Gene mutation spectrum of patients with myelodysplastic syndrome and progression to acute myeloid leukemia

Ming Liu; Fang Wang; Yang Zhang; Xue Chen; Panxiang Cao; Daijing Nie; Jiancheng Fang; Mingyu Wang; Mingyue Liu; Hongxing Liu

doi:10.2217/ijh-2021-0002

Gene mutation spectrum of patients with myelodysplastic syndrome and progression to acute myeloid leukemia

Int J Hematol Oncol. 2021 Jun 22;10(2):IJH34. doi: 10.2217/ijh-2021-0002. eCollection 2021 Jun.

Authors

Ming Liu¹, Fang Wang¹, Yang Zhang¹, Xue Chen¹, Panxiang Cao¹, Daijing Nie¹, Jiancheng Fang¹, Mingyu Wang¹, Mingyue Liu¹, Hongxing Liu^{1

2

3}

Affiliations

¹ Division of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang 065201, China.
² Division of Pathology & Laboratory Medicine, Beijing Lu Daopei Hospital, Beijing 100176, China.
³ Beijing Lu Daopei Institute of Hematology, Beijing 100176, China.

Abstract

Aim: This study aimed to investigate the regularity of gene mutations in patients with myelodysplastic syndrome (MDS) and in those that progressed to acute myeloid leukemia (MDS/AML).

Patients & methods: High-throughput sequencing technology was used to detect gene mutations in 99 newly diagnosed patients with MDS or MDS/AML.

Results: Gene mutations were detected in 88 patients. The mutation incidence in the MDS/AML group was significantly higher than that in the MDS group. Statistically significant differences were observed between the MDS with refractory anemia (MDS-RA) and MDS-RA with excess blasts groups and between the MDS/AML and MDS-RA groups.

Conclusion: Our data demonstrate that there is a cumulative accumulation of gene mutations, especially in transcription factor genes, during disease progression in MDS and MDS/AML.

Keywords: FLT3; U2AF1; acute myeloid leukemia; chromosome; epigenetics; gene mutation; myelodysplastic syndrome; next generation sequencing; signal transduction gene; splicing factor gene.