TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia

Abstract Acute myeloid leukaemia (AML) is a neoplasm of immature myeloid cells characterized by various cytogenetic alterations. The present study showed that in addition to the FLT3-ITD and NPM1 mutation status, telomere length (TL) and telomerase reverse transcriptase (TERT) gene polymorphisms may...

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Autores principales:	Marta Dratwa, Barbara Wysoczańska, Aleksandra Butrym, Piotr Łacina, Grzegorz Mazur, Katarzyna Bogunia-Kubik
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/11385e314e404688906129966ec49594
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spelling	oai:doaj.org-article:11385e314e404688906129966ec495942021-12-05T12:11:42ZTERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia10.1038/s41598-021-02767-12045-2322https://doaj.org/article/11385e314e404688906129966ec495942021-12-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-02767-1https://doaj.org/toc/2045-2322Abstract Acute myeloid leukaemia (AML) is a neoplasm of immature myeloid cells characterized by various cytogenetic alterations. The present study showed that in addition to the FLT3-ITD and NPM1 mutation status, telomere length (TL) and telomerase reverse transcriptase (TERT) gene polymorphisms may affect risk and overall survival (OS) in AML. TL was longer in healthy controls than in AML patients and positively correlated with age in the patients, but not in healthy subjects. TL was found to be independently affected by the presence of the FLT3-ITD mutation. As for the TERT gene polymorphism, AML patients with the TERT rs2853669 CC genotype were characterized by significantly shorter OS than patients carrying the T allele. Another observation in our study is the difference in TL and OS in patients belonging to various risk stratification groups related to the FLT3-ITD and NPM1 mutation status. Patients with adverse risk classification (mutation in FLT3-ITD and lack of mutation in NPM1) presented with the shortest telomeres and significantly worse OS. In conclusion, OS of AML patients appears to be affected by TERT gene variability and TL in addition to other well-established factors such as age, WBC count, or FLT3-ITD and NPM1 mutation status.Marta DratwaBarbara WysoczańskaAleksandra ButrymPiotr ŁacinaGrzegorz MazurKatarzyna Bogunia-KubikNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marta Dratwa Barbara Wysoczańska Aleksandra Butrym Piotr Łacina Grzegorz Mazur Katarzyna Bogunia-Kubik TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
description	Abstract Acute myeloid leukaemia (AML) is a neoplasm of immature myeloid cells characterized by various cytogenetic alterations. The present study showed that in addition to the FLT3-ITD and NPM1 mutation status, telomere length (TL) and telomerase reverse transcriptase (TERT) gene polymorphisms may affect risk and overall survival (OS) in AML. TL was longer in healthy controls than in AML patients and positively correlated with age in the patients, but not in healthy subjects. TL was found to be independently affected by the presence of the FLT3-ITD mutation. As for the TERT gene polymorphism, AML patients with the TERT rs2853669 CC genotype were characterized by significantly shorter OS than patients carrying the T allele. Another observation in our study is the difference in TL and OS in patients belonging to various risk stratification groups related to the FLT3-ITD and NPM1 mutation status. Patients with adverse risk classification (mutation in FLT3-ITD and lack of mutation in NPM1) presented with the shortest telomeres and significantly worse OS. In conclusion, OS of AML patients appears to be affected by TERT gene variability and TL in addition to other well-established factors such as age, WBC count, or FLT3-ITD and NPM1 mutation status.
format	article
author	Marta Dratwa Barbara Wysoczańska Aleksandra Butrym Piotr Łacina Grzegorz Mazur Katarzyna Bogunia-Kubik
author_facet	Marta Dratwa Barbara Wysoczańska Aleksandra Butrym Piotr Łacina Grzegorz Mazur Katarzyna Bogunia-Kubik
author_sort	Marta Dratwa
title	TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
title_short	TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
title_full	TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
title_fullStr	TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
title_full_unstemmed	TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
title_sort	tert genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/11385e314e404688906129966ec49594
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TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia

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