GSBS Student Publications


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

UMMS Affiliation

Department of Biochemistry and Molecular Biology; Program in Molecular Medicine



Document Type


Medical Subject Headings

Adolescent; Adult; Aged; Aged, 80 and over; *Alleles; Amino Acid Substitution; Bone Marrow Cells; *Chromosome Aberrations; Disease-Free Survival; Female; Humans; Janus Kinase 2; Male; Middle Aged; Phenylalanine; Polycythemia Vera; Prognosis; Retrospective Studies; Valine


Life Sciences | Medicine and Health Sciences


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 > or = 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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Citation: Eur J Haematol. 2008 Mar;80(3):197-200. Epub 2007 Dec 7. Link to article on publisher's site

DOI of Published Version


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Link to Article in PubMed

Journal Title

European journal of haematology

PubMed ID