Lab Med Online.  2021 Jan;11(1):40-46. 10.47429/lmo.2021.11.1.40.

Next-Generation Sequencing Myeloid Panel Test for Patients with AML and MDS: Experience in a Tertiary Care Hospital

• Mun SH
• Suh HS
• Jeon CH
• Lee AJ
• Yoo EH
• Kim SG

• KMID: 2525779
• DOI: http://doi.org/10.47429/lmo.2021.11.1.40

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 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.

Keyword

Next-generation sequencing (NGS); Acute myeloid leukemia (AML); Myelodysplastic syndrome (MDS)

Figure

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  Fig. 1 Number of mutations per patient detected using the NGS myeloid panel test. Data include those for 20 patients with AML and 12 patients with MDS.

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  Fig. 2 Mutation status matrix. 87 detectable mutations are represented by colored boxes (green, orange, and black for tiers 1, 2, and 3 mutations, respectively). (A) Includes 20 patients with AML. (B) Includes 12 patients with MDS.

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