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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.

참고문헌 (23)

  1. Li MM, "Standards and guidelines for the interpretation and reporting of sequence variants in cancer : a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists", J Mol Diagn, 19, pp.4~23 (2017)
  2. Li MM, "Assessments of somatic variant classification using the Association for Molecular Pathology", American Society of Clinical Oncology, J Mol Diagn, pp.2023, 25[DOI]
  3. Mateo J, "A framework to rank genomic alterations as targets for cancer precision medicine : the ESMO scale for clinical actionability of molecular targets(ESCAT)", Ann Oncol, 29, pp.1895~1902 (2018)
  4. Griffith M, "CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer", Nat Genet, 49, pp.170~174 (2017)
  5. Chakravarty D, "OncoKB : a precision oncology knowledge base", JCO Precis Oncol, 1, pp.1~16 (2017)
  6. Wagner AH, "A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer", Nat Genet, 52, pp.448~457 (2020)
  7. Horak P, "Standards for the classification of pathogenicity of somatic variants in cancer(oncogenicity) : joint recommendations of Clinical Genome Resource(ClinGen), Cancer Genomics Consortium(CGC), and Variant Interpretation for Cancer Consortium(VICC)", Genet Med, 24, pp.986~998 (2022)
  8. Froyen G, "Standardization of somatic variant classifications in solid and haematological tumours by a two-level approach of biological and clinical classes : an initiative of the Belgian ComPerMed expert panel", Cancers(Basel), 11, pp.2030~ (2019)
  9. Palomo L, "Spanish guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia", Br J Haematol, 188, pp.605~622 (2020)
  10. Kim J, "Status of nextgeneration sequencing-based genetic diagnosis in hematologic malignancies in Korea(2017-2018)", Lab Med Online, 11, pp.25~31 (2021)
  11. Chen S, "A genomic mutational constraint map using variation in 76, 156 human genomes", Nature, 625, pp.92~100 (2024)
  12. Lek M, "Analysis of protein-coding genetic variation in 60, 706 humans", Nature, 536, pp.285~291 (2016)
  13. Auton A, "A global reference for human genetic variation", Nature, 526, pp.68~74 (2015)
  14. Jung KS, "KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing", Database (Oxford), 2020, pp.baz146~ (2020)
  15. McLeod C, "St. Jude Cloud : a pediatric cancer genomic data-sharing ecosystem", Cancer Discov, 11, pp.1082~1099 (2021)
  16. Bamford S, "The COSMIC(catalogue of somatic mutations in cancer)database and website", Br J Cancer, 91, pp.355~358 (2004)
  17. Khoury JD, "The 5th edition of the World Health Organization classification of haematolymphoid tumours : myeloid and histiocytic", dendritic neoplasms, 2022, pp.36, 1703~1719
  18. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~423 (2015)
  19. Sukhai MA, "A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer", Genet Med, 18, pp.128~136 (2016)
  20. Döhner H, "Diagnosis and management of AML in adults : 2022 recommendations from an international expert panel on behalf of the ELN", Blood, 140, pp.1345~1377 (2022)
  21. Wang L, "ASXL1 promotes adrenocortical carcinoma and is associated with chemoresistance to EDP regimen", Aging(Albany NY), 13, pp.22286~22297 (2021)
  22. Fujino T, "ASXL1 mutation in clonal hematopoiesis", Exp Hematol, 83, pp.74~84 (2020)
  23. Wakita S, "Prognostic impact of CEBPA bZIP domain mutation in acute myeloid leukemia", Blood Adv, 6, pp.238~247 (2022)

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