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.
DNA sequence variants/mutations
NGS
allogenic hematopoietic cell transplantation
myelodysplastic syndrome
secondary acute myeloid leukemia
Journal
Central-European journal of immunology
ISSN: 1426-3912
Titre abrégé: Cent Eur J Immunol
Pays: Poland
ID NLM: 9702239
Informations de publication
Date de publication:
2021
2021
Historique:
received:
04
12
2020
accepted:
05
07
2021
entrez:
7
2
2022
pubmed:
8
2
2022
medline:
8
2
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35125953
doi: 10.5114/ceji.2021.111166
pii: 45715
pmc: PMC8808311
doi:
Types de publication
Case Reports
Langues
eng
Pagination
524-530Informations de copyright
Copyright © 2021 Termedia.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Blood. 2010 Nov 11;116(19):3923-32
pubmed: 20693430
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
J Clin Oncol. 2014 Sep 1;32(25):2691-8
pubmed: 25092778
Semin Hematol. 2017 Jul;54(3):159-166
pubmed: 28958290
JCI Insight. 2018 Mar 8;3(5):
pubmed: 29515031
Int J Mol Sci. 2016 Mar 24;17(4):440
pubmed: 27023522
Blood Res. 2014 Dec;49(4):216-27
pubmed: 25548754
Sci Rep. 2017 Jul 14;7(1):5386
pubmed: 28710449
Clin Lymphoma Myeloma Leuk. 2018 Aug;18(8):528-532
pubmed: 29937400
J Clin Oncol. 2017 Mar 20;35(9):968-974
pubmed: 28297619
J Clin Oncol. 2016 Oct 20;34(30):3627-3637
pubmed: 27601546
Blood. 2017 Jan 26;129(4):424-447
pubmed: 27895058
Leukemia. 2014 Feb;28(2):241-7
pubmed: 24220272
Blood. 2013 Nov 21;122(22):3616-27; quiz 3699
pubmed: 24030381
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
N Engl J Med. 2014 Dec 25;371(26):2488-98
pubmed: 25426837
Nature. 2012 Jan 18;481(7381):306-13
pubmed: 22258609
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947
pubmed: 30371878
Oncotarget. 2017 Jun 27;8(26):43295-43305
pubmed: 28476038
Bone Marrow Transplant. 2014 May;49(5):679-83
pubmed: 24510069
Am J Transl Res. 2019 Jun 15;11(6):3651-3658
pubmed: 31312376
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Blood. 2016 May 19;127(20):2391-405
pubmed: 27069254
Clin Lymphoma Myeloma Leuk. 2017 Jan;17(1):7-13
pubmed: 27771290