To investigate the diagnostic performance of relative telomere length (RTL) in cell-free DNA (cfDNA) for endometrioid endometrial cancer (EC). We measured RTL in cfDNA of 40 EC patients (65 ± 12 years) and 31 healthy controls (HC) (63 ± 13 years), excluding in both groups other oncologic and severe non-oncologic diseases to limit confounders. Circulating cfDNA was extracted from serum using the QIAamp DNA Blood Mini kit (Qiagen, Hilden, Germany). After the quantitative real-time polymerase chain reaction, telomere repeat copy number to single-gene copy number ratio was calculated. RTL in cfDNA was found to be significantly lower in EC patients than in HC (p < 0.0001). The diagnostic performance of cfDNA RTL was estimated with receiver operating characteristics (ROC) curve analysis, which showed a diagnostic accuracy for EC of 0.87 (95% CI: 0.79–0.95, p < 0.0001). The cutoff cfDNA RTL value of 2.505 (T/S copy ratio) reported a sensitivity of 80.0% (95% CI: 64.35–90.95) and a specificity of 80.65% (95% CI: 62.53–92.55). Significant differences of RTL among EC stages or grades (p = 0.85 and p = 0.89, respectively) were not observed. Our results suggest that cfDNA RTL analysis may be a diagnostic tool for EC detection since the early stage, whilst its diagnostic performance seems unsatisfactory for cancer progression, staging, and grading. However, further studies are needed to confirm these preliminary findings. In particular, future investigations should focus on high-risk patients (such as those with atypical endometrial hyperplasia) that may benefit from this tool, because TL shortening is not specific for EC and is influenced by other oncologic and non-oncologic diseases.

研究相对端粒长度（RTL）在无细胞DNA（cfDNA）中对子宫内膜样子宫内膜癌（EC）的诊断性能。我们测量了40名EC患者（65±12岁）和31名健康对照（HC）（63±13岁）的cfDNA中的RTL，两组均未排除其他肿瘤和严重非肿瘤疾病，以限制混杂因素。使用QIAamp DNA Blood Mini试剂盒（Qiagen，Hilden，德国）从血清中提取循环cfDNA。实时定量聚合酶链反应后，计算端粒重复拷贝数与单基因拷贝数之比。发现EC患者cfDNA中的RTL明显低于HC（p <0.0001）。cfDNA RTL的诊断性能通过接收器工作特征（ROC）曲线分析进行了估计，该曲线分析显示EC的诊断准确性为0.87（95％CI：0.79-0.95，p  <0.0001）。截止的cfDNA RTL值为2.505（T / S复制比），报告的敏感性为80.0％（95％CI：64.35–90.95），特异性为80.65％（95％CI：62.53–92.55）。EC阶段或等级之间RTL的显着差异（p  = 0.85和p =分别为0.89）。我们的结果表明，从早期开始，cfDNA RTL分析就可能成为EC检测的诊断工具，而其诊断性能对于癌症的进展，分期和分级似乎并不令人满意。但是，需要进一步的研究来确认这些初步发现。尤其是，未来的研究应针对可能受益于此工具的高风险患者（例如具有非典型子宫内膜增生的患者），因为TL缩短并非仅针对EC，并且受其他肿瘤和非肿瘤疾病的影响。