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KMID : 1100820210110010040
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Laboratory Medicine Online
2021 Volume.11 No. 1 p.40 ~ p.46
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Next-Generation Sequencing Myeloid Panel Test for Patients with AML and MDS: Experience in a Tertiary Care Hospital
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Mun Seon-Ho
Suh Hun-Suk
Jeon Chang-Ho
Lee A-Jin
Yoo Eun-Hyung
Kim Sang-Gyung
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Abstract
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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 frequently 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 profiles 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.
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KEYWORD
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Next-generation sequencing (NGS), Acute myeloid leukemia (AML), Myelodysplastic syndrome (MDS)
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