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.

Autor: Adamska MM; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Kowal-Wiśniewska E; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Kiwerska K; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Ustaszewski A; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Czerwińska-Rybak J; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Kanduła Z; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Wojtaszewska M; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Barańska M; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Pruchniewski Ł; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Lewandowski K; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland., Jarmuż-Szymczak M; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Gil L; Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poland.
Jazyk: angličtina
Zdroj: Central-European journal of immunology [Cent Eur J Immunol] 2021; Vol. 46 (4), pp. 524-530. Date of Electronic Publication: 2021 Dec 12.
DOI: 10.5114/ceji.2021.111166
Abstrakt: 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.
Competing Interests: The authors declare no conflict of interest.
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Databáze: MEDLINE
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