Difference between revisions of "CNS5:Diffuse leptomeningeal glioneuronal tumour"

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{{Under Construction}}
 
{{Under Construction}}
==Primary Author(s)*==
 
 
Put your text here (Example: Jane Smith, PhD, Institute of Genomics)
 
  
 
__TOC__
 
__TOC__
  
==Cancer Category/Type==
+
<span style="color:#0070C0">(''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (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 for 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'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].''</span>
 
+
==Primary Author(s)*==
Put your text here
+
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
 
+
==WHO Classification of Disease==
==Cancer Sub-Classification / Subtype==
+
<span style="color:#0070C0">(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)</span>
 
+
{| class="wikitable"
Put your text here
+
!Structure
 
+
!Disease
 +
|-
 +
|Book
 +
|
 +
|-
 +
|Category
 +
|
 +
|-
 +
|Family
 +
|
 +
|-
 +
|Type
 +
|
 +
|-
 +
|Subtype(s)
 +
|
 +
|}
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
 
+
Put your text here <span style="color:#0070C0">(''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.'') </span>
Put your text here
 
 
 
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==
 
+
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
Put your text here
 
 
 
 
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
 
 
Put your text here
 
Put your text here
 
 
==Clinical Features==
 
==Clinical Features==
 +
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
 +
{| class="wikitable"
 +
|'''Signs and Symptoms'''
 +
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
 +
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
  
Put your text here
+
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
 
+
|-
 +
|'''Laboratory Findings'''
 +
|<span class="blue-text">EXAMPLE:</span> Cytopenias
 +
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
 +
|}
 
==Sites of Involvement==
 
==Sites of Involvement==
 
+
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
Put your text here
 
 
 
 
==Morphologic Features==
 
==Morphologic Features==
 
+
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of typically approximately one paragraph'') </span>
Put your text here
 
 
 
 
==Immunophenotype==
 
==Immunophenotype==
 
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
Put your text here and/or fill in the table
 
 
 
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
|Positive (universal)||EXAMPLE CD1
+
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
 
|-
 
|-
|Positive (subset)||EXAMPLE CD2
+
|Positive (subset)||
 
|-
 
|-
|Negative (universal)||EXAMPLE CD3
+
|Negative (universal)||
 
|-
 
|-
|Negative (subset)||EXAMPLE CD4
+
|Negative (subset)||
 
|}
 
|}
 
 
==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
 
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'')</span>
Put your text here and/or fill in the table
 
 
 
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
+
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|-
+
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
+
|<span class="blue-text">EXAMPLE:</span> Yes
|}
+
|<span class="blue-text">EXAMPLE:</span> No
+
|<span class="blue-text">EXAMPLE:</span> Yes
==Characteristic Chromosomal Aberrations / Patterns==
+
|<span class="blue-text">EXAMPLE:</span>
 
+
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).
Put your text here
+
|}
 
+
==Individual Region Genomic Gain / Loss / LOH==
==Genomic Gain/Loss/LOH==
+
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span>
 
 
Put your text here and/or fill in the table
 
 
 
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
+
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
+
|<span class="blue-text">EXAMPLE:</span>
 +
7
 +
|<span class="blue-text">EXAMPLE:</span> Loss
 +
|<span class="blue-text">EXAMPLE:</span>
 +
chr7:1-159,335,973 [hg38]
 +
|<span class="blue-text">EXAMPLE:</span>
 +
chr7
 +
|<span class="blue-text">EXAMPLE:</span> Yes
 +
|<span class="blue-text">EXAMPLE:</span> Yes
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span>
 +
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 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
+
|<span class="blue-text">EXAMPLE:</span>
|}
+
8
+
|<span class="blue-text">EXAMPLE:</span> Gain
==Gene Mutations (SNV/INDEL)==
+
|<span class="blue-text">EXAMPLE:</span>
 
+
chr8:1-145,138,636 [hg38]
Put your text here and/or fill in the tables
+
|<span class="blue-text">EXAMPLE:</span>
 
