JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 474-476, 2010.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Policitemia Vera
/
Éxons
/
Análise de Sequência de DNA
/
Substituição de Aminoácidos
/
Povo Asiático
/
Janus Quinase 2
/
Receptores de Trombopoetina
/
República da Coreia
/
Trombocitemia Essencial
/
Mutação
Limite:
Idoso
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2010
Tipo de documento:
Artigo
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