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

• Published in: European journal of human genetics : EJHG Vol. 26; no. 8; pp. 1227 - 1229
• Main Authors: Ibrahim, Isaura, Sibinga Mulder, Babs G, Bonsing, Bert, Morreau, Hans, Farina Sarasqueta, Arantza, Inderson, Akin, Luelmo, Saskia, Feshtali, Shirin, Potjer, Thomas P, de Vos Tot Nederveen Cappel, Wouter, Wasser, Martin, Vasen, Hans F A
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.08.2018; Springer International Publishing
• Subjects: Adenocarcinoma; Adenocarcinoma - genetics; Adenocarcinoma - pathology; Aged; Brief Communication; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Female; Genetic Predisposition to Disease; Heterozygote; Hormone replacement therapy; Humans; Magnetic resonance imaging; Markov analysis; Mutation; Pancreas; Pancreatic cancer; Pancreatic Neoplasms - genetics; Pancreatic Neoplasms - pathology; Surveillance; Ultrasound
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/s41431-018-0170-y

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.