摘要: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.