+
chr8
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span>
 +
Common recurrent secondary finding for t(8;21) (add reference).
 +
|}
 +
==Characteristic Chromosomal Patterns==
 +
Put your text here <span style="color:#0070C0">(''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.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
+
!Chromosomal Pattern
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
+
|<span class="blue-text">EXAMPLE:</span>
|}
+
Co-deletion of 1p and 18q
+
|<span class="blue-text">EXAMPLE:</span> Yes
===Other Mutations===
+
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span>
 +
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 +
|}
 +
==Gene Mutations (SNV / INDEL)==
 +
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
!Type!!Gene/Region/Other
+
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
 +
!'''Diagnostic Significance (Yes, No or Unknown)'''
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
+
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|-
+
<span class="blue-text">EXAMPLE:</span>
|Secondary Mutations||EXAMPLE Trisomy 7
 
|-
 
|Mutually Exclusive||EXAMPLE EGFR Amplification
 
|}
 
  
==Epigenomics (Methylation)==
+
''EGFR''; Exon 20 mutations
  
 +
<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
 +
|<span class="blue-text">EXAMPLE:</span> TSG
 +
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
 +
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
 +
|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
 +
|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
 +
|<span class="blue-text">EXAMPLE:</span> Yes
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span> No
 +
|<span class="blue-text">EXAMPLE:</span> 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==
 
Put your text here
 
Put your text here
 
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
 
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
Put your text here
+
{| class="wikitable sortable"
 
+
|-
==Diagnostic Testing Methods==
+
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
+
|-
 +
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
 +
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
 +
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
 +
|-
 +
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
 +
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
 +
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
 +
|-
 +
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
 +
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
 +
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
 +
|}
 +
==Genetic Diagnostic Testing Methods==
 
Put your text here
 
Put your text here
 
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
 
 
Diagnosis: Put your text here
 
 
Prognosis: Put your text here
 
 
Therapeutic: Put your text here
 
 
 
==Familial Forms==
 
==Familial Forms==
 
+
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
 +
==Additional Information==
 
Put your text here
 
Put your text here
 
==Other Information==
 
 
Put your text here
 
 
 
==Links==
 
==Links==
 
+
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''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.'')</span>
Put your links here (use "Link" icon at top of page)
 
 
 
 
==References==
 
==References==
(use "Cite" icon at top of page)
+
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''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.''</span> <span style="color:#0070C0">''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''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span>
<references />
 
===EXAMPLE Book===
 
 
 
#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
 
 
 
 
==Notes==
 
==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.
+
<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.

Revision as of 09:48, 11 September 2024

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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 for 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 FAQs as well as contact your Associate Editor or Technical Support.

Primary Author(s)*

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)

Structure Disease
Book
Category
Family
Type
Subtype(s)

Definition / Description of Disease

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

Put your text here (Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.)

Epidemiology / Prevalence

Put your text here

Clinical Features

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

Signs and Symptoms EXAMPLE: Asymptomatic (incidental finding on complete blood counts)

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

EXAMPLE: Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE: Cytopenias

EXAMPLE: Lymphocytosis (low level)

Sites of Involvement

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

Morphologic Features

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.)

Finding Marker
Positive (universal) EXAMPLE: CD1
Positive (subset)
Negative (universal)
Negative (subset)

Chromosomal Rearrangements (Gene Fusions)

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

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: 3'ABL1 / 5'BCR EXAMPLE: der(22) EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add reference)

EXAMPLE: Yes EXAMPLE: No EXAMPLE: Yes 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).

Individual Region Genomic Gain / Loss / LOH

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.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

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

EXAMPLE:

chr7

EXAMPLE: Yes EXAMPLE: Yes EXAMPLE: No 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:

8

EXAMPLE: Gain EXAMPLE:

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

EXAMPLE:

chr8

EXAMPLE: No EXAMPLE: No EXAMPLE: No EXAMPLE:

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

Characteristic Chromosomal Patterns

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.)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: Yes EXAMPLE: No EXAMPLE: No EXAMPLE:

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

Gene Mutations (SNV / INDEL)

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.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE: Yes EXAMPLE: No EXAMPLE: No 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

Put your text here

Genes and Main Pathways Involved

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

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations EXAMPLE: Histone modification, chromatin remodeling EXAMPLE: Abnormal gene expression program

Genetic Diagnostic Testing Methods

Put your text here

Familial Forms

Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)

Additional Information

Put your text here

Links

(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 "http://www." 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

*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.