Carriers of a pathogenic/likely pathogenic (P/LP) BRCA1/BRCA2/ATM/PALB2 variant are at increased risk of pancreatic ductal adenocarcinoma (PDAC), yet current guidelines recommend surveillance only for those with a family history of PDAC. We aimed to investigate outcomes of endoscopic ultrasound (EUS)–based PDAC surveillance in BRCA1/BRCA2/ATM/PALB2 carriers without a family history of PDAC. We performed a retrospective analysis of all P/LP BRCA1/BRCA2/ATM/PALB2 carriers who underwent EUS at a tertiary care center. Of 194 P/LP BRCA1/BRCA2/ATM/PALB2 carriers who underwent EUS, 64 (33%) had no family history of PDAC and had at least 1 EUS for PDAC surveillance. These individuals underwent 143 total EUSs, were predominantly female (72%), and BRCA2 carriers (73%), with the majority having a personal history of cancer other than PDAC (67%). The median age at time of first EUS was 62 years [interquartile range (IQR), 53–67 years] and a median of 2 EUSs (IQR 1–3) were performed per patient, with a median of 3 years (IQR 2–4.5 years) between the first and last EUS for those with more than 1 EUS. Pancreatic abnormalities were detected in 44%, including cysts in 27%, and incidental luminal abnormalities in 41%. Eight percent developed a new pancreatic mass or cyst during surveillance, 2 individuals developed PDAC, and no serious complications resulted from surveillance. After discussion of the risks, limitations, and potential benefits, PDAC surveillance can be considered in BRCA1/BRCA2/ATM/PALB2 carriers without a family history of PDAC; however, the effectiveness of PDAC surveillance in this population requires further study. Prevention Relevance: BRCA1/BRCA2/ATM/PALB2 carriers have increased pancreatic ductal adenocarcinoma (PDAC) risk, yet are typically not eligible for PDAC surveillance in the absence of PDAC family history. Herein we describe outcomes of PDAC surveillance in BRCA1/BRCA2/ATM/PALB2 carriers without a family history of PDAC, showing that PDAC surveillance can be considered in this high-risk group.

中文翻译：

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基于 EUS 的无胰腺癌家族史的 BRCA1/BRCA2/PALB2/ATM 携带者的胰腺癌监测

致病性/可能致病性 (P/LP) BRCA1/BRCA2/ATM/PALB2 变异的携带者患胰腺导管腺癌 (PDAC) 的风险增加，但目前的指南建议仅对有 PDAC 家族史的人进行监测。我们旨在调查无 PDAC 家族史的 BRCA1/BRCA2/ATM/PALB2 携带者中基于内镜超声 (EUS) 的 PDAC 监测结果。我们对在三级医疗中心接受 EUS 的所有 P/LP BRCA1/BRCA2/ATM/PALB2 携带者进行了回顾性分析。在接受 EUS 的 194 名 P/LP BRCA1/BRCA2/ATM/PALB2 携带者中，64 名 (33%) 没有 PDAC 家族史，并且至少有 1 个 EUS 用于 PDAC 监测。这些人总共接受了 143 次 EUS，主要是女性（72%）和 BRCA2 携带者（73%），其中大多数人有除 PDAC 以外的癌症病史（67%）。首次 EUS 时的中位年龄为 62 岁 [四分位距 (IQR)，53-67 岁]，每位患者进行了 2 次 EUS (IQR 1-3)，中位时间为 3 年 (IQR 2- 4.5 年）对于拥有超过 1 个 EUS 的人来说，在第一个和最后一个 EUS 之间。44% 检测到胰腺异常，包括 27% 的囊肿和 41% 的偶然管腔异常。8% 在监测期间出现新的胰腺肿块或囊肿，2 人出现 PDAC，监测未导致严重并发症。在讨论了风险、局限性和潜在益处之后，可以考虑对没有 PDAC 家族史的 BRCA1/BRCA2/ATM/PALB2 携带者进行 PDAC 监测；然而，PDAC 监测在该人群中的有效性需要进一步研究。预防相关：BRCA1/BRCA2/ATM/PALB2 携带者胰腺导管腺癌 (PDAC) 风险增加，但在没有 PDAC 家族史的情况下通常不符合 PDAC 监测的条件。在这里，我们描述了没有 PDAC 家族史的 BRCA1/BRCA2/ATM/PALB2 携带者的 PDAC 监测结果，表明在这个高危人群中可以考虑 PDAC 监测。