Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing

Monika Adamska; Ewelina Kowal-Wiśniewska; Joanna Czerwińska-Rybak; Katarzyna Kiwerska; Marta Barańska; Weronika Gronowska; Jagoda Loba; Katarzyna Brzeźniakiewicz-Janus; Ewa Wasilewska; Aleksandra Łanocha; Małgorzata Jarmuż-Szymczak; Lidia Gil

doi:10.5114/wo.2023.135365

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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4/2023
vol. 27

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abstract:

Original paper

Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing

Monika Adamska

^{1, 2}

,

Ewelina Kowal-Wiśniewska

^{1, 3}

,

Joanna Czerwińska-Rybak

¹

,

Katarzyna Kiwerska

³

,

Marta Barańska

²

,

Weronika Gronowska

⁴

,

Jagoda Loba

⁴

,

Katarzyna Brzeźniakiewicz-Janus

⁵

,

Ewa Wasilewska

⁶

,

Aleksandra Łanocha

⁷

,

Małgorzata Jarmuż-Szymczak

^{1, 3}

,

Lidia Gil

¹

Department of Haematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland

Doctoral School, Poznań University of Medical Sciences, Poznań, Poland

Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland

Student Scientific Society, Poznań University of Medical Sciences, Poznań, Poland

Department of Haematology, Oncology, and Radiotherapy, University of Zielona Góra, Multi-specialist Hospital Gorzów Wielkopolski, Poland

Department of Haematology, Medical University of Białystok, Białystok, Poland

Department of Haematology with Bone Marrow Transplantation Unit, University Hospital No. 1 of Pomeranian Medical University, Szczecin, Poland

Contemp Oncol (Pozn) 2023; 27 (4): 269–276

DOI: https://doi.org/10.5114/wo.2023.135365

Online publish date: 2024/02/17

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AMA

Adamska M, Kowal-Wiśniewska E, Czerwińska-Rybak J, et al. Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing. Contemporary Oncology/Współczesna Onkologia. 2023;27(4):269-279. doi:10.5114/wo.2023.135365.

APA

Adamska, M., Kowal-Wiśniewska, E., Czerwińska-Rybak, J., Kiwerska, K., Barańska, M.,  & Gronowska, W. et al. (2023). Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing. Contemporary Oncology/Współczesna Onkologia, 27(4), 269-279. https://doi.org/10.5114/wo.2023.135365

Chicago

Adamska, Monika, Ewelina Kowal-Wiśniewska, Joanna Czerwińska-Rybak, Katarzyna Kiwerska, Marta Barańska, Weronika Gronowska,  and Jagoda Loba et al. 2023. "Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing". Contemporary Oncology/Współczesna Onkologia 27 (4): 269-279. doi:10.5114/wo.2023.135365.

Harvard

Adamska, M., Kowal-Wiśniewska, E., Czerwińska-Rybak, J., Kiwerska, K., Barańska, M., Gronowska, W., Loba, J., Brzeźniakiewicz-Janus, K., Wasilewska, E., Łanocha, A., Jarmuż-Szymczak, M.,  and Gil, L. (2023). Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing. Contemporary Oncology/Współczesna Onkologia, 27(4), pp.269-279. https://doi.org/10.5114/wo.2023.135365

MLA

Adamska, Monika et al. "Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing." Contemporary Oncology/Współczesna Onkologia, vol. 27, no. 4, 2023, pp. 269-279. doi:10.5114/wo.2023.135365.

Vancouver

Adamska M, Kowal-Wiśniewska E, Czerwińska-Rybak J, Kiwerska K, Barańska M, Gronowska W et al. Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing. Contemporary Oncology/Współczesna Onkologia. 2023;27(4):269-279. doi:10.5114/wo.2023.135365.

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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

keywords:

NGS, pyrosequencing, allogenic hematopoietic cell transplantation, lower-risk myelodysplastic neoplasms, acute myeloid leukaemia myelodysplasia-related

Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing

Monika Adamska 1, 2 , Ewelina Kowal-Wiśniewska 1, 3 , Joanna Czerwińska-Rybak 1 , Katarzyna Kiwerska 3 , Marta Barańska 2 , Weronika Gronowska 4 , Jagoda Loba 4 , Katarzyna Brzeźniakiewicz-Janus 5 , Ewa Wasilewska 6 , Aleksandra Łanocha 7 , Małgorzata Jarmuż-Szymczak 1, 3 , Lidia Gil 1

NGS, pyrosequencing, allogenic he­matopoietic cell transplantation, lower-risk myelodysplastic neoplasms, acute myeloid leukaemia myelodysplasia-related

NGS, pyrosequencing, allogenic hematopoietic cell transplantation, lower-risk myelodysplastic neoplasms, acute myeloid leukaemia myelodysplasia-related