What is the role of genetics in the etiology of polycythemia vera (PV)?

Updated: Sep 20, 2021
  • Author: Srikanth Nagalla, MD, MS, FACP; Chief Editor: Sara J Grethlein, MD, FACP  more...
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The following genetic abnormalities, which are similar to the abnormal karyotypes observed in patients with myelodysplastic syndromes and other MPDs, have been observed in patients with PV:

  • Deletion of 20q (8.4%)

  • Deletion of 13q (3%)

  • Trisomy 8 (7%)

  • Trisomy 9 (7%)

  • Trisomy of 1q (4%)

  • Deletion of 5q or monosomy 5 (3%)

  • Deletion of 7q or monosomy 7 (1%)

Spivak and colleagues analyzed gene expression in CD34+ peripheral-blood cells from 19 patients with PV and found twice as many up-regulated or down-regulated genes in men as in women. In addition, these researchers found 102 genes with differential regulation that was concordant in men and women and that could be used to divide patients into two phenotypical groups. The groups differed significantly with respect to disease duration, clinical manifestations, and prognosis. [14]

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