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

• Published in: European journal of haematology 2008-03, Vol.80 (3), p.197-200
• Main Authors: Gangat, Naseema, Strand, Jacob, Lasho, Terra L., Finke, Christy M., Knudson, Ryan A., Pardanani, Animesh, Li, Chin-Yang, Ketterling, Rhett P., Tefferi, Ayalew
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Amino Acid Substitution - genetics; Bone Marrow Cells - enzymology; Bone Marrow Cells - pathology; Chromosome Aberrations; cytogenetics; Disease-Free Survival; Female; Humans; Janus Kinase 2 - genetics; karyotype; Male; Middle Aged; myeloid disorders; Phenylalanine - genetics; polycythemia vera; Polycythemia Vera - diagnosis; Polycythemia Vera - enzymology; Polycythemia Vera - genetics; Polycythemia Vera - mortality; Prognosis; Retrospective Studies; Valine - genetics
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1111/j.1600-0609.2007.01003.x

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.