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Abstract
Amongst 42 consecutive patients with leukemic transformation (LT) from myelofibrosis
with myeloid metaplasia (MMM) 72% carried the JAK2(V617F) mutation. The mutation was
observed at expected frequencies in all subtypes of MMM and acute myeloid leukemia.
Although the patients with the mutation were younger and had a shorter interval to
LT there was no difference in survival. Additionally, both the lack of mutation status
progression in serial analysis (available in nine patients) and the low frequency
of patients with high mutated allele burden suggest that LT arising from MMM is probably
not dependent on changes in JAK2(V617F) mutation status.