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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
- 882 - 888 (7page)
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Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF to determine the prevalence, and clinical and laboratory correlations of CALR/JAK2/MPL mutations. Among 84 ET patients, CALR mutations were detected in 23 (27.4%) and were associated with higher platelet counts (P = 0.006) and lower leukocyte counts (P = 0.035) than the JAK2 V617F mutation. Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P = 0.035) and trended to a lower rate of cytogenetic abnormalities (P = 0.059) than the JAK2 V617F mutation. By multivariate analysis, triple-negative status was associated with shorter overall survival (HR, 7.0; 95% CI, 1.6-31.1, P = 0.01) and leukemia-free survival (HR, 6.3; 95% CI, 1.8-22.0, P = 0.004) in patients with PMF. The type 1 mutation was the most common (61.1%) type among all patients with CALR mutations, and tended toward statistical predominance in PMF patients. All 3 mutations were mutually exclusive and were never detected in patients with other myeloid neoplasms showing thrombocytosis. CALR mutations characterize a distinct group of Korean ET and PMF patients. Triple-negative PMF patients in particular have an unfavorable prognosis, which supports the idea that triple-negative PMF is a molecularly high-risk disease.
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참고문헌 (22)
참고문헌 신청
Klampfl T / 2013 / Somatic mutations of calreticulin in myeloproliferative neoplasms / N Engl J Med 369:2379~2390
Nangalia J / 2013 / Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2 / N Engl J Med 369:2391~2405
Rumi E / 2014 / JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes / Blood 123:1544~1551
Rotunno G / 2014 / Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia / Blood 123:1552~1555
Tefferi A / 2014 / CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons / Leukemia 28:1472~1477
Nangalia J / 2013 / Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2 / N Engl J Med 369:2391~2405
Rumi E / 2014 / JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes / Blood 123:1544~1551
Rotunno G / 2014 / Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia / Blood 123:1552~1555
Tefferi A / 2014 / CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons / Leukemia 28:1472~1477
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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
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