Disease-Specific Template: Difference between revisions
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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. 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)*== | ==Primary Author(s)*== | ||
Put your text here ( | Put your text here (''Name and affiliation; example:'' Jane Smith, PhD, Institute of Genomics) | ||
__TOC__ | __TOC__ | ||
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==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
Put your text here | 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'') | ||
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
Put your text here | Put your text here (''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') | ||
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
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==Clinical Features== | ==Clinical Features== | ||
Put your text here | Put your text here and fill in the table (''Instruction: Can include references in the table'') | ||
{| class="wikitable" | |||
|'''Signs and Symptoms''' | |||
|EXAMPLE Asymptomatic (incidental finding on complete blood counts) | |||
EXAMPLE B-symptoms (weight loss, fever, night sweats) | |||
EXAMPLE Fatigue | |||
EXAMPLE Lymphadenopathy (uncommon) | |||
|- | |||
|'''Laboratory Findings''' | |||
|EXAMPLE Cytopenias | |||
EXAMPLE Lymphocytosis (low level) | |||
|} | |||
==Sites of Involvement== | ==Sites of Involvement== | ||
Put your text here | Put your text here (''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') | ||
==Morphologic Features== | ==Morphologic Features== | ||
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==Immunophenotype== | ==Immunophenotype== | ||
Put your text here and | Put your text here and fill in the table (''Instruction: Can include references in the table'') | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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|- | |- | ||
!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)Signs and Symptoms''' | |||
|'''Prognostic Significance (Yes, No or Unknown)Signs and Symptoms''' | |||
|'''Therapeutic Significance (Yes, No or Unknown)Signs and Symptoms''' | |||
|'''NotesSigns and Symptoms''' | |||
|- | |- | ||
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE | |EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | ||
| | EXAMPLE 30% (add reference) | ||
|EXAMPLE t( | |Yes | ||
|No | |||
|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). | |||
|} | |} | ||