Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies

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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Publication Details

Journal
Laboratory Medicine Online
Published
2024-09-26
DOI
https://doi.org/10.47429/lmo.2024.14.4.297
Primary Topic
Childhood Cancer Survivors' Quality of Life
Type
article
Field-Weighted Citation Impact
0.00

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Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies

Jung‐Hwan Yoon, Min‐Seung Park, Boram Kim, Hyun‐Young Kim et al.
Laboratory Medicine Online
Childhood Cancer Survivors' Quality of Life
article

Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies

Jung‐Hwan Yoon, Min‐Seung Park, Boram Kim, Hyun‐Young Kim, Jae‐Joon Lee
article en

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.

Laboratory Medicine OnlineVol. 14(4)
Korea University Medical Center (KR), Samsung Medical Center (KR), Kangbuk Samsung Hospital (KR), Sungkyunkwan University (KR)
American Society of Clinical Oncology
Good health and well-being
Openalex Percentile: Top 74%
Childhood Cancer Survivors' Quality of Life
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