N68: A Multidisciplinary Approach To Familial Pancreatic Cancer Enriches The Proportion Of Patients With Pancreatic Cancer Susceptibility

R. A. Zuppardo1, A. Mannucci1, M. Reni2, M. Di Leo3, M. Grazia Patricelli4, A. Russo Raucci4, M. Falconi5, P. A. Testoni1, G. M. Cavestro1

1 – Gastroenterology and Gastrointestinal Endoscopy, Division of Experimental Oncology, Vita-Salute San Raffaele University, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy. 2 – Department of Medical Oncology, Vita-Salute San Raffaele University, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy. 3 – Humanitas Clinical and Research Center, Department og Biomedical Sciences, Humanitas University, Milan, Italy. 4 – Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy. 5 – Division of Pancreatic Surgery, Department of Surgery, Vita-Salute San Raffaele University, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy.

 

Aim: Life-time risk of pancreatic cancer (PC) is 1.3%. Familial PC (FPC) have  over 5% risk, due to family history and/or germline mutations. FPC accounts for 4-10% of all PCs, and germline mutations are detected in 5-10% of FPCs.

Method: Clinical and pathological data were retrieved during a single-session visit in gastroenterology and genetics from 2016 to 2017. FPC underwent either pancreatic endoscopic ultrasound (eUS) or magnetic resonance (MR) and Next Generation Sequencing analysis.

Results: 57FPC were evaluated; 17 had a personal diagnosis of PC.

29(50,9%) had ≥2 relatives affected, of whom ≥1 was a first-degree relative (FDR); 11(37,9%) had PC.

11(19,3%) had ≥3 relatives affected (1 had PC). 6(10,5%) had Lynch Syndrome with ≥1 FDR (1 had PC). 2(3,5%) had hereditary pancreatitis and 9(15,8%) BRCA1/2 mutation with 1 FDR affected (5 had PC).

17(29,8%) were genetically confirmed: 6 LS (35,3%), 2 PRSS1 (11,8%), 6 BRCA2 (35,3%), 1 BRCA1 (5,9%), 2 PALB2 (11,8%). 8 showed a Variant of Unknown Significance (VUS). 21(36,8%) underwent eUS, revealing 8 PC, 3 intraductal mucinous neoplasias, 1 pseudopapillary lesion. 16(28,1%) underwent MR, revealing 7 CP, 1 IPMNs, and 3 cystadenoma.

Conclusion: A multidisciplinary approach enriches the proportion of patients with genetically confirmed FPC from 5-10% to about 30% of all FPC.

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