Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing.
| Autor: | Adamska M; Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.; Doctoral School, Poznań University of Medical Sciences, Poznań, Poland., Kowal-Wiśniewska E; Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland., Czerwińska-Rybak J; Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland., Kiwerska K; Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland., Barańska M; Doctoral School, Poznań University of Medical Sciences, Poznań, Poland., Gronowska W; Student Scientific Society, Poznań University of Medical Sciences, Poznań, Poland., Loba J; Student Scientific Society, Poznań University of Medical Sciences, Poznań, Poland., Brzeźniakiewicz-Janus K; Department of Haematology, Oncology, and Radiotherapy, University of Zielona Góra, Multi-specialist Hospital Gorzów Wielkopolski, Poland., Wasilewska E; Department of Haematology, Medical University of Białystok, Białystok, Poland., Łanocha A; Department of Haematology with Bone Marrow Transplantation Unit, University Hospital No. 1 of Pomeranian Medical University, Szczecin, Poland., Jarmuż-Szymczak M; Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland., Gil L; Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland. |
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| Jazyk: | angličtina |
| Zdroj: | Contemporary oncology (Poznan, Poland) [Contemp Oncol (Pozn)] 2023; Vol. 27 (4), pp. 269-279. Date of Electronic Publication: 2024 Feb 17. |
| DOI: | 10.5114/wo.2023.135365 |
| Abstrakt: | Introduction: Lower-risk myelodysplastic neoplasms (LR-MDS) comprise the majority of MDS. Despite favourable prognoses, some patients remain at risk of rapid progression. We aimed to define the mutational profile of LR-MDS using next-generation sequencing (NGS), Sanger Sequencing (SSeq), and pyrosequencing. Material and Methods: Samples from 5 primary LR-MDS (67 exons of SF3B1, U2AF1, SRSF2, ZRSR2, TET2, ASXL1, DNMT3A, TP53 , and RUNX1 genes) were subjected to NGS. Next, a genomic study was performed to test for the presence of identified DNA sequence variants on a larger group of LR-MDS patients (25 bone marrow [BM], 3 saliva [SAL], and one peripheral blood [PB] sample/s). Both SSeq (all selected DNA sequence variants) and pyrosequencing (9 selected DNA sequence variants) were performed. Results: Next-generation sequencing results identified 13 DNA sequence variants in 7 genes, comprising 8 mutations in 6 genes ( ASXL1, DNMT3A, RUNX1, SF3B1, TET2, ZRSR2 ) in LR-MDS. The presence of 8 DNA variants was detected in the expanded LR-MDS group using SSeq and pyrosequencing. Mutation acquisition was observed during LR-MDS progression. Four LR-MDS and one acute myeloid leukaemia myelodysplasia-related patient exhibited the presence of at least one mutation. ASXL1 and SF3B1 alterations were most commonly observed (2 patients). Five DNA sequence variants detected in BM (patients: 9, 13) were also present in SAL. Conclusions: We suggest using NGS to determine the LR-MDS mutational profile at diagnosis and suspicion of disease progression. Moreover, PB and SAL molecular testing represent useful tools for monitoring LR-MDS at higher risk of progression. However, the results need to be confirmed in a larger group. Competing Interests: The authors declare no conflict of interest. (Copyright © 2023 Termedia.) |
| Databáze: | MEDLINE |
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