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

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 3 institutional LFS cohorts were reviewed and compared using the Fisher 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. Among PCs with a known age of diagnosis, 2.6% and 43.2% were diagnosed before age 30 and 50, respectively. Across 3 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% and 20.8%, respectively). Cysts were detected more frequently with EUS/MRI Abd (33.1% and 18.1%, respectively) compared with WBMRI (4.3%). Individuals older than age 50 were more likely to have a pancreatic abnormality (35.8% vs. 4.7%, P <0.01) or pancreatic cyst (26.4% vs. 2.2%, P <0.001) compared with those younger than age 50.

CONCLUSIONS

PC may occur earlier in LFS compared with 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 before age 50 and use either EUS or MRI Abd.