Clinical Edge

Summaries of Must-Read Clinical Literature, Guidelines, and FDA Actions

Targeted Deep Sequencing in Polycythemia Vera

Blood Advances; 2017 Jan; Tefferi, Lasho, et al

Publish date:

Targeted deep sequencing in people with polycythemia vera (PV) or essential thrombocythemia (ET) allows for genetic risk stratification, according to a study involving 133 individuals.

Investigators used either a myeloid neoplasm–relevant 27-gene panel to sequence bone marrow, or whole blood DNA and conventional tools in participants with PV or ET. They analyzed the impact of adverse variants/mutations on overall, leukemia-free, and myelofibrosis-free survival. Among the results:

  • Slightly more than half of PV patients had 1 or more sequence variants/mutations other than JAK2/CALR/MPL; the same was true in those with ET.
  • The most common variants/mutations were TET2 and ASXL1.
  • Adverse variants/mutations in PV included ASXL1, SRSF2, and IDH2; in ET, they were SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2.
  • Combined prevalence of the adverse variants/mutations was 15% in each group.
  • The presence of adverse variants/mutations nearly tripled the odds of inferior survival in PV patients, and more than doubled the odds of such in those with ET.

Citation:

Tefferi A, Lasho T, Guglielmelli P, et al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Advances. 20171:21-30. doi:10.1182/bloodadvances.2016000216.

This Week's Must Reads