Published in:
01-10-2009 | Letter to the Editor
Two rare MPL gene mutations in patients with essential thrombocythemia
Authors:
Haruhiko Ohashi, Kayoko Arita, Shoko Fukami, Kayo Oguri, Hirokazu Nagai, Toshiya Yokozawa, Tomomitsu Hotta, Shuichi Hanada
Published in:
International Journal of Hematology
|
Issue 3/2009
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Excerpt
In contrast to polycythemia vera, approximately half of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) are negative for JAK2-V617F [
1]. Two missense mutations in Codon 515 of the thrombopoietin receptor (TpoR/MPL) gene (W515L and W515K) have been found in a small portion (1–9%) of ET and PMF patients [
2‐
4], and several other MPL exon 10 mutations have also been reported [
5]. In the process of examining samples of 20 JAK2-V617F-negative ET patients for MPL mutations, other than three patients with W515K, we found two patients with sequence alterations that had not been reported in ET patients. …