本研究旨在调查腹膜间皮瘤（PM）患者是否有生殖系突变（GM）时，相较于没有GM的患者，是否具有不同的手术特征。PM患者从正在进行的82个易感基因的生殖系测试的前瞻性研究中选择。使用单变量、多变量和接收器操作特征（ROC）分析，将生殖系状态与前瞻性收集数据库中获得的手术数据进行相关性分析。在2009年至2019年之间招募的88名PM患者中，发现18个GM（20.5％），其中BRCA1相关蛋白1（BAP1）（n = 11，所有患者的12.5％）、SDHA（n = 2）和WT1、CDKN2A、CHEK2、ATM和BRCA2（每位患者各一个）。71名患者接受了手术治疗，最常见的是细胞减灭手术，并联用超声波加热灌注化疗（n = 61）。与没有GM的患者（n = 70）相比，GM患者有其他先前肿瘤的患病率更高（61.1％ vs. 31.4％，p = .02），血小板计数较低（251 [160-413] vs. 367 [196-780] K / µL，p =. 005）。生存结果在两组之间没有明显差异。BAP1 GM患者更容易发展成双腔道疾病，并表现出较低的血小板计数和有丝分裂计数得分以及更高的腹膜癌指数（PCI，所有p ≤.04），与没有GM的患者相比。在ROC分析中，PCI、血小板计数和有丝分裂得分的组合为手术PM患者中的BAP1 GM检测提供了0.96（95％CI，0.91～1.0）的曲线下面积。手术PM患者中的更高术中肿瘤负荷和较低的血小板计数和有丝分裂得分提示存在BAP1 GM，并应提示进行生殖系测试。© 2023年美国癌症协会。

This study aimed to investigate if peritoneal mesothelioma (PM) patients with germline mutations (GM) have distinct surgical characteristics when compared to those without GM.PM patients were selected from an ongoing prospective study that conducts germline testing of 82 susceptibility genes. Germline status was correlated with surgical data obtained from a prospectively collected database using univariate, multivariate, and receiver operating characteristic (ROC) analyses.Out of 88 PM patients enrolled between 2009 and 2019, 18 GMs (20.5%) were identified in BRCA1-associated protein 1 (BAP1) (n = 11, 12.5% of all patients), SDHA (n = 2) and WT1, CDKN2A, CHEK2, ATM, and BRCA2 (n = 1 patient each). Surgical procedures were performed in 71 patients, the most common of which were cytoreductive surgeries with hyperthermic intraperitoneal chemotherapy (n = 61). Patients with GM presented with a higher prevalence of other prior cancers (61.1% vs. 31.4%, p = .02) and lower platelet count (251 [160-413] vs. 367 [196-780] K/µL, p = .005) compared to those without GM (n = 70). Survival outcomes did not differ significantly between the groups. Patients with BAP1 GMs were more likely to develop bicavitary disease and to present with lower platelet count and mitotic count score, and higher peritoneal cancer index (PCI, all p ≤ .04) compared with those without GM. On ROC analysis, the combination of PCI, platelet count and mitotic score yielded an area under the curve of 0.96 (95% CI, 0.91-1.0) for BAP1 GM detection among operated PM patients.Higher intraoperative tumor burden and lower platelet count and mitotic score are suggestive of BAP1 GMs in surgical PM patients and should prompt germline testing.© 2023 American Cancer Society.