KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

Yonggoo Kim; Sung-Soo Park; Chang Ki Min; Gun Dong Lee; Jungok Son; Sung Jin Jo; Eunhee Han; Kyungja Han; Myungshin Kim

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저자정보: Yonggoo Kim (Seoul St. Mary’s Hospital) Sung-Soo Park (The Catholic University of Korea) Chang Ki Min (The Catholic University of Korea) Gun Dong Lee (Seoul St. Mary’s Hospital) Jungok Son (Seoul St. Mary’s Hospital) Sung Jin Jo (Seoul St. Mary’s Hospital) Eunhee Han (Seoul St. Mary’s Hospital) Kyungja Han (Seoul St. Mary’s Hospital) Myungshin Kim (Seoul St. Mary’s Hospital)

저널정보: 대한혈액학회 Blood Research Blood Research Vol.55 No.3

발행연도: 2020.1

수록면: 159 - 168 (10page)

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BackgroundPlasma cell myeloma (PCM) is a genetically heterogeneous disease. The genetic spectrum of PCM has been expanded to mutations such as KRAS, NRAS, and BRAF genes in the RAS-RAF-MAPK pathway. In this study, we have evaluated the frequency of these muta-tions and their significance, including baseline characteristics and clinical outcomes.MethodsWe explored 50 patients who were newly diagnosed with PCM between 2009 and 2012 at a single Korean institute. Clinical and laboratory parameters were gathered through careful review of medical records. Mutation analysis was carried out using DNA from the bone marrow at the time of diagnosis. Pyrosequencing was performed to detect KRAS G12V, KRAS G13D, and NRAS G61R. BRAF V600E was analyzed by allele-specific re-al-time PCR. Comparison of clinical and laboratory parameters was carried out according to those mutations.ResultsWe identified 14 patients (28%) with activating mutations in the RAS-RAF-MAPK pathway (RAS/RAF mutations): KRAS (N=3), NRAS (N=4), BRAF (N=7), and both KRAS and BRAF (N=1). RAS/RAF mutations were more frequently observed in patients with complex kar-yotypes and showed poorer progression free survival (PFS). Specifically, the BRAF V600E mutation had a significantly negative impact on median PFS.ConclusionWe first showed the frequency of RAS/RAF mutations in Korean patients with PCM. Screening of these mutations could be considered as a routine clinical test at the time of diagnosis and follow-up due to their influence on clinical outcome, as well as its poten-tial as a therapeutic target.

#KRAS #NRAS #BRAF #Plasma cell myeloma

참고문헌 (35)

참고문헌 신청

Chng WJ / 2014 / IMWG consensus on risk stratification in multiple myeloma / Leukemia 28:269~277

Fonseca R / 2009 / International Myeloma Working Group molecular classification of multiple myeloma : spotlight review / Leukemia 23:2210~2221

Bolli N / 2014 / Heterogeneity of genomic evolution and mutational profiles in multiple myeloma / Nat Commun 5:2997

Chapman MA / 2011 / Initial genome sequencing and analysis of multiple myeloma / Nature 471:467~472

Smith D / 2015 / RAS mutation status and bortezomib therapy for relapsed multiple myeloma / Br J Haematol 169:905~908

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Yonggoo Kim

소속기관 The Catholic University of Korea Seoul Korea

주요연구분야 의약학 > 임상의학 > 임상병리학

논문수 4 이용수 1

Sung-Soo Park

소속기관 Department of Hematology Seoul St. Mary’s Hematology Hospital College of Medicine The Catholic University of Korea Seoul Korea

주요연구분야 의약학 > 임상의학 > 정신과학 의약학 > 임상의학 > 임상병리학

논문수 6 이용수 6

Chang Ki Min

소속기관 가톨릭대학교

주요연구분야 의약학 > 임상의학 > 임상병리학

논문수 1 이용수 1

Gun Dong Lee