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🌱 來自: overview of myeloproliferative neoplasms

mutations useful as clonal markers and dx tools of myeloproliferative neoplasms

Gain of fxn mutations in JAK2 V617F (Janus kinase) frequently present (PV ~95%, ET ~50%, PMF ~50%; NEJM 2005;352:1779)

BCR-ABL1 fusion in all cases of CML; SETBP1 in aCML

CALR exon 9 mutation, type I and II (most MPNs w/o JAK2 or MPL mutation, including ~25% of ET, ~35% of myelofibrosis Pts; NEJM 2013;369:2379 & 2391)

Type I has better prognosis.

MPL, TET2, & ASXL1 mutation w/ lower frequency

CSF3R mutation present in ~60% of CNL; KIT D816V in 90% of systemic mastocytosis