Byrne Maureen E, Selenica Pier, Dessources Kimberly, Da Cruz Paula Arnaud, Gordhandas Sushmita, Wu Michelle, Pareja Fresia, Roche Kara Long, Mueller Jennifer J, Sonoda Yukio, Abu-Rustum Nadeem R, Weigelt Britta
Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Gynecol Oncol. 2025 Jun;197:155-162. doi: 10.1016/j.ygyno.2025.05.002. Epub 2025 May 9.
The prognostic significance of positive pelvic washings in endometrial cancer (EC) remains unknown, and little data exist regarding washings as a source of genetic information in relation to a patient's tumor. We sought to assess the feasibility of identifying EC mutations in peritoneal washings.
Peritoneal washings from 21 biopsy-confirmed newly diagnosed patients with EC across disease stages between 09/2018 and 07/2019 were collected. Peritoneal washings, primary EC, and normal DNA samples were subjected to next-generation sequencing targeting 468 cancer-related genes. Sequencing results were compared to cytological analysis.
For the 21 EC cases included, cytology found 8 (38 %) of the peritoneal washings as positive, 7 (33 %) as negative, and 6 (29 %) as suspicious or rare-atypical cells. Based on molecular analysis, tumor mutations (TMs) were detected in 18/21 (86 %) of peritoneal washings. Overall, 11/21 (52 %) samples demonstrated concordant results between cytologic and molecular analysis, and all positive cytologic results were confirmed with molecular analysis. However, of cases with negative or suspicious cytology results, 77 % (10/13) were found to have TMs in washings. Five patients with negative cytology were positive on molecular analysis (5/7, 71 %), and 5 patients with suspicious washings demonstrated TMs (5/6, 83 %). Of the 10 EC patients who developed recurrences, regardless of stage, 5/10 (50 %) patients had positive cytology, whereas 9/10 (90 %) had TMs based on molecular analysis.
Mutational analysis of peritoneal washings using panel sequencing in EC is feasible. A substantial subset of patients with cytology-negative or suspicious washings had TMs detected.
子宫内膜癌(EC)盆腔冲洗液阳性的预后意义尚不清楚,关于冲洗液作为患者肿瘤相关遗传信息来源的数据也很少。我们试图评估在腹膜冲洗液中识别EC突变的可行性。
收集了2018年9月至2019年7月期间21例经活检确诊的新诊断EC患者的腹膜冲洗液,这些患者处于不同疾病阶段。对腹膜冲洗液、原发性EC和正常DNA样本进行靶向468个癌症相关基因的二代测序。将测序结果与细胞学分析进行比较。
对于纳入的21例EC病例,细胞学检查发现8例(38%)腹膜冲洗液为阳性,7例(33%)为阴性,6例(29%)为可疑或罕见非典型细胞。基于分子分析,在18/21(86%)的腹膜冲洗液中检测到肿瘤突变(TMs)。总体而言,11/21(52%)的样本在细胞学和分子分析之间显示出一致的结果,所有阳性细胞学结果均通过分子分析得到证实。然而,在细胞学结果为阴性或可疑的病例中,77%(10/13)的冲洗液中发现有TMs。5例细胞学结果为阴性的患者分子分析呈阳性(5/7,71%),5例冲洗液可疑的患者显示有TMs(5/6,83%)。在10例出现复发的EC患者中,无论处于何阶段,5/10(50%)的患者细胞学检查为阳性,而基于分子分析,9/10(90%)的患者有TMs。
在EC中使用panel测序对腹膜冲洗液进行突变分析是可行的。相当一部分细胞学检查为阴性或冲洗液可疑的患者检测到了TMs。