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Genetic Risk Assessment in Patients with MPNs

Mayo Clin Proc; 2017 Aug; Tefferi, Vannucchi

Publish date:: August 13, 2017

Besides age, genetic information is the most important determinant of survival in patients with JAK2 mutation-enriched myeloproliferative neoplasms, according to a recent review. Among the authors’ observations:

It is important to consider karyotype, driver mutational status, and presence of other mutations.
Karyotype carries prognostic relevance in polycythemia vera (PV; abnormal vs normal) and primary myelofibrosis (PMF; unfavorable vs favorable abnormalities).
Driver mutational status is most relevant in PMF; patients with type 1/type 1-like CALR tend to experience superior survival.
ASXL1 and SRSF2 mutations are linked with inferior overall, leukemia-free, or fibrosis-free survival in both PV and PMF.
Further enhancement of genetic risk stratification is possible by combining cytogenetic and mutation information and developing a prognostic model that is adjusted for age.

Citation:

Tefferi A, Vannucchi A. Genetic risk assessment in myeloproliferative neoplasms. Mayo Clin Proc. 2017;92(6):555-561. doi:10.1016/j.mayocp.2017.06.002.

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