혈액암 체세포 변이의 해석과 보고에 대한 권고안

Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies
  • Yoon Jung; 
  • Park Min-Seung; 
  • Kim Boram; 
  • Lee JaeJoon; 
  • Kim Hyun-Young

초록

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.

키워드

Hematologic malignancy; Somatic variants; Oncogenicity; Pathogenicity; Clinical actionability; Interpretation
제목
혈액암 체세포 변이의 해석과 보고에 대한 권고안
제목 (타언어)
Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies
저자
Yoon Jung; Park Min-Seung; Kim Boram; Lee JaeJoon; Kim Hyun-Young
DOI
10.47429/lmo.2024.14.4.297
발행일
2024-10
저널명
Laboratory Medicine Online
권
14
호
4
페이지
297 ~ 310