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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
- 2020.1
- 수록면
- 1 - 5 (5page)
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Philadelphia-negative (Ph−) classical myeloproliferative neoplasms (MPNs) include polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis. Somatic driver mutations in the JAK2, CALR, and MPL genes serve as major diagnostic criteria of the Ph− MPNs and these mutations occur in a mutually exclusive manner. In this report, we describe the first case of ET harboring double mutations in JAK2 V617F and MPL. For MPL, the patient had multiple clones of MPL mutations: c.1543_1546delinsAGGG (p.Trp515_ Gln516delinsArgGlu) and c.1546C>G (p.Gln516Glu). The JAK2 V617F allele burden in our patient is very low (4%) compared to the relatively high (17%–78%) allele frequency of MPL mutations. The low JAK2 mutant burden might be explained by preexisting clonal hematopoiesis before overt signs of MPNs, followed by the acquisition of a second oncogenic mutation of CALR or MPL leading to the MPN phenotype. This highlights that screening for a second driver mutation should be considered in patients with a low JAK2 mutant burden by reporting a 57-year-old Korean man with ET.
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참고문헌 (13)
참고문헌 신청
Swerdlow SH / 2017 / WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues / IARC
임유주 / 2016 / Incidence, Survival and Prevalence Statistics of Classical Myeloproliferative Neoplasm in Korea / Journal of Korean Medical Science 31(10):1579~1585
Vainchenker W / 2017 / Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms / Blood 129(6):667~679
Mansier O / 2018 / Clinical and biological characterization of MPN patients harboring two driver mutations, a French intergroup of myeloproliferative neoplasms(FIM)study / Am J Hematol 93(4):E84~E86
De Roeck L / 2018 / Coexisting driver mutations in MPN : clinical and molecular characteristics of a series of 11 patients / Hematology 23(10):785~792
임유주 / 2016 / Incidence, Survival and Prevalence Statistics of Classical Myeloproliferative Neoplasm in Korea / Journal of Korean Medical Science 31(10):1579~1585
Vainchenker W / 2017 / Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms / Blood 129(6):667~679
Mansier O / 2018 / Clinical and biological characterization of MPN patients harboring two driver mutations, a French intergroup of myeloproliferative neoplasms(FIM)study / Am J Hematol 93(4):E84~E86
De Roeck L / 2018 / Coexisting driver mutations in MPN : clinical and molecular characteristics of a series of 11 patients / Hematology 23(10):785~792
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