Peritoneal washings analysis in endometrial cancer: Comparison of somatic mutation detection with panel sequencing and traditional cytology

IF 4.5 2区 医学 Q1 OBSTETRICS & GYNECOLOGY
Maureen E. Byrne , Pier Selenica , Kimberly Dessources , Arnaud Da Cruz Paula , Sushmita Gordhandas , Michelle Wu , Fresia Pareja , Kara Long Roche , Jennifer J. Mueller , Yukio Sonoda , Nadeem R. Abu-Rustum , Britta Weigelt
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引用次数: 0

Abstract

Objectives

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.

Methods

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.

Results

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.

Conclusions

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.
子宫内膜癌的腹膜冲洗分析:体细胞突变检测与面板测序和传统细胞学的比较
目的盆腔冲洗阳性对子宫内膜癌(EC)预后的意义尚不清楚,而且很少有数据表明盆腔冲洗是与患者肿瘤相关的遗传信息来源。我们试图评估在腹膜冲洗中识别EC突变的可行性。方法收集2018年9月至2019年7月期间21例活检确诊的新诊断EC患者的腹腔洗涤液。腹膜冲洗、原代EC和正常DNA样本进行了针对468个癌症相关基因的下一代测序。将测序结果与细胞学分析进行比较。结果21例EC患者中,细胞学检查发现8例(38%)腹膜冲洗为阳性,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%)的腹膜冲洗中检测到肿瘤突变(TMs)。总的来说,11/21(52%)的样本显示细胞学和分子分析结果一致,所有阳性细胞学结果都被分子分析证实。然而,在细胞学结果阴性或可疑的病例中,77%(10/13)在洗涤中发现TMs。5例细胞学阴性患者分子分析阳性(5/7,71%),5例可疑洗涤患者证实TMs(5/6, 83%)。在10例复发的EC患者中,不论分期,5/10(50%)患者细胞学阳性,而9/10(90%)患者基于分子分析有TMs。结论应用面板测序技术对腹腔洗液进行突变分析是可行的。相当一部分细胞学阴性或可疑洗涤的患者检测到TMs。
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来源期刊
Gynecologic oncology
Gynecologic oncology 医学-妇产科学
CiteScore
8.60
自引率
6.40%
发文量
1062
审稿时长
37 days
期刊介绍: Gynecologic Oncology, an international journal, is devoted to the publication of clinical and investigative articles that concern tumors of the female reproductive tract. Investigations relating to the etiology, diagnosis, and treatment of female cancers, as well as research from any of the disciplines related to this field of interest, are published. Research Areas Include: • Cell and molecular biology • Chemotherapy • Cytology • Endocrinology • Epidemiology • Genetics • Gynecologic surgery • Immunology • Pathology • Radiotherapy
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