갑상선 미세침흡인세포검사 슬라이드에서 BRAF Mutation 검출을 통한 갑상선 유두암의 진단

윤여규; 박원서; 이규언; 송정윤; 정유승; 김훈엽; 고석환

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자료유형: 학술저널

저자정보: 윤여규 박원서 이규언 송정윤 정유승 김훈엽 고석환

저널정보: 대한갑상선-내분비외과학회 The Journal of Endocrine Surgery The Journal of Endocrine Surgery 제10권 제1호

발행연도: 2010.1

수록면: 12 - 18 (7page)

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Purpose: The prevalence rate of the BRAF mutation in papillary thyroid cancer (PTC) is as high as about 52 to 83% in Korea. Preoperative detection of BRAF mutation on fine needle aspiration cytology (FNAC) slides may help the surgeon make better therapeutic decisions. The present study aims to assess the feasibility of the mutant allele specific amplification (MASA) and restriction fragment length polymorphism (RFLP) method with using conventional FNAC slides and we also wanted to evaluate the clinical role of preoperatively detecting BRAF mutation. Methods: We extracted the genomic DNA from 59 FNAC slides and performed direct sequencing (DS) for detecting BRAF mutation. We could use only 17 slides for the MASA method and 6 slides for the RFLP method due to the shortage of extracted DNA. Additionally, we retrospectively analyzed the cases for which a histological diagnosis could be made. Results: Genomic DNA was extracted from 23 out of the 59 FNAC slides. The BRAF mutation status could be assessed via DS in 33 out of the 59 FNAC slides. The concordance between the MASA method and DS and the RFLP method and DS was 36.3% and 66.7% respectively. The positive and negative predictive value of the 13 indeterminate nodules was 87.5% and 20%, respectively. We could not find any association between the BRAF mutations and the alleged risk factors of PTC. Conclusion: We believe that the purity and the amount of the DNA template must be increased to detect BRAF mutation with using a FNAC slide. Preoperative detection of the BRAF mutation on a FNAC slide may refine the cytological diagnosis, but the application of assessing BRAF mutation as a prognostic marker is debatable. (Korean J Endocrine Surg 2010;10:12-18)

#갑상선 유두암 #BRAF 돌연변이 #미세침흡인세포검사 #Papillary thyroid cancer #BRAF mutation #Fine needle aspiration cytology

참고문헌 (25)

참고문헌 신청

Chow LS / 2001 / Nondiagnostic thyroid fine-needle aspiration cytology: management dilemmas / Thyroid 11 : 1147 ~ 1151

Chung KW / 2006 / Detection of BRAFV600E mutation on fine needle aspiration specimens / Clin Endocrinol (Oxf) 65 : 660 ~ 666

Cohen Y / 2003 / BRAF mutation in papillary thyroid carcinoma / J Natl Cancer Inst 95 : 625 ~ 627

Davies H / 2002 / Mutations of the BRAF gene in human cancer / Nature 417 : 949 ~ 954

Garnett MJ / 2004 / Guilty as charged: B-RAF is a human oncogene Cancer / Cell 6 : 313 ~ 319

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