Background and Aims

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.

Methods

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.

Results

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).

Conclusions

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.

中文翻译：

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具有种系遗传突变的高危人群的胰腺癌筛查

背景和目标

胰腺癌（PC）是一种致命疾病，最常在无法治愈的阶段进行诊断。不同的高风险遗传变异和癌症综合征会增加发展PC的终生风险。这项研究旨在评估高危种系突变患者初始PC筛查的产率。

方法

无症状的成年人在10年内通过EUS，磁共振成像或CT进行了PC筛查，并进行了回顾性鉴定。高风险个体被定义为在BRCA1，BRCA2，p53（Li-Fraumeni），STK11（Peutz-Jeghers），MSH2（Lynch），ATM（共济失调毛细血管扩张）或APC（家族性腺瘤性息肉病）中携带种系突变。没有种系突变的患者被排除在外。

结果

总共有86名患者符合研究标准。中位年龄为48.5岁（四分位间距为40-58），女性为79.1％（68），有PC家族史的为43.0％（37）。遗传突变为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％）。筛查发现胰腺异常（PA）占26.7％（23/86），包括囊肿（11，47.8％），高回声线和病灶（10，43.5％）和轻度胰管扩张（2，8.7％）。60岁以上的患者更有可能检测到PA（P = .043）。与磁共振成像或CT相比，EUS检测到更多的PA。通过筛查或随访期间均未诊断出PC病例（中位值为29.8个月；四分位间距为21.7-43.5）。

结论

除非家族或个人病史另有说明，否则50岁以下的PC筛查是低产率的。线性EUS可能是初始PC筛查的首选方式。