Hrstka Roman, Zavadil-Kokas Filip, Moukova Lucie, Kolarova Tamara, Shahidianakbar Maryam, Anton Milan, Ovesna Petra, Munzova Dita, Bednarikova Marketa, Bretova Petra, Minar Lubos, Hausnerova Jitka, Weinberger Vit
Research Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, 656 53, Czech Republic.
Department of Comprehensive Cancer Care, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, 656 53, Czech Republic.
BMC Res Notes. 2025 Mar 18;18(1):117. doi: 10.1186/s13104-025-07173-8.
Endometrial cancer (EC) is the most common malignancy of the female genital tract in developed countries, yet preventive screening remains unavailable, and diagnostic approaches are largely limited to symptomatic women. Despite advancements in precision oncology, the biology of precancerous lesions is less understood compared to advanced disease. To address this gap, we conducted a prospective case-control study analysing uterine lavage fluid from women undergoing diagnostic evaluation. The study included 257 participants: 80 diagnosed with endometrial intraepithelial neoplasia (EIN), 89 with early-stage EC, and 88 healthy controls. Using targeted next-generation sequencing, we examined genetic alterations in 22 selected genes associated with EC development.
Our findings did not confirm a direct association between specific genetic mutations in uterine lavage fluid and the presence of EIN or early-stage EC (p = 0.501). Mutations were detected in both cases and controls, with a higher overall mutation burden observed in controls, suggesting potential background genomic alterations unrelated to EC development. In conclusion, while molecular profiling of uterine lavage fluid remains a promising concept for non-invasive diagnosis, our results highlight significant challenges in specificity. Further studies with larger cohorts and additional biomarkers are necessary to clarify its diagnostic relevance and clinical applicability.
子宫内膜癌（EC）是发达国家女性生殖道最常见的恶性肿瘤，但预防性筛查仍未普及，诊断方法在很大程度上仅限于有症状的女性。尽管精准肿瘤学取得了进展，但与晚期疾病相比，癌前病变的生物学特性仍了解较少。为填补这一空白，我们开展了一项前瞻性病例对照研究，分析接受诊断评估的女性的子宫灌洗液。该研究纳入了257名参与者：80名被诊断为子宫内膜上皮内瘤变（EIN），89名患有早期EC，88名健康对照。我们使用靶向二代测序技术，检测了22个与EC发生相关的选定基因的基因改变。
我们的研究结果未证实子宫灌洗液中的特定基因突变与EIN或早期EC的存在之间存在直接关联（p = 0.501）。病例组和对照组均检测到突变，对照组的总体突变负担更高，这表明可能存在与EC发生无关的潜在背景基因组改变。总之，虽然子宫灌洗液的分子谱分析对于非侵入性诊断仍是一个有前景的概念，但我们的结果凸显了特异性方面的重大挑战。需要开展更大样本队列和增加生物标志物的进一步研究，以阐明其诊断相关性和临床适用性。
