Pharmacogenetics Laboratory, Drug Research and Development Center (NPDM), Department of Physiology and Pharmacology, Federal University of Ceará, Fortaleza, CE, Brazil.
Pharmacogenetics Laboratory, Drug Research and Development Center (NPDM), Department of Physiology and Pharmacology, Federal University of Ceará, Fortaleza, CE, Brazil
In Vivo. 2020 Nov-Dec;34(6):3093-3101. doi: 10.21873/invivo.12142.
Telomeres compose the end portions of human chromosomes, and their main function is to protect the genome. In hematological disorders, telomeres are shortened, predisposing to genetic instability that may cause DNA damage and chromosomal rearrangements, inducing a poor clinical outcome. Studies from 2010 to 2019 were compiled and experimental studies using samples of patients diagnosed with hematological malignancies that reported the size of the telomeres were described. Abnormal telomere shortening is described in cancer, but in hematological neoplasms, telomeres are still shortened even after telomerase reactivation. In this study, we compared the sizes of telomeres in leukemias, myelodysplastic syndrome and lymphomas, identifying that the smallest telomeres are present in patients at relapse. In conclusion, the experimental and clinical data analyzed in this review demonstrate that excessive telomere shortening is present in major hematological malignancies and its analysis and measurement is a crucial step in determining patient prognosis, predicting disease risk and assisting in the decision for targeted therapeutic strategies.
端粒构成人类染色体的末端部分,其主要功能是保护基因组。在血液系统疾病中,端粒缩短,易发生遗传不稳定性,可能导致 DNA 损伤和染色体重排,从而导致不良的临床结局。本文编译了 2010 年至 2019 年的研究,并描述了使用诊断为血液恶性肿瘤的患者样本进行的实验研究,这些研究报告了端粒的大小。端粒缩短异常在癌症中已有描述,但在血液系统肿瘤中,即使端粒酶重新激活,端粒仍会缩短。在这项研究中,我们比较了白血病、骨髓增生异常综合征和淋巴瘤中端粒的大小,结果表明在复发患者中存在最短的端粒。总之,本综述分析的实验和临床数据表明,主要血液恶性肿瘤中存在过度的端粒缩短,对其进行分析和测量是确定患者预后、预测疾病风险和辅助靶向治疗策略决策的关键步骤。