Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Annals of Laboratory Medicine
; : 233-237, 2015.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-29325
Biblioteca responsable:
WPRO
ABSTRACT
We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CALR mutation status, and their clinical features and prognosis were compared. CALR mutations were detected in 15 (24.2%) patients, and the incidence increased to 50.0% in 30 JAK2 V617F mutation-negative cases. These included 11 patients with three known mutations (c.1092_1143del [seven cases], c.1154_1155insTTGTC [three cases], and c.1102_1135del [one case]) and 4 patients with novel mutations. ET patients carrying CALR mutation were younger, had lower white blood cell counts, and experienced less thrombosis during follow-up than those carrying JAK2 V617F mutation, while both patient groups showed similar clinical features and prognosis. In ET patients without JAK2 V617F mutation, CALR mutation did not significantly affect clinical manifestation and prognosis. In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. The prognostic impact of CALR mutations needs further investigation.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Análisis Mutacional de ADN
/
Exones
/
Calreticulina
/
Janus Quinasa 2
/
Mutación INDEL
/
Mielofibrosis Primaria
/
República de Corea
/
Centros de Atención Terciaria
/
Genotipo
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Adulto
/
Anciano
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2015
Tipo del documento:
Artículo