HAEM5:Polycythaemia vera: Difference between revisions

{{DISPLAYTITLE:Polycythaemia vera}}

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

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==WHO Essential and Desirable Genetic Diagnostic Criteria==

<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>

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None

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

* Gene Mutations (SNV/INDEL)}}</blockquote>

*Major criteria

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Frequent cytogenetic abnormalities are listed below<ref name=":0" />.

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Cytogenetic abnormalities is present about 20% of the cases (see genomic gain/loss/LOH section). Associated with progression and adverse prognosis<ref name=":1">{{Cite journal|last=A|first=Tefferi|last2=T|first2=Barbui|date=2019|title=Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management|url=https://pubmed.ncbi.nlm.nih.gov/30281843/|language=en|pmid=30281843}}</ref><ref>{{Cite journal|last=G|first=Tang|last2=Je|first2=Hidalgo Lopez|last3=Sa|first3=Wang|last4=S|first4=Hu|last5=J|first5=Ma|last6=S|first6=Pierce|last7=W|first7=Zuo|last8=Aa|first8=Carballo-Zarate|last9=Cc|first9=Yin|date=2017|title=Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera|url=https://pubmed.ncbi.nlm.nih.gov/28473622/|language=en|doi=10.3324/haematol.2017.165795|pmc=PMC5685217|pmid=28473622}}</ref>.

|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

*''JAK2'' V617F mutations

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*''JAK2'' is physically bound to homodimeric receptors: EPOR, MPL and G-CSFR and act as the catalytic part of these receptors upon the binding of the cytokine to the receptor.

(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. 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. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />

==Notes==

          

<nowiki>*</nowiki>''Citation of this Page'': “Polycythaemia vera”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Polycythaemia_vera</nowiki>.