Korean J Lab Med.  2010 Oct;30(5):474-476. 10.3343/kjlm.2010.30.5.474.

JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia

• Kim HJ
• Jang JH
• Yoo EH
• Kim HJ
• Ki CS
• Kim JW
• Kim SH

• KMID: 1022037
• DOI: http://doi.org/10.3343/kjlm.2010.30.5.474

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. The frequencies of the MPL W515L/K and JAK2 V617F-negative mutations in our subjects with ET/post-ET MF were 3.2% (2/63) and 7.1% (2/28), respectively. 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.

Keyword

Essential thrombocythemia; mutation; JAK2; MPL; Korea

MeSH Terms

Aged
Amino Acid Substitution
Asian Continental Ancestry Group/*genetics
Exons
Female
Humans
Janus Kinase 2/*genetics
Male
Middle Aged
*Mutation
Polycythemia Vera/genetics
Receptors, Thrombopoietin/*genetics
Republic of Korea
Sequence Analysis, DNA
Thrombocythemia, Essential/diagnosis/*genetics

Figure

• 

  Fig. 1. MPL gene mutations in 2 Korean patients with myeloproliferative neoplasms. Patient 1 with essential thrombocythemia (ET) had the W515L mutation from c.1544G>T with an allele burden of approximately 50%. Patient 2 with post-ET myelofibrosis had W515K from c.1543_1544TG>AA with an allele burden of approximately 100% (homozygous).

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