Genetic alterations in 47 patients with a novel myelodysplastic syndrome diagnosis at a single center

At least one mutation is present in 70-80% of patients with myelodysplastic syndrome (MDS). Genetic alterations and other molecular biological markers have been included in the diagnostic and treatment guidelines for MDS. The aim of the present study was to analyze the association between genetic al...

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Bibliographic Details
Published in:Oncology letters 2019-11, Vol.18 (5), p.5077-5084
Main Authors: Zhao, Pan, Qin, Jiayue, Liu, Weiyi, Quan, Richeng, Xiao, Haiyan, Liu, Chi, Li, Liu, Lv, Yan, Zhu, Qianze, Wang, Hongzhi, Guo, Xiaoqing, Wang, Juan, Hu, Xiaomei
Format: Article
Language:English
Subjects:
Analysis
Anemia
Biological markers
Biotechnology industries
Blood
Bone marrow
Care and treatment
Chromosomes
Classification
Deoxyribonucleic acid
DNA
DNA methylation
Gene mutation
Genes
Genomes
Hemoglobin
Kinases
Leukemia
Library collections
Medical diagnosis
Medical research
Mutation
Myelodysplastic syndromes
Neutrophils
Novels
Oncology
Pathogenesis
Patients
Protein binding
RNA
Software
Transferases
Tumor proteins
Tumors
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Summary:At least one mutation is present in 70-80% of patients with myelodysplastic syndrome (MDS). Genetic alterations and other molecular biological markers have been included in the diagnostic and treatment guidelines for MDS. The aim of the present study was to analyze the association between genetic alterations and clinicopathological features among 47 Chinese patients with a novel diagnosis of MDS using a next-generation sequencing approach. The results indicated that from the 47 patients, 66.0% had genetic alterations. Furthermore, seven genes, U2 small nuclear RNA auxiliary factor 1 (23.4%), splicing factor 3b subunit (12.8%), ASXL transcriptional regulator 1 (10.6%), tet methylcytosine dioxygenase 2 (8.5%), BCL6 corepressor (8.5%), TP53 (8.5%) and DNA methyltransferase 3[alpha] (6.4%), indicated a higher prevalence of alterations in >5% of patients. Among the 16 (51.6%) patients with [greater than or equal to]2 mutations, 12 (75%) had mutations in different genetic functional groups. Variant allele frequencies in signaling pathways were generally low, suggesting that mutations in the corresponding genes were acquired relatively late during the evolution of the leukemic clones. The mutation prevalence rates of Janus kinase 2 and SH2B adaptor protein 3 were significantly higher in the MDS unclassified group and in the very high-risk groups with a karyotype as a prognostic indicator, respectively (both P
ISSN:1792-1074
1792-1082
DOI:10.3892/ol.2019.10853