Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates

Authors


Ayalew Tefferi, MD, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Tel: +1 507 284 2479; Fax: +1 507 266 4972; e-mail: tefferi.ayalew@mayo.edu

Abstract

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 JAK2V617F 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.

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