAMPLE: 30% (add Reference)

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EXAMPLE: 30% (add Reference)

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|EXAMPLE: IDH1 R123H

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|EXAMPLE: IDH1 R123H

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|EXAMPLE: EGFR amplification

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|EXAMPLE: EGFR amplification

|

−

|EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference).

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|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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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome

|-

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|EXAMPLE: BRAF and MAP2K1; Activating mutations

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|EXAMPLE: BRAF and MAP2K1; Activating mutations

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|EXAMPLE: MAPK signaling

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|EXAMPLE: MAPK signaling

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|EXAMPLE: Increased cell growth and proliferation

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|EXAMPLE: Increased cell growth and proliferation

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|EXAMPLE: CDKN2A; Inactivating mutations

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|EXAMPLE: CDKN2A; Inactivating mutations

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|EXAMPLE: Cell cycle regulation

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|EXAMPLE: Cell cycle regulation

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|EXAMPLE: Unregulated cell division

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|EXAMPLE: Unregulated cell division

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|EXAMPLE: KMT2C and ARID1A; Inactivating mutations

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|EXAMPLE: KMT2C and ARID1A; Inactivating mutations

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|EXAMPLE: Histone modification, chromatin remodeling

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|EXAMPLE: Histone modification, chromatin remodeling

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|EXAMPLE: Abnormal gene expression program

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|EXAMPLE: Abnormal gene expression program

|}

==Genetic Diagnostic Testing Methods==

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