HAEM5:Myeloproliferative neoplasm, NOS: Difference between revisions

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==Primary Author(s)*==

Thomas Lee, MD, PhD, University of California, Los Angeles

==WHO Classification of Disease==

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|Acceptable

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|Not Recommended

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There are no associated chromosomal rearrangements. There should be no ''BCR''-''ABL1'' or ''PCM1-JAK2'' fusion and no ''PDGFRA'', ''PDGFRB'', or ''FGFR1'' rearrangement. Rearrangements that have been reported include t(4;12)(q12;p13)<ref name=":5">{{Cite journal|last=Zhang|first=Ling|last2=Wang|first2=Man|last3=Wang|first3=Zheng|last4=Zeng|first4=Zhao|last5=Wen|first5=Lijun|last6=Xu|first6=Yi|last7=Yao|first7=Li|last8=Cen|first8=Jiannong|last9=Li|first9=Hongzhi|date=2020-10|title=Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13)|url=https://pubmed.ncbi.nlm.nih.gov/32734549|journal=Annals of Hematology|volume=99|issue=10|pages=2445–2447|doi=10.1007/s00277-020-04207-y|issn=1432-0584|pmid=32734549}}</ref>.

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

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

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There are no characteristic genomic gain/loss/LOH.

!Chromosomal Pattern

!Molecular Pathogenesis

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|<span class="blue-text">EXAMPLE:</span>

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|<span class="blue-text">EXAMPLE:</span>''EGFR''

|}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.

Mutations in ''JAK2'', ''MPL'', and ''CALR'' are recurrent. A subset of cases have been reported to be negative for mutations in these three genes (i.e. triple negative). Limited studies have reported mutations in other genes including ''ASXL1''<ref name=":3" /> and ''ZRSR2''<ref name=":3" /><ref name=":5" />.

!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)

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|''MPL''

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Mutations in ''JAK2'', ''CALR'', and ''MPL'' lead to constitutive activation of the Janus kinase/signal transducer and activator of transcription (JAK-STAT) pathway. ''JAK2'' V617F mutations affect signalling through the EPOR, MPL, and G-CSFR homodimeric receptors while ''CALR'' and ''MPL'' mutations affect signalling through MPL only<ref>{{Cite journal|last=Vainchenker|first=William|last2=Kralovics|first2=Robert|date=02 09, 2017|title=Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/28028029|journal=Blood|volume=129|issue=6|pages=667–679|doi=10.1182/blood-2016-10-695940|issn=1528-0020|pmid=28028029}}</ref>.

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==Notes==

          

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