New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia

Monika Małgorzata Adamska; Ewelina Kowal-Wiśniewska; Katarzyna Kiwerska; Adam Ustaszewski; Joanna Czerwińska-Rybak; Zuzanna Kanduła; Marzena Wojtaszewska; Marta Barańska; Łukasz Pruchniewski; Krzysztof Lewandowski; Małgorzata Jarmuż-Szymczak; Lidia Gil

doi:10.5114/ceji.2021.111166

eISSN: 1644-4124
ISSN: 1426-3912

Central European Journal of Immunology

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abstract:

Case report

New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia

Monika Małgorzata Adamska

¹

,

Ewelina Kowal-Wiśniewska

^{1, 2}

,

Katarzyna Kiwerska

²

,

Adam Ustaszewski

²

,

Joanna Czerwińska-Rybak

¹

,

Zuzanna Kanduła

¹

,

Marzena Wojtaszewska

¹

,

Marta Barańska

¹

,

Łukasz Pruchniewski

¹

,

Krzysztof Lewandowski

¹

,

Małgorzata Jarmuż-Szymczak

^{1, 2}

,

Lidia Gil

¹

Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

(Cent Eur J Immunol 2021; 46 (4): 524-530)

DOI: https://doi.org/10.5114/ceji.2021.111166

Online publish date: 2021/12/12

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AMA

Adamska M, Kowal-Wiśniewska E, Kiwerska K, et al. New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia. Central European Journal of Immunology. 2021;46(4):524-530. doi:10.5114/ceji.2021.111166.

APA

Adamska, M., Kowal-Wiśniewska, E., Kiwerska, K., Ustaszewski, A., Czerwińska-Rybak, J.,  & Kanduła, Z. et al. (2021). New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia. Central European Journal of Immunology, 46(4), 524-530. https://doi.org/10.5114/ceji.2021.111166

Chicago

Adamska, Monika Małgorzata, Ewelina Kowal-Wiśniewska, Katarzyna Kiwerska, Adam Ustaszewski, Joanna Czerwińska-Rybak, Zuzanna Kanduła,  and Marzena Wojtaszewska et al. 2021. "New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia". Central European Journal of Immunology 46 (4): 524-530. doi:10.5114/ceji.2021.111166.

Harvard

Adamska, M., Kowal-Wiśniewska, E., Kiwerska, K., Ustaszewski, A., Czerwińska-Rybak, J., Kanduła, Z., Wojtaszewska, M., Barańska, M., Pruchniewski, Ł., Lewandowski, K., Jarmuż-Szymczak, M.,  and Gil, L. (2021). New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia. Central European Journal of Immunology, 46(4), pp.524-530. https://doi.org/10.5114/ceji.2021.111166

MLA

Adamska, Monika Małgorzata et al. "New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia." Central European Journal of Immunology, vol. 46, no. 4, 2021, pp. 524-530. doi:10.5114/ceji.2021.111166.

Vancouver

Adamska M, Kowal-Wiśniewska E, Kiwerska K, Ustaszewski A, Czerwińska-Rybak J, Kanduła Z et al. New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia. Central European Journal of Immunology. 2021;46(4):524-530. doi:10.5114/ceji.2021.111166.

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Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by the presence of cytopenias, ineffective hematopoiesis and frequent transformation into secondary acute myeloid leukemia (secAML). Recent genomic studies provide unprecedented insight into the molecular landscape of clonal proliferation in MDS. Genetic diversity of both MDS and secAML subclones cannot be defined by a single somatic mutation. Mutations of the founding clone may survive over implemented chemotherapy and allogenic hematopoietic cell transplantation (alloHCT), but new subclonal mutations may also appear. Next generation sequencing (NGS) makes it possible to define the mutational profile of disease subclones during the treatment course and has a potential in pre- and post-alloHCT monitoring. Understanding the molecular pathophysiology of MDS may soon allow for monitoring the course of disease and personalized treatment depending on the mutational landscape. In the present paper we report, for the first time in MDS, ASXL1 c.1945G>T, TET2 c.4044+2dupT and c.4076G>T sequence variants. Moreover, we detected RUNX1 c.509-2A>C and SF3B1 c.1874G>T sequence variants. Furthermore, we verify the clinical utility of NGS and pyrosequencing in MDS and secAML.

keywords:

New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia

NGS, myelodysplastic syndrome, secondary acute myeloid leukemia, allogenic hematopoietic cell transplantation, DNA sequence variants/mutations