Background/Objectives: Endometrial cancer (EC) is a common malignancy in developed countries, with incidence closely linked to lifestyle factors and genetic predispositions, notably Lynch syndrome. Traditional biopsy methods for diagnosis and monitoring are invasive. This study aims to develop and validate a non-invasive diagnostic method for EC using liquid biopsy, specifically examining circulating tumor DNA (ctDNA) for its potential in early detection and disease monitoring.Methods: A cohort of 63 patients with EC or atypical endometrial hyperplasia (AEH) was recruited from the Gynecological Unit of the Azienda Ospedaliera Universitaria Federico II. Plasma samples were processed to extract ctDNA, which was sequenced and analyzed for mutations. Matched tumor tissue and germline DNA were also examined to confirm mutation concordance and assess potential genetic predispositions.Results: Pathogenic mutations were identified in plasma ctDNA in 59 out of 63 cases (93%), with a 65% concordance between plasma ctDNA mutations and those found in solid tumor samples. Key mutations in genes such asPTEN,PIK3R1, andKMT2Cwere significantly associated with a higher tumor grade and advanced stage disease, such as myometrial infiltration.Conclusions: Liquid biopsy shows promise as a minimally invasive diagnostic and monitoring tool for EC, offering real-time insights into tumor biology. The high mutation concordance between the plasma ctDNA and tumor tissue underscores the potential of a liquid biopsy in managing EC, particularly for patients at risk of recurrence. Further longitudinal studies are needed to establish ctDNA as a standard tool in EC diagnosis and monitoring.
背景/目的：子宫内膜癌（EC）是发达国家常见的恶性肿瘤，其发病率与生活方式因素和遗传易感性密切相关，尤其是林奇综合征。传统的诊断和监测活检方法具有侵入性。本研究旨在开发和验证一种利用液体活检的非侵入性EC诊断方法，特别探讨循环肿瘤DNA（ctDNA）在早期检测和疾病监测中的潜力。 方法：从费德里科二世大学医院妇科科室招募了63名EC或非典型子宫内膜增生（AEH）患者。处理血浆样本以提取ctDNA，并进行测序和突变分析。同时检查匹配的肿瘤组织和种系DNA，以确认突变一致性并评估潜在的遗传易感性。 结果：在63例患者中，59例（93%）的血浆ctDNA中检测到致病性突变，血浆ctDNA突变与实体肿瘤样本中的突变一致性为65%。PTEN、PIK3R1和KMT2C等基因的关键突变与较高的肿瘤分级和晚期疾病（如肌层浸润）显著相关。 结论：液体活检有望成为EC的微创诊断和监测工具，提供对肿瘤生物学的实时洞察。血浆ctDNA与肿瘤组织之间的高突变一致性凸显了液体活检在管理EC中的潜力，特别是对于有复发风险的患者。需要进一步的纵向研究来确立ctDNA作为EC诊断和监测的标准工具。
肿瘤(癌症)患者之家