JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.
JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N=4) at our institution between June 2006 and February 2010. Among them, 35 (55.6%) had the JAK2 V617F mutation. MPL W515L/K mutations were detected by direct sequencing analyses of exon 10, and 2 patients were found to harbor the following MPL mutations: W515L in 1 patient with ET and W515K in 1 patient with post-ET MF. Neither of the patients had the JAK2 V617F mutation. Thus, the frequency of MPL W515L/K mutation in Korean patients with ET/post-ETMF was 3.2% (2/63) and that in JAK2 V617F-negative ET/post-ET MF was 7.1% (2/28) [corrected]. This is the first study to report the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET/post-ET MF.
Kim
Hee-Jung
HJ
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
Jang
Ja-Hyun
JH
Yoo
Eun-Hyung
EH
Kim
Hee-Jin
HJ
Ki
Chang-Seok
CS
Kim
Jong-Won
JW
Kim
Sun-Hee
SH
D000368:Aged; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011087:Polycythemia Vera / Q000235:genetics; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D013920:Thrombocythemia, Essential / Q000175:diagnosis / Q000235:genetics*
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D053614:Janus Kinase 2