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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 22 - 27 (6page)
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초록· 키워드
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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.
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참고문헌 (14)
참고문헌 신청
Coppolino MG / 1997 / Calreticulin is essential for integrin-mediated calcium signalling and cell adhesion / Nature 386 : 843 ~ 847
Klampfl T / 2013 / Somatic mutations of calreticulin in myeloproliferative neoplasms / N Engl J Med 369 : 2379 ~ 2390
Kralovics R / 2005 / A gain-of-function mutation of JAK2 in myeloproliferative disorders / N Engl J Med 352 : 1779 ~ 1790
Li B / 2014 / Calreticulin mutations in Chinese with primary myelofibrosis / Haematologica
Lundberg P / 2014 / Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms / Blood 123 : 2220 ~ 2228
Klampfl T / 2013 / Somatic mutations of calreticulin in myeloproliferative neoplasms / N Engl J Med 369 : 2379 ~ 2390
Kralovics R / 2005 / A gain-of-function mutation of JAK2 in myeloproliferative disorders / N Engl J Med 352 : 1779 ~ 1790
Li B / 2014 / Calreticulin mutations in Chinese with primary myelofibrosis / Haematologica
Lundberg P / 2014 / Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms / Blood 123 : 2220 ~ 2228
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