Pancreas · 2025
Pancreatic Cancer Risk and Screening Outcomes in Li-Fraumeni Syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
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Fernandes Conrad J, Du Yun K, Naumer Anne, Kagami Laura A, Le Anh, Good Madeline, Duvall Melani, Powers Jacquelyn, Zelley Kristin, Maese Luke D, MacFarland Suzanne, Kohlmann Wendy, Maxwell Kara N, Katona Bryson W
Аннотация
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.
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.