Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers

• DOI: 10.1038/s41431-018-0170-y
• Publication Date: 2018-05-16T14:18:56Z
• Authors: Isaura Ibrahim; Babs G. Sibinga M...; Bert Bonsing; Hans Morreau; Arantza Farina Sa...; Akin Inderson; Saskia Luelmo; Shirin Feshtali; Thomas P. Potjer; Wouter de Vos tot...; Martin Wasser; Hans F. A. Vasen
• Keywords: Heterozygote; Adenocarcinoma; 3. Good health; Pancreatic Neoplasms; 03 medical and health sciences; 0302 clinical medicine; Mutation; Humans; Female; Genetic Predisposition to Disease; Cyclin-Dependent Kinase Inhibitor p16; Aged

CDKN2A-p16-Leiden mutation carriers have a substantial risk of developing pancreatic ductal adenocarcinoma (PDAC). One of the main clinical features of hereditary cancer is the development of multiple cancers. Since 2000, we have run a surveillance program for CDKN2A-p16-Leiden mutation carriers. The patients are offered a yearly MRI with optionally endoscopic ultrasound. In patients with a confirmed lesion, usually, a partial resection of the pancreas is recommended. A total of 18 PDAC (8.3%) were detected in 218 mutation carriers. In this report, we describe two CDKN2A-p16-Leiden patients with a synchronous and metachronous PDAC. Including two previously-reported cases, we identified four patients with multiple PDAC: two of 18 patients within the surveillance program (11%) and two patients with a proven CDKN2A-p16-Leiden mutation not participating in the surveillance program. In conclusion, this study demonstrated a high risk of developing multiple PDAC in CDKN2A-p16-Leiden mutation carriers. After detecting a primary tumor, it is very important to exclude the presence of a second synchronous tumor. Moreover, after a partial pancreatectomy for PDAC, close surveillance is necessary. In view of the current findings, offering a total pancreatectomy might be an appropriate option in patients with an early PDAC.