Department of Surgery, University of California San Francisco, San Francisco, CA.
Department of Surgery, University of California San Francisco, San Francisco, CA.
J Am Coll Surg. 2020 Jan;230(1):53-63.e1. doi: 10.1016/j.jamcollsurg.2019.09.019. Epub 2019 Oct 28.
Direct-to-consumer BRCA testing will increase BRCA diagnoses and subsequent abdominal imaging. It is unclear whether BRCA carriers are at higher risk of developing pancreatic cysts (PCs) or cyst-associated pancreatic ductal adenocarcinoma (PDAC). We investigated the prevalence of PCs in BRCA-tested patients, and whether BRCA-carriers have higher rates of PDAC when PCs are found.
This is a retrospective cross-sectional study of patients with BRCA testing and abdominal imaging between 1996 and 2018. Pancreatic cysts were identified on original imaging reports. Prevalence and risk characteristics of PCs, as well as incidence of PDAC, were compared between BRCA+, BRCA-, and BRCA-untested patients.
Pancreatic cysts were identified in 4,045 patients among 128,164 unique patients with abdominal imaging, including 33 patients with PCs in 1,113 BRCA-tested patients. There was no difference in PC prevalence between BRCA+, BRCA-, and untested patients (3.6%, 2.6%, 3.2%, respectively; p = 0.64). Pancreatic cysts were diagnosed in BRCA+ patients at a younger age (57.1 vs 65.3 years, p < 0.001); however, there was no difference in risk stratification compared with BRCA- or untested patients by consensus criteria. Across the population of imaged patients, patients with PCs had significantly higher rates of PDAC compared with those without PCs (18.2% vs 2.4%, p < 0.001). Incidence of cyst-associated PDAC was similar in BRCA+ and BRCA- patients (13.3% vs 22.2%, p = 0.84).
BRCA+ patients have similar rates of PCs, high-risk features in their cysts, and PDAC as BRCA- and untested patients. BRCA+ patients likely do not require dedicated abdominal imaging to evaluate for PCs and should follow management guidelines similar to those as the untested general population if an incidental PC is identified.
直接面向消费者的 BRCA 检测将增加 BRCA 诊断和随后的腹部成像。目前尚不清楚 BRCA 携带者是否有更高的风险患上胰腺囊肿（PCs）或与囊肿相关的胰腺导管腺癌（PDAC）。我们调查了 BRCA 检测患者中 PCs 的患病率，以及在发现 PCs 时 BRCA 携带者 PDAC 的发生率是否更高。
这是一项对 1996 年至 2018 年间进行 BRCA 检测和腹部成像的患者进行的回顾性横断面研究。原始成像报告中确定了胰腺囊肿。比较了 BRCA+、BRCA-和 BRCA-未检测患者之间 PCs 的患病率和风险特征，以及 PDAC 的发病率。
在 128164 例具有腹部成像的独特患者中，4045 例患者发现胰腺囊肿，包括 1113 例 BRCA 检测患者中的 33 例胰腺囊肿患者。BRCA+、BRCA-和未检测患者的 PC 患病率无差异（分别为 3.6%、2.6%和 3.2%；p=0.64）。BRCA+ 患者的胰腺囊肿诊断年龄更小（57.1 岁比 65.3 岁，p<0.001）；然而，根据共识标准，与 BRCA-或未检测患者相比，风险分层无差异。在所有成像患者中，患有 PCs 的患者与没有 PCs 的患者相比，PDAC 的发生率明显更高（18.2%比 2.4%，p<0.001）。BRCA+ 和 BRCA-患者中与囊肿相关的 PDAC 发生率相似（13.3%比 22.2%，p=0.84）。
BRCA+ 患者的 PCs 发生率、囊肿的高危特征和 PDAC 与 BRCA-和未检测患者相似。如果偶然发现胰腺囊肿，BRCA+ 患者可能不需要专门进行腹部成像来评估 PCs，并且应遵循与未检测一般人群相似的管理指南。
