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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
- 발행일
- 2024-10
- 권
- 14
- 호
- 4
- 페이지
- 297 ~ 310
- 언어
- KOR
- 출판사
- 대한진단검사의학회
- 발행국가
- 대한민국
- 분량
- 14 페이지
- ISSN
- E 2093-6338