Prevalence of MPL W515L/K mutations in Taiwanese patients with Philadelphia-negative chronic myeloproliferative neoplasms.
BACKGROUND
The discovery of Janus kinase 2 (JAK2)-V617F has provided important insight into the pathogenesis of Philadelphia-negative chronic myeloproliferative neoplasms (Ph-negative MPNs); however, the etiology of JAK2(V617F)-negative Ph-negative MPN remains unidentified. MPL(W515L) and MPL(W515K) (MPL(W515L/K)) are 2 gain-of-function mutations, which have been found in some Ph-negative MPN patients from Western countries. However, little is known about the incidence of these mutations in Taiwanese Ph-negative MPN patients.


METHODS
We determined the MPL sequence of DNA samples from 105 patients, including 88 patients with Ph-negative MPNs and 17 with myelodysplastic syndrome, using polymerase chain reaction amplification of the cytokine receptor MPL exon 10 sequence.


RESULTS
All the patients were normal at codon 515 regardless of their JAK2 status.


CONCLUSIONS
The MPL W515L/K mutations are rare in Taiwanese patients with Ph-negative MPNs.
Department of Biotechnology and Laboratory Science in Medicine, School of Biomedical Science and Engineering, Taipei, Taiwan, R.O.C.
Chien-Hui
CH
Lieu
Yu-Jie
YJ
Shen
Wei-Chih
WC
Lai
Wen-Hui
WH
Tsai
Hui-Chi
HC
Hsu
D002908:Chronic Disease; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000453:epidemiology / Q000235:genetics*; D010677:Philadelphia Chromosome; D011087:Polycythemia Vera / Q000235:genetics; D055728:Primary Myelofibrosis / Q000235:genetics; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology; D013920:Thrombocythemia, Essential / Q000235:genetics
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human