Pancreatic Cancer Risk and Screening Outcomes in Li-Fraumeni Syndrome.

IF 1.7 4区医学 Q3 GASTROENTEROLOGY & HEPATOLOGY

Pancreas Pub Date : 2025-02-27 DOI:10.1097/MPA.0000000000002483

Conrad J Fernandes, Yun K Du, Ann Naumer, Laura A Kagami, Anh Le, Madeline Good, Melani Duvall, Jacquelyn Powers, Kristin Zelley, Luke Maese, Suzanne MacFarland, Wendy Kohlmann, Kara N Maxwell, Bryson W Katona

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引用次数: 0

Abstract

Objectives: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome that may confer increased pancreatic cancer (PC) risk. This study assesses PC risk and the rate of pancreatic imaging abnormalities in LFS.

Methods: PC prevalence in LFS was calculated for individuals with a known TP53 variant from the IARC/NCI database. Pancreatic imaging studies across three institutional LFS cohorts were reviewed and compared using Fisher's Exact test.

Results: Of 3043 individuals with LFS in the IARC/NCI database 46 (1.5%) had PC and 42/1243 (3.4%) LFS families had a member with PC. Amongst PCs with a known age of diagnosis, 2.6% and 43.2% were diagnosed prior to age 30 and 50 respectively. Across three institutional LFS cohorts, 32/329 (9.7%) individuals had a pancreatic imaging abnormality, including cysts in 20 (6.1%) and a mass in 4 (1.2%). Whole-body MRI (WBMRI) had the lowest detection rate of pancreatic abnormalities (6%) whereas endoscopic ultrasound (EUS)/MRI Abdomen (MRI Abd) had the highest (50%/20.8%, respectively). Cysts were detected more frequently with EUS/MRI Abd (33.1%/18.1%, respectively) compared to WBMRI (4.3%). Individuals older than age 50 were more likely to have a pancreatic abnormality (35.8% versus 4.7%, P<0.01) or pancreatic cyst (26.4% compared to 2.2%, P<0.001) compared to those younger than age 50.

Conclusions: PC may occur earlier in LFS compared to the general population. WBMRI identifies pancreatic abnormalities less frequently than other pancreatic cancer screening modalities in LFS. If dedicated PC screening is performed in LFS, screening should likely start prior to age 50 and use either EUS or MRI Abd.

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来源期刊

Pancreas 医学-胃肠肝病学

CiteScore

4.70

自引率

3.40%

发文量

289

审稿时长

1 months

期刊介绍： Pancreas provides a central forum for communication of original works involving both basic and clinical research on the exocrine and endocrine pancreas and their interrelationships and consequences in disease states. This multidisciplinary, international journal covers the whole spectrum of basic sciences, etiology, prevention, pathophysiology, diagnosis, and surgical and medical management of pancreatic diseases, including cancer.