A t(3;8)(q26.2;q24) involving the EVI1 (MECOM) Gene.

Objectives: Polycythemia vera (PV) is a Philadelphia chromosome-negative myeloproliferative neoplasm (MPN) primarily characterized by increased red blood cell production. We report a case of a 68-year-old male with a history of PV. About four years later, the patient developed myelofibrosis. A bone marrow biopsy confirmed the presence of myelofibrosis confirmed by a hypercellular bone marrow (80%) with increased reticulin fibrosis (MF2-3), 5% blasts, and a normal 46,XY karyotype. A follow-up bone marrow biopsy documented acute myeloid leukemia (post-polycythemic myelofibrosis with acute leukemic transformation) with 20-30% blasts in the bone marrow. Chromosome analysis revealed an abnormal male karyotype with a t(3;8)(q26.2;q23) involving MECOM (EVI1) on 11q23 and confirmed by FISH and no PVTI rearrangement. To the best of our knowledge, this translocation has not been reported in acute myeloid leukemia (AML), de novo or therapy related-myelodysplastic syndrome (MDS), or MDS or myeloproliferative disorder progressing to AML. However, further studies need to be conducted to elucidate and identify the roles of genes other than MECOM involved in this peculiar translocation with such a poor prognosis.