Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2 V617F allele burden correlates

The prognostic significance of cytogenetic findings at diagnosis in polycythemia vera (PV) was investigated in a retrospective series of 137 patients. Cytogenetics were normal in 117 patients (85%) and displayed a −Y abnormality in five patients (7% of male patients), and other chromosomal abnormalities in 15 patients (11%). The most frequent cytogenetic anomalies were trisomy 8 ( n  = 4), trisomy 9 ( n  = 2), deletion 20q ( n  = 2) and chromosomal 1 abnormalities ( n  = 2). Parameters that were significantly associated with abnormal cytogenetics included age ≥60 yr ( P  = 0.02), but not JAK2 V617F allele burden, thrombosis, hemorrhage, leukemic/fibrotic transformation, or survival. We conclude that cytogenetic anomalies occur infrequently at PV diagnosis and do not confer an adverse outcome.