Korean Journal of Clinical Laboratory Science (대한임상검사과학회지)

Korean Society for Clinical Laboratory Science (대한임상검사과학회)
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An Analytical Validation of the GenesWellTM BCT Multigene Prognostic Test in Patients with Early Breast Cancer

조기 유방암 환자를 위한 다지표 예후 예측 검사 GenesWellTM BCT의 분석적 성능 시험

  • 김지은 ((주)젠큐릭스, 기업부설연구소) ;
  • 강병일 ((주)젠큐릭스, 기업부설연구소) ;
  • 배승민 ((주)젠큐릭스, 기업부설연구소) ;
  • 한새봄 ((주)젠큐릭스, 기업부설연구소) ;
  • 전아름 ((주)젠큐릭스, 기업부설연구소) ;
  • 한진일 ((주)젠큐릭스, 기업부설연구소) ;
  • 조민아 ((주)젠큐릭스, 기업부설연구소) ;
  • 최윤라 (성균관대학교 의과대학 삼성서울병원 병리학교실) ;
  • 이종흔 ((주)젠큐릭스, 기업부설연구소) ;
  • 문영호 ((주)젠큐릭스, 기업부설연구소)
  • Received : 2017.02.10
  • Accepted : 2017.03.28
  • Published : 2017.06.30
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Abstract

GenesWell$^{TM}$ BCT is a 12-gene test suggesting the prognostic risk score (BCT Score) for distant metastasis within the first 10 years in early breast cancer patients with hormone receptor-positive, HER2-negative, and pN0~1 tumors. In this study, we validated the analytical performance of GenesWell$^{TM}$ BCT. Gene expression values were measured by a one-step, real-time qPCR, using RNA extracted from FFPE specimens of early breast cancer patients. Limit of Blank, Limit of Detection, and dynamic range for each of the 12 genes were assessed by serially diluted RNA pools. The analytical precision and specificity were evaluated by three different RNA samples representing low risk group, high risk group, and near-cutoff group in accordance with their BCT Scores. GenesWell$^{TM}$ BCT could detect gene expression of each of the 12 genes from less than $1ng/{\mu}L$ of RNA. Repeatability and reproducibility across multiple testing sites resulted in 100% and 98.3% consistencies of risk classification, respectively. Moreover, it was confirmed that the potential interference substances does not affect the risk classification of the test. The findings demonstrate that GenesWell$^{TM}$ BCT have high analytical performance with over 95% consistency for risk classification.

GenesWell$^{TM}$ BCT는 호르몬 수용체 양성, HER2 음성, 및 pN0 또는 1인 조기 유방암 환자의 10년내 타 장기 전이 재발 위험도를 제시하는 다지표 예후 예측 검사로, 예후에 대한 위험을 BCT Score로 제시한다. 본 연구에서는 GenesWell$^{TM}$ BCT의 분석적 성능을 검사하였다. 조기 유방암 환자의 FFPE 검체로 부터 추출한 RNA를 대상으로 GenesWell$^{TM}$ BCT 수행하여, 12개 유전자의 발현값을 측정하였다. GenesWell$^{TM}$ BCT의 최소검출한계, 공란 한계 및 측정 범위는 단계 희석한 RNA 검체를 사용하여 평가하였으며, 분석적 정밀도 및 특이도 시험은 BCT Score에 따라 저위험군, 고위험군 그리고 경계선 주변으로 나누어진 3개의 RNA 검체를 이용하여 시험하였다. GenesWell$^{TM}$ BCT는 $1ng/{\mu}L$ 미만의 RNA 검체에서 RNA를 측정할 수 있었으며, 다기관에서 수행된 분석적 정밀도 시험에서 반복성 100% 및 재현성 98.3%의 결과를 확인할 수 있었다. 또한, 분석적 특이도 시험을 통해, 간섭 물질이 검체의 재발 위험성 판정에 영향을 미치지 않음을 확인할 수 있었다. 이들 결과는 GenesWell$^{TM}$ BCT가 95% 이상의 항상성을 나타내는 높은 분석적 성능을 가지고 있음을 제시한다.

Keywords

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