Panero Julieta, O'Callaghan Nathan J, Fenech Michael, Slavutsky Irma
Laboratorio de Genética de Neoplasias Linfoides, Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, J.A. Pacheco de Melo 3081, C1425AUM, Buenos Aires, Argentina,
Mol Biotechnol. 2015 Feb;57(2):155-9. doi: 10.1007/s12033-014-9811-8.
Telomere length (TL) is currently used as an emerging biomarker in understanding the development/progression of hematological malignancies. The absolute quantitative PCR (qPCR) methodology has allowed the study of TL from a variety of mammalian tissues, but it has not been tested for bone marrow (BM) samples. In this study, we have examined the relationship between TL data generated by absolute qPCR versus those obtained by terminal restriction fragments (TRF) in 102 BM samples from patients with plasma cell disorders. A significant linear correlation between both methodologies was observed (p < 0.0001; r (2) = 0.70). Results were also analyzed in relation to clinical characteristics and significant associations between telomere shortening and parameters of adverse prognosis were observed. Furthermore, another set of 47 BM samples from patients with low quantity of DNA for TRF assay were suitably analyzed by qPCR, indicating the usefulness of the absolute qPCR methodology for the inclusion of patients with scarce material to the study. Taken together, these findings are of interest considering the importance of telomere dysfunction in the pathogenesis of cancer and give a new alternative to measure TL in hematologic disorders with substantial time and cost savings.
端粒长度（TL）目前作为一种新兴的生物标志物，用于理解血液系统恶性肿瘤的发生/发展。绝对定量PCR（qPCR）方法已可用于研究多种哺乳动物组织中的端粒长度，但尚未在骨髓（BM）样本中进行测试。在本研究中，我们检测了102例浆细胞疾病患者骨髓样本中，绝对定量PCR产生的端粒长度数据与通过末端限制片段（TRF）获得的数据之间的关系。两种方法之间观察到显著的线性相关性（p < 0.0001；r² = 0.70）。还根据临床特征分析了结果，并观察到端粒缩短与不良预后参数之间的显著关联。此外，另一组47例因DNA量少而无法进行TRF分析的患者骨髓样本，通过qPCR进行了适当分析，表明绝对定量PCR方法对于纳入材料稀缺的患者进行研究是有用的。综上所述，考虑到端粒功能障碍在癌症发病机制中的重要性，这些发现很有意义，并为在血液系统疾病中测量端粒长度提供了一种新的选择，可大幅节省时间和成本。
