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

Eur J Haematol. 2008 Mar;80(3):197-200. doi: 10.1111/j.1600-0609.2007.01003.x. Epub 2007 Dec 7.

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 > 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.

MeSH terms

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

Substances

  • Phenylalanine
  • JAK2 protein, human
  • Janus Kinase 2
  • Valine