通过快速尸检计划，将遗传BRCA1/2致病突变携带者和非携带者的转移性疾病模式进行分类和比较，这些人患有乳腺、卵巢和前列腺癌。50名参与者（19名遗传突变携带者）记录了主要身体系统的转移数量和患者的转移比例。分析被分为不同肿瘤和突变亚组的患者的疾病模式。四个常见的受影响的器官系统是消化系统（仅限肝脏）（82％）、呼吸系统（76％）、胃肠系统（65％）和网状内皮系统（42％）。BRCA1/2遗传携带者与非携带者相比，在转移性乳腺癌的模式方面存在显着差异。乳腺癌患者涉及的器官系统明显较少（中位数n = 3，范围= 1-3），而非携带者涉及的器官系统更多（中位数n = 9，范围= 1-7）（P = 0.03）。BRCA1/2携带卵巢癌的患者转移性癌症的器官系统有明显增加（中位数n = 10，范围= 3-8），而非携带者没有这种情况（中位数n = 5，范围= 3-5）（P＜0.001）。在携带前列腺癌的BRCA2携带者和非携带者之间，涉及的系统数量没有明显差异（P = 1.0）。在三种癌症亚型中，局部区域性疾病（6.5％）的缺失相对与远处疾病（93.5％）较多（P＜0.001）。尸检期间收集的大部分转移性肿瘤沉积物（97％）是通过最新的诊断成像技术鉴定的。虽然本研究的一个主要限制是我们的患者数量较少，特别是在乳腺癌携带者群体中，但乳腺和卵巢癌的转移模式可能会受到BRCA1/2携带者状态的影响，这表明由这些突变导致的肿瘤使用不同的传播机制。这些发现可能会关注在全身成像资源有限的情况下，临床诊断成像的转移监测。© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.

To catalogue and compare the pattern of metastatic disease in germline BRCA1/2 pathogenic mutation carriers and non-carriers with breast, ovarian and prostate cancer from a rapid autopsy programme.The number of metastases in the major body systems and the proportion of participants with metastases were documented in 50 participants (19 germline mutation carriers). Analysis was conducted on the participants' pattern of disease for the different cancers and mutation subgroups. The four commonly affected organ systems were the digestive (liver only) (82%), respiratory (76%), gastrointestinal (65%) and reticuloendothelial (42%). There were significant differences in the pattern of metastatic breast cancer in BRCA1/2 germline carriers compared with non-carriers. Breast cancer carriers had significantly fewer organ systems involved (median n = 3, range = 1-3) compared with non-carriers (median n = 9, range = 1-7) (P = 0.03). BRCA1/2 carriers with ovarian carcinomas had significantly more organ systems with metastatic carcinoma (median n = 10, range = 3-8) than non-carriers (median n = 5, range = 3-5) (P < 0.001). There were no significant differences in the number of involved systems in BRCA2 carriers compared with non-carriers with prostate cancer (P = 1.0). There was an absence of locoregional disease (6.5%) compared with distant disease (93.5%) among the three cancer subtypes (P < 0.001). The majority of metastatic deposits (97%) collected during the autopsy were identified by recent diagnostic imaging.Even though a major limitation of this study is that our numbers are small, especially in the breast cancer carrier group, the metastatic patterns of breast and ovarian cancers may be impacted by BRCA1/2 carrier status, suggesting that tumours derived from patients with these mutations use different mechanisms of dissemination. The findings may focus clinical diagnostic imaging for monitoring metastases where whole-body imaging resources are scant.© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.