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Genetic risk assessment in myeloproliferative neoplasms

Mayo Clinic Proceedings Aug 18, 2017

Tefferi A, et al. – The topic of exploration here was the genetic risk assessment in myeloproliferative neoplasms. The observation made was that ASXL1 and SRSF2 mutations appeared to be related to inferior overall, leukemia–free, or fibrosis–free survival in both polycythemia vera (PV) and primary myelofibrosis (PMF). A targeted sequencing study determined additional other adverse mutations in both these disorders and in essential thrombocythemia (ET). The additional enhancement of genetic risk stratification in myeloproliferative neoplasms could be achieved by combining cytogenetic and mutation information and developing a prognostic model, adjusted for age.
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