BCR::ABL1 정량 검사의 국내 현황 조사(2022)
Current Status of BCR::ABL1 Quantitative PCR Analysis in Korea (2022)
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배경: BCR::ABL1 정량 PCR 검사는 만성골수백혈병 환자의 치료 후 추적 관찰에 가장 적합한 검사이며 정확한 분자유전학적 반응 판정을 위해 검사기관 간 표준화가 필요하다. 본 연구에서는 국내 BCR::ABL1 정량 PCR 검사의 현황 파악 및 표준화를 위한 온라인 설문조사를 시행하였다. 방법: 대학병원, 3차 의료기관 및 전문 수탁검사기관 분자유전검사 책임전문의에게 전자 메일을 통한 설문을 시행하였다. 설문 문항은 BCR::ABL1 정량 PCR 검사방법(8문항), 결과보고(6문항), 최소검출한계 및 최소정량한계 설정(7문항) 및 내·외부 정도관리 방법(2문항)에 대한 질문을 포함하였다. 결과: 15개 기관의 회신을 받았다. 설문조사 결과 모든 기관에서 상품화된 키트를 이용한 실시간 PCR법으로 시행하고 있었다. 모든 기관에서 ABL1 유전자를 참고유전자로 이용하고 깊은 분자유전학적 반응 판정에 요구되는 10,000 이상의 ABL1 유전자 복제수 범위를 가지고 있었다. 대부분의 기관이 깊은 분자유전학적 반응 판정에 적합한 검사실 자체 검출 한계를 설정하고 있었다. 검사기관별 결과보고방식 및 내부 및 외부정도관리 방법이 다양하였다. 결론: 설문조사를 통해 국내 검사기관들이 표준화된 검사방법을 시행하고 있는 것을 확인하였으나 결과의 정확성 및 민감도를 높일 수 있는 검출한계 검증 및 적절한 내부 및 외부정도관리 시행이 필요하겠다. 검사기관 간 검사결과보고의 일치도를 높이기 위한 표준화 및 가이드라인 정립이 필요하다.
Abstract
Background: BCR::ABL1 real-time quantitative PCR (RQ-PCR) is the optimal test for monitoring patients with chronic myeloid leukemia after treatment; however, standardization among testing institutions is required to assess molecular response. We performed an online survey to investigate the actual status and standardization of the BCR::ABL1 RQ-PCR test in Korea. Methods: The survey was provided by e-mail to the laboratory experts in molecular genetic testing at university hospitals, tertiary medical institutions, and specialized testing institutions. Questionnaires covered each institution’s BCR::ABL1 RQ-PCR test (eight questions), reporting format (six questions), verification of the lower limit of detection and quantitation (seven questions), and internal and external quality control (two questions). Results: Responses were received from 15 institutions. Every institution utilized RQ-PCR kits that were commercially available. All of them used the ABL1 gene as a reference gene and had a copy number range of at least 10,000, which is necessary for determining a deep molecular response (DMR). The majority of laboratories established their own laboratory detection limits suitable for determining a DMR. The reporting of results and internal and external quality control procedures differed by institution. Conclusions: The survey confirmed that testing institutions are implementing standardized RQ-PCR methods, but it is necessary to perform detection limit verification and internal and external quality control to improve the precision and sensitivity of the results. Standardization and guidelines are required to enhance the consistency of testing result reports across institutions.
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