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

Ibrahim, I.; Mulder, B.G.S.; Bonsing, B.; Morreau, H.; Sarasqueta, A.F.; Inderson, A.; ... ; Vasen, H.F.A. (2018)

Article / Letter to editor

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.

• All authors: Ibrahim, I.; Mulder, B.G.S.; Bonsing, B.; Morreau, H.; Sarasqueta, A.F.; Inderson, A.; Luelmo, S.; Feshtali, S.; Potjer, T.P.; Cappel, W.D.T.N.; Wasser, M.; Vasen, H.F.A.
• Date: 2018-08-01
• Journal: European Journal of Human Genetics
• Volume: 26
• Issue: 8
• Pages: 1227 - 1229
• DOI: doi:10.1038/s41431-018-0170-y