JAK2 p.V617F detection and allele burden measurement in peripheral blood and bone marrow aspirates in patients with myeloproliferative neoplasms

Koichi Takahashi, Keyur P. Patel, Hagop Kantarjian, Rajyalakshmi Luthra, Sherry Pierce, Jorge Cortes, Srdan Verstovsek

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Detection of the JAK2 p.V617F mutation and measurement of its allele burden can be performed using both peripheral blood (PB) and bone marrow (BM) samples from patients with myeloproliferative neoplasms (MPNs). However, the diagnostic accuracy of detecting the JAK2 p.V617F mutation and quantifying its allele burden in PB and BM samples has not been systematically compared. We retrospectively analyzed 388 patients with MPN who had been tested for JAK2 p.V617F allele burden using both PB and BM samples within 3 months of each other. The sensitivity and specificity of detecting JAK2 p.V617F in PB when compared with BM were both 100%. Furthermore, the JAK2 p. V617F allele burden measured in PB and BM were equivalent by linear regression analysis (R2 5 0.991; P < .0001). We therefore conclude that PB is a reliable source for testing for the JAK2 p.V617F mutation and quantifying its allele burden in patients with MPN.

Original languageEnglish (US)
Pages (from-to)3784-3786
Number of pages3
JournalBlood
Volume122
Issue number23
DOIs
StatePublished - Nov 28 2013
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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