JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 474-476, 2010.
Article
in English
| WPRIM
| ID: wpr-120818
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polycythemia Vera
/
Exons
/
Sequence Analysis, DNA
/
Amino Acid Substitution
/
Asian People
/
Janus Kinase 2
/
Receptors, Thrombopoietin
/
Republic of Korea
/
Thrombocythemia, Essential
/
Mutation
Limits:
Aged
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
The Korean Journal of Laboratory Medicine
Year:
2010
Type:
Article
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