title: JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
authors.forename: Hee-Jung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Ja-Hyun
authors.initials: JH
authors.lastname: Jang
authors.forename: Eun-Hyung
authors.initials: EH
authors.lastname: Yoo
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: 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*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D053614:Janus Kinase 2