Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
Annals of Laboratory Medicine
; : 22-27, 2015.
Article
in En
| WPRIM
| ID: wpr-34580
Responsible library:
WPRO
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.
Key words
Full text:
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Index:
WPRIM
Main subject:
DNA Mutational Analysis
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Molecular Sequence Data
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Base Sequence
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Exons
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Amino Acid Sequence
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Calreticulin
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Janus Kinase 2
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Receptors, Thrombopoietin
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Leukocyte Count
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Mutation
Limits:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
Language:
En
Journal:
Annals of Laboratory Medicine
Year:
2015
Type:
Article