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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])''

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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); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. 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)*==

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

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Put your text here (''EXAMPLE:'' Jane Smith, PhD)

==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: 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==

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Put your text here

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Put your text here (''Instructions: Brief description of typically approximately one paragraph'')

==Immunophenotype==

Put your text here and fill in the table (''Instruction: Can include references in the table. Do not delete table.'')

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!Finding!!Marker

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|Positive (universal)||EXAMPLE: CD1

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|Positive (universal)||EXAMPLE: CD1

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|Positive (subset)||

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!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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|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

|-

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|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:

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

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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).

|-

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|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

|-

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|EXAMPLE: TP53; Variable LOF mutations

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|EXAMPLE: ''TP53''; Variable LOF mutations

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EXAMPLE:

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EXAMPLE:

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EGFR; Exon 20 mutations

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''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

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|

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|EXAMPLE: Yes

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|

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|EXAMPLE: No

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|

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|EXAMPLE: No

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|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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Put your text here

==Links==

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~~Put your text placeholder here~~ (~~or anywhere appropriate on the page) and~~ use the "Link" icon at the top of the page (''Instructions: ~~Once you have a~~ text ~~placeholder entered~~ to which you want to add a link~~, highlight that text~~, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "<nowiki>http://www</nowiki>." portion.'')

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(use the "Link" icon that looks like two overlapping circles at the top of the page) (''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')

==References==

(use the "Cite" icon at the top of the page) (''Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted.'' ''If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference''''.'')

==Notes==

<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.

Jennelleh

Bureaucrats, Editors, Administrators

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Changes

Disease-Specific Template with Instructions (view source)

Revision as of 10:15, 23 February 2024