Results:
Fifty-one patients in 43 families were
enrolled, with mean age of 52 years, 35% of whom were male. Of these
patients, 31
underwent EUS and 33 MRI. EUS revealed two patients
with pancreatic cancer (one resectable, one metastatic), five with
intraductal
papillary mucinous neoplasms (IPMN), seven with
cysts, and six with parenchymal changes. Five had pancreatic surgery
(one
total pancreatectomy for pancreatic cancer, three
distal and one central pancreatectomy for pancreatic intraepithelial
neoplasia
2 and IPMN).
A total of 24 (47%) had genetic
testing (19 for BRCA1/2 mutations, 4 for CDKN2A, 1 for MLH1/MSH2) and 7 were positive for BRCA1/2
mutations. Four extrapancreatic neoplasms were found: two ovarian
cancers on prophylactic total abdominal hysterectomy and
bilateral salpingo-oophorectomy, one carcinoid, and
one papillary thyroid carcinoma. Overall, 6 (12%) of the 51 patients
had
neoplastic lesions in the pancreas and 9 (18%) had
neoplasms in any location. All were on the initial round of screening.
All patients remain alive and without complications
of screening.
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