A syndrome of hereditary pancreatic adenocarcinoma and cysts of the liver and kidneys

Abstract

Pancreatic adenocarcinoma is the fifth leading cause of cancer death in developed countries. Several family and population studies have suggested that there is a genetic predisposition in about 10% of cases. Despite this, pedigrees showing a definite Mendelian inheritance pattern are quite rare. Recently, a family came to our attention with several cases of pancreatic adenocarcinoma. A detailed family medical history was obtained from the index patient. Medical records, including death certificates, histopathology, radiology, and laboratory reports from several family members were reviewed. Computerized tomography scans and CA19-9 serum assays were performed on selected family members. The family seems to have a syndrome of autosomal dominant adenocarcinoma of the pancreas, accompanied by multiple cysts of the liver and kidneys. Affected family members without pancreatic cancer have elevated serum CA19-9 levels. This seems to be a previously undescribed syndrome. The family may be carrying a tumor suppressor gene mutation specific for pancreatic adenocarcinoma.