Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
Annals of Laboratory Medicine
;
: 22-27, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-34580
ABSTRACT
BACKGROUND:
Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics.METHODS:
A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutation was analyzed by the direct sequencing method.RESULTS:
CALR mutations were detected in 21.9% of ET and 16.7% of PMF patients, which accounted for 58.5% and 33.3% of ET and PMF patients without Janus kinase 2 (JAK2) or myeloproliferative leukemia virus oncogenes (MPL) mutations, respectively. A total of five types of mutation were detected, among which, L367fs*46 (53.6%) and K385fs*47 (35.7%) were found to be the most common. ET patients with CALR mutation had lower leukocyte counts and ages compared with JAK2-mutated ET patients.CONCLUSION:
Genotyping for CALR could be a useful diagnostic tool for JAK2-or MPL-negative ET or PMF patients. CALR mutation may be a distinct disease group, with different hematological characteristics than that of JAK2-positive patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Éxons
/
Sequência de Aminoácidos
/
Calreticulina
/
Janus Quinase 2
/
Receptores de Trombopoetina
/
Contagem de Leucócitos
/
Mutação
Limite:
Adolescente
/
Adulto
/
Idoso
/
Aged80
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
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