급성골수성백혈병과 골수이형성증후군 환자를 대상으로 한 NGS 골수성 패널 검사: 단일 상급종합병원에서의 경험 = Next-Generation Sequencing Myeloid Panel Test for Patients with AML and MDS: Experience in a Tertiary Care Hospital

다국어 초록 (Multilingual Abstract)

Background: Next-generation sequencing (NGS) technology can be used for detecting gene mutations in various patients. The NGS myeloid panel test can be specifically used for patients with a myeloid neoplasm. In this study, the NGS myeloid panel test was used for patients with AML and MDS, and the results are summarized and reported retrospectively.
Methods: Thirty-two NGS myeloid panel test results were reviewed retrospectively. Oncomine Myeloid Research Assay (Thermo Fisher Scientific, USA) and Ion Torrent S5 XL (Thermo Fisher Scientific) were used for sequencing, and variant annotation was performed using Ion Reporter Software (Thermo Fisher Scientific). Filtered variants were classified into tiers 1, 2, and 3, according to the Association for Molecular Pathology guidelines. Results: Eighty-seven variants were detected from 32 cases, and 30 cases (94%) had at least 1 variant classified into tier 1 or 2. The most fre quently detected mutated gene in patients with AML was DNMT3A (N = 8) and that in patients with MDS was U2AF1 (N = 4). Gene mutations were not detected in patients with MDS with single lineage dysplasia.
Conclusions: Clinically useful genetic mutations were found in patients with AML and MDS through an NGS myeloid panel test. Although there are limitations to this study due to the small number of cases, some differences were found between the results of this study and the genetic pro files of AML patients in other studies. Further evaluation of the genetic profile of myeloid neoplasm is needed, and the NGS myeloid panel test can be useful for this

국문 초록 (Abstract)

배경: 차세대 염기서열 분석법(NGS)은 최근에 다양한 환자들을 대상으로 유전자 변이를 검출하는데 사용되며, NGS 골수성 패널 검사는 골수 종양 질환을 가진 환자들에 특이적이다. 본 연구에서는 NGS 골수성 패널 검사를 급성골수성백혈병(AML) 및 골수이형성증후군(MDS) 환자들을 대상으로 활용하고 나온 결과들을 후향적으로 정리하여 보고하고자 한다.
방법: 총 32명 환자의 NGS 골수성 패널 검사 결과를 후향적으로 검토하였다. Oncomine Myeloid Research Assay (Thermo Fisher Scientific, USA)와 Ion Torrent S5 XL (Thermo Fisher Scientific)이 염기서열 분석에 사용되었고, 변이에 대한 주석을 다는 과정은 Ion Reporter Software (Thermo Fisher Scientific)로 시행하였다. 필터 링을 거친 각 변이들은 Association for Molecular Pathology에서 정한 가이드라인에 따라 Tier 1, 2 그리고 3으로 분류하였다.
결과: 32명 환자에서 총 87개의 변이가 확인되었고, 30명(91%)의 환자에서 Tier 1 혹은 2로 분류되는 변이가 최소 1개 이상 발견되 었다. AML 환자에서 가장 빈번하게 나타난 변이된 유전자는 DNMT3A (N=8)였고, MDS 환자에서는 U2AF1 (N=4)의 변이가 가장 빈번하게 나타났다. MDS with single lineage dysplasia 환자에서는 변이가 검출되지 않았다.
결론: NGS 골수성 패널 검사를 통해 AML과 MDS 환자에서 임상 적으로 유용한 유전자 변이들이 발견되었다. 비록 적은 증례 수로 인한 한계는 있지만, 본 연구에서 나온 결과와 타 연구들에서 나타 난 AML 환자의 유전적 프로파일에 일부 차이가 나타났다. 골수 종 양 질환의 유전적 프로파일에 대한 추가 연구가 필요하며, 이를 위 해 NGS 골수성 패널 검사가 도움이 될 것으로 판단된다.

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