Development of chronic myeloid leukemia in a patient previously diagnosed with a JAK2-positive myeloproliferative neoplasm

Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination

“…At CML occurrence, WBC increase was the most common laboratory sign, observed in 38 of 42 cases with available data (4-43, 45-51), followed by anemia in 17/42 (6, 16, 17, 23, 27, 31, 37-39, 45, 50); basophilia in 17-42 (6,13,17,23,27,35,38,41,45,(47)(48)(49)(50); PTL decrease in 9/42 (13,27,(37)(38)(39)45); leukoerythroblastosis in 7/42 (17,31,43,45,48); PTL increase in 6/42 (6,22,23,37,39,48); eosinophilia in 6/42 (13,41,45,47,48), and LDH increase in 2/42 (27,48). In this group, splenomegaly was detected in just under half of cases (20/42) (6,8,13,16,17,23,27,28,31,32,43,…”

“…In Group 1, BM histology performed at the time of CML occurrence in 35/43 cases showed the following features: CML, CP in the majority of cases (13/35) (15-17, 21, 27, 32, 38, 39, 42, 43, 51); CML accelerated phase (AP) in 3/35 (6,39,50); CML+fibrosis in 7/35 (31,41,(47)(48)(49), hence a total of 23/35 cases showed histological features reminiscent of CML; PET-MF histology in 3/ 35 (22,23,46); PPV-MF histology in 2/35 (48,51); PMF histology in 1/35 (28); whereas hybrid features were observed in the remaining cases as follows: PPV-MF+CML in 3/35 (39,45) with hybrid MKs both hypo-lobate and large hyper-lobate detected in 1/3 (45); PET-MF+CML in 2/35 (38,39) with hybrid MKs in 1/2 (38); CML with hybrid MKs in 1/35 cases (48).…”