Work

Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies

Year: 2024

Type: article

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.

Source: Laboratory Medicine Online

DOI: 10.47429/lmo.2024.14.4.297

Authors: Jung Yoon, Min-Seung Park, Boram Kim, JaeJoon Lee, Hyun-Young Kim

Institutions: Korea University Guro Hospital, Kangbuk Samsung Hospital, Sungkyunkwan University, Samsung Medical Center

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funder: American Society of Clinical Oncology