Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
Annals of Laboratory Medicine
;
: 22-27, 2015.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Exons
/
Séquence d'acides aminés
/
Calréticuline
/
Kinase Janus-2
/
Récepteurs à la thrombopoïétine
/
Numération des leucocytes
/
Mutation
Limites du sujet:
Adolescent
/
Adulte
/
Adulte très âgé
/
Aged80
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Annals of Laboratory Medicine
Année:
2015
Type:
Article
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