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HAEM5:Cold agglutinin disease (view source)

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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]

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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

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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 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)

__TOC__

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==Definition / Description of Disease==

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Put your text here (''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories ~~referring to the specific WHO book pages~~, diagnostic criteria if applicable, and differential diagnosis if applicable'')

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Put your text here (''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.'')

==Synonyms / Terminology==

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==Clinical Features==

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Put your text here and fill in the table (''Instruction: Can include references in the table'')

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

{| 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)

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|'''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)

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==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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==Immunophenotype==

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{| class="wikitable sortable"

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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)||EXAMPLE CD2

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|Positive (subset)||EXAMPLE: CD2

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|Negative (universal)||EXAMPLE CD3

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|Negative (universal)||EXAMPLE: CD3

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|Negative (subset)||EXAMPLE CD4

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|Negative (subset)||EXAMPLE: CD4

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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)

|Yes

|No

|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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==Individual Region Genomic Gain / Loss / LOH==

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Put your text here and fill in the table (''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.'')

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Put your text here and fill in the table (''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.'')

{| class="wikitable sortable"

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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:

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

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|EXAMPLE

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|EXAMPLE:

chr7

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|Yes

|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:

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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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|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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==Characteristic Chromosomal Patterns==

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Put your text here (''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis'')

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Put your text here (''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')

{| class="wikitable sortable"

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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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|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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==Gene Mutations (SNV / INDEL)==

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Put your text here and fill in the table (''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well 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.'')

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Put your text here and fill in the table (''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.'')

{| class="wikitable sortable"

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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:

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

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

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==Genes and Main Pathways Involved==

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Put your text here and fill in the table (''Instructions: Can include references in the table.'')

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

{| class="wikitable sortable"

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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

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==Genetic Diagnostic Testing Methods==

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==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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Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon 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==

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