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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 233 - 237 (5page)
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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.
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참고문헌 (20)
참고문헌 신청
Bench AJ / 2013 / Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations / Br J Haematol 160 : 25
Butcher CM / 2008 / Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients / Leukemia 22 : 870 ~ 873
Campbell PJ / 2005 / Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study / Lancet
Campbell PJ / 2006 / V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis / Blood 107 : 2098 ~ 2100
Chen CC / 2014 / Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia / Ann Hematol
Butcher CM / 2008 / Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients / Leukemia 22 : 870 ~ 873
Campbell PJ / 2005 / Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study / Lancet
Campbell PJ / 2006 / V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis / Blood 107 : 2098 ~ 2100
Chen CC / 2014 / Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia / Ann Hematol
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