HAEM5:Myeloid/lymphoid neoplasm with JAK2 rearrangement: Difference between revisions

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Jessica Snider, M.D. and Daynna J. Wolff, PhD

==WHO Classification of Disease==

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|Not Recommended

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* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

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

Due to the variations in presentation, the prognosis is mainly dependent on the phase at presentation, but generally tends to have an aggressive course¹. There currently are no approved therapies for ''PCM1/JAK2''-mediated myeloid/lymphoid neoplasm with eosinophilia; however, ''JAK2'' inhibitors have been approved for other hematopoietic neoplasms with constitutively activated ''JAK2'' kinases.²

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There are no known recurrent genomic loss/gain or LOH pattern associated with entity.

!Chromosomal Pattern

!Molecular Pathogenesis

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There are no known secondary chromosomal changes and no pattern of other chromosome aberrations.   

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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.

Given the rarity of the entity, there are no known recurrent aberrations. For the largest series studied, most cases were negative for mutations. However, some cases showed variants in genes associated with myeloid malignancies (ASXL1, RUNX1, SRSF2, TET2, BCOR) and one patient with B-ALL transformation showed variants in ETV6 and TP53<ref name=":2" />

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''PCM1'' (pericentriolar material 1) is a protein present in cytoplasmic granules and can be found in association with the centrosome. ''PCM1'' is indirectly responsible for microtubule anchoring, which is necessary for a variety of cellular functions, including intracellular transport and cell division. The gene is located at band 8p22 and includes 41 exons.⁵

''JAK2'' (janus kinase 2) is a tyrosine kinase responsible for activation of the ''JAK-STAT'' pathway by mediating tyrosine phosphorylation, leading to cell proliferation and differentiation. Constitutive activation of ''JAK2'' can result from chromosomal translocations and lead to uncontrolled proliferation of hematopoietic cells. The gene is located at band 9p24.1 and includes 25 exons.⁶

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==Notes==

          

<nowiki>*</nowiki>''Citation of this Page'': “Myeloid/lymphoid neoplasm with JAK2 rearrangement”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasm_with_JAK2_rearrangement</nowiki>.