Department of Gastroenterology, Hepatology and Nutrition, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Gastrointest Endosc. 2018 Jun;87(6):1443-1450. doi: 10.1016/j.gie.2017.12.019. Epub 2018 Jan 5.
Pancreatic cancer (PC) is a deadly disease that is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations.
Asymptomatic adults underwent PC screening by EUS, magnetic resonance imaging, or CT during a 10-year period and were retrospectively identified. High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis). Patients without germline mutations were excluded.
In total, 86 patients met the study criteria. The median age was 48.5 years (interquartile range, 40-58), 79.1% (68) were women, and 43.0% (37) had a family history of PC. The genetic mutations were BRCA2 (50, 58.1%), BRCA1 (14, 16.3%), p53 (12, 14.0%), STK11 (5, 5.8%), MSH2 (3, 3.5%), ATM (1, 1.2%), and APC (1, 1.2%). Screening detected a pancreatic abnormality (PA) in 26.7% (23/86), including cysts (11, 47.8%), hyperechoic strands and foci (10, 43.5%), and mild pancreatic duct dilation (2, 8.7%). Patients older than 60 years were more likely to have a PA detected (P = .043). EUS detected more PAs than magnetic resonance imaging or CT. No cases of PC were diagnosed by screening or during follow-up (median, 29.8 months; interquartile range, 21.7-43.5).
Unless indicated otherwise by family or personal history, PC screening under the age of 50 is low yield. Linear EUS may be the preferred modality for initial PC screening.
胰腺癌（PC）是一种致命疾病，通常在无法治愈的阶段被诊断出来。不同的高危遗传变异和癌症综合征会增加终生患 PC 的风险。本研究旨在评估具有高危种系突变的患者初始 PC 筛查的效果。
在 10 年期间，通过 EUS、磁共振成像或 CT 对无症状成年人进行 PC 筛查，并进行回顾性识别。高危个体定义为携带种系突变的 BRCA1、BRCA2、p53（Li-Fraumeni）、STK11（Peutz-Jeghers）、MSH2（Lynch）、ATM（ataxia-telangiectasia）或 APC（家族性腺瘤性息肉病）。排除没有种系突变的患者。
共有 86 名患者符合研究标准。中位年龄为 48.5 岁（四分位距，40-58），79.1%（68）为女性，43.0%（37）有 PC 家族史。基因突变包括 BRCA2（50，58.1%）、BRCA1（14，16.3%）、p53（12，14.0%）、STK11（5，5.8%）、MSH2（3，3.5%）、ATM（1，1.2%）和 APC（1，1.2%）。筛查检测到 26.7%（23/86）的胰腺异常（PA），包括囊肿（11，47.8%）、高回声线和灶（10，43.5%）和轻度胰管扩张（2，8.7%）。年龄大于 60 岁的患者更有可能检测到 PA（P=0.043）。EUS 比磁共振成像或 CT 检测到更多的 PA。筛查或随访期间未诊断出 PC 病例（中位随访时间为 29.8 个月；四分位距为 21.7-43.5）。
除非家族史或个人史另有指示，否则 50 岁以下的 PC 筛查效果不佳。线性 EUS 可能是初始 PC 筛查的首选方式。
