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

• Published in: Scientific reports Vol. 11; no. 1; pp. 23301 - 9
• Main Authors: Dratwa, Marta, Wysoczańska, Barbara, Butrym, Aleksandra, Łacina, Piotr, Mazur, Grzegorz, Bogunia-Kubik, Katarzyna
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 02.12.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/67/1990; 631/67/68; Acute myeloid leukemia; Age Factors; Cytogenetics; Female; fms-Like Tyrosine Kinase 3 - genetics; Gene polymorphism; Genetic Association Studies; Genetic variability; Humanities and Social Sciences; Humans; Leukemia; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - mortality; Leukocyte Count; Male; Middle Aged; multidisciplinary; Mutation; Myeloid cells; Nucleophosmin - genetics; Polymorphism, Genetic - genetics; Risk; RNA-directed DNA polymerase; Science; Science (multidisciplinary); Survival Rate; Telomerase; Telomerase - genetics; Telomerase reverse transcriptase; Telomere Homeostasis - genetics; Telomeres
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-021-02767-1

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.