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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학위논문
- 저자정보
- 지도교수
- 김상경
- 발행연도
- 2020
- 저작권
- 대구가톨릭대학교 논문은 저작권에 의해 보호받습니다.
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초록· 키워드
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Background; Next-generation sequencing (NGS) technology is used for detecting gene mutations of patients with hematologic malignancy. The NGS myeloid panel test is specific to detect gene mutations of patients with myeloid neoplasms. In this study, we evaluated clinical utility of NGS myeloid panel test and genetic profile of patients with acute myeloid leukemia(AML) and myelodysplastic syndrome(MDS).
Methods; A total of 32 NGS myeloid panel test results composed of 20 patients with AML and 12 patients with MDS were reviewed retrospectively. The Oncomine Myeloid Research Assay and Ion Torrent S5 XL were used for sequencing, and variant annotation was performed using Ion Reporter Software v5.10.1.0. Filtered variants were classified as Tier 1, 2, and 3 to determine the clinical usefulness, according to the Association for Molecular Pathology guidelines.
Results; A total of 87 variants were detected from 32 cases, and 29 cases(91%) have at least 1 variant classified as Tier 1 or Tier 2 variant. Frequently detected variants in patients with AML were DNMT3A (n=8), TET2 (n=7), IDH (n=5), NRAS (n=4), RUNX1 (n=4), and in patients with MDS were U2AF1 (n=4), ASXL1 (n=3), RUNX1 (n=3). Variants were not detected from 2 patients with MDS-SLD.
Conclusions; The NGS myeloid panel test provided clinically useful data for patients with AML and MDS. Genetic profile of patients with AML and that of patients with MDS was different in terms of functional category of genes although small number of sample in our study. Further evaluation of genetic profiles is needed, with more AML or MDS cases especially in Korean patients
Methods; A total of 32 NGS myeloid panel test results composed of 20 patients with AML and 12 patients with MDS were reviewed retrospectively. The Oncomine Myeloid Research Assay and Ion Torrent S5 XL were used for sequencing, and variant annotation was performed using Ion Reporter Software v5.10.1.0. Filtered variants were classified as Tier 1, 2, and 3 to determine the clinical usefulness, according to the Association for Molecular Pathology guidelines.
Results; A total of 87 variants were detected from 32 cases, and 29 cases(91%) have at least 1 variant classified as Tier 1 or Tier 2 variant. Frequently detected variants in patients with AML were DNMT3A (n=8), TET2 (n=7), IDH (n=5), NRAS (n=4), RUNX1 (n=4), and in patients with MDS were U2AF1 (n=4), ASXL1 (n=3), RUNX1 (n=3). Variants were not detected from 2 patients with MDS-SLD.
Conclusions; The NGS myeloid panel test provided clinically useful data for patients with AML and MDS. Genetic profile of patients with AML and that of patients with MDS was different in terms of functional category of genes although small number of sample in our study. Further evaluation of genetic profiles is needed, with more AML or MDS cases especially in Korean patients
목차
Ⅰ. 서 론 1Ⅱ. 연구 대상 및 방법 3Ⅲ. 결 과 5Ⅳ. 고 찰 10Ⅴ. 결 론 13Ⅵ. 참고문헌 14Ⅶ. 부 록 17
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