혈액암 체세포 변이의 해석과 보고에 대한 권고안
Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies
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초록
혈액암, 특히 골수성종양에서 차세대염기분석검사가 필수 임상검사로 자리 매김함으로써 다양하게 검출되는 변이 중 임상적으로의미있는 변이를 확인하는 일은 점점 중요해지고 있다. 본 연구에서는 혈액암에서 관찰되는 체세포 변이의 해석을 위하여 다양한가이드라인을 검토하여 변이의 발암성과 임상적 적용가능성 측면에서 각각의 분류 지침 및 변이의 보고지침을 제시하고 혈액암 변이 해석에 대한 국내 현황을 확인하였다. 본 지침이 국내 혈액암 체세포 변이의 해석 및 보고의 표준화를 위한 기반이 되었으면 한다.
Abstract
Next-generation sequencing has become an essential clinical test for hematologic malignancies, especially myeloid neoplasms, making the identification of clinically significant variants increasingly important. In this review, we discuss various guidelines for the interpretation of somatic variants observed in hematologic malignancies, presenting classification criteria and reporting guidelines for each variant based on oncogenicity and clinical actionability. Additionally, we examine the status of variant interpretation in hematologic malignancies in Korea. We aim for these recommendations to serve as a foundation for the standardization of somatic variant interpretation and reporting in hematologic malignancies in Korea.
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