Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V>F-positive and -negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms.

Abstract excerpt

OBJECTIVE: Current evidence suggests that the JAK2617V>F point mutation is implicated in the pathogenesis of >90% of polycythemia vera (PV) patients, and in approximately 50% of primary myelofibrosis (PMF) and essential thrombocythemia patients. Novel JAK2 mutations were recently described in 5% to 15% of patients that are JAK2617V>F-negative. Additionally, JAK2 is reported to form fusion hybrids with three...

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