GASTROENTEROLOGY 1997;112:2104 – 2107 Association Between Pancreatic Cystadenocarcinoma, Malignant Liver Cysts, and Polycystic Disease of the Kidney YARON NIV,* CHANA TURANI, ‡ ERNESTO KAHAN, § and GERALD M. FRASER* Departments of *Gastroenterology and § Family Medicine, Rabin Medical Center, Beilinson Campus, Tel-Aviv University, Sackler School of Medicine, Petach-Tikva; and ‡ Department of Pathology, Rebecca Sieff Hospital, Safed, Israel ADPKD has not been described previously in the English Polycystic kidney disease is an autosomal dominant disease that may be associated with cystic disease of medical literature. the liver. In women, the cysts may develop early and be more troublesome than in men. Cystadenocarcinoma of Case Report the pancreas is uncommon, comprising 1% of primary The patient was a 68-year-old unmarried woman who pancreatic malignancies. This case report is the first was transferred to our institution because of severe abdominal to describe a familial association between polycystic pain and jaundice. The patient’s past medical history was perti- kidney disease and cystadenocarcinoma of the pan- nent for arterial hypertension and ADPKD. In the 6-week creas and liver in the English medical literature. A pa- period before admission, she complained of epigastric pain and tient with autosomal dominant polycystic kidney dis- abdominal distention and had lost 6 kg in weight. In the 3- ease (ADPKD) and multiple hepatic cysts developed week period before admission, her urine darkened and she cystadenocarcinoma of the pancreas with multiple ma- became jaundiced and started to itch. Physical examination lignant liver cysts. The patient’s mother, sister, and showed a temperature of 37.5°C and a firm liver with a 20- niece had ADPKD, and the patient’s sister also died of cm span and palpable 8 cm below the costal margin. There pancreatic cystadenocarcinoma. We believe that the was no splenomegaly, ascites, or other stigmata of chronic liver development of these two disease entities in which disease. Admission laboratory studies showed abnormal liver the primary pathology is cyst formation has a genetic enzyme values: aspartate transaminase of 249 IU/L, alanine association. transaminase of 232 IU/L, alkaline phosphatase of 613 IU/L (normal, õ115 IU/L), and g-glutamyl transpeptidase of 409 IU/L. Total bilirubin level was 1.2 mg/dL. Serological tests P for hepatitis A, B, and C were negative. Carcinoembryonic antigen was 2297 ng/mL, and CA 19.9 was 162.2 ng/mL with olycystic liver disease is observed in association with autosomal dominant polycystic kidney disease a normal a-fetoprotein. Abdominal ultrasonography showed a (ADPKD). 1–5 The gene for ADPKD-1 is the most com- cystic mass in the pancreatic tail and polycystic disease of the mon, accounting for 85% of cases, and is located on liver and left kidney. Computerized tomographic (CT) scan of chromosome 16p between the flanking markers D16S84 the upper portion of the abdomen showed an enlarged liver and D16S125. This region is 750 kilobases long and has filled with well-marginated areas that had an absorption den- been cloned. 6 The gene for ADPKD-2 has been assigned sity equivalent to water, pathognomonic of cysts (Figure 1). to chromosome 4, and the location of the gene for CT-guided cytological aspiration of one of the liver cysts re- ADPKD-3 in unknown. Hepatic cysts usually develop vealed malignant epithelial cells (Figure 2). After a downhill later than the renal cysts and cause minimal symptoms. course of 24 days, bilirubin level increased to 54.6 mg/dL, However, in women, the cystic disease of the liver may pruritus and abdominal pain increased, and the patient died, develop earlier and become symptomatic. 3–5 The liver with a clinical picture of hepatic coma. At autopsy there was cysts are believed to be the result of dilatation of biliary a large mass in the tail of the pancreas that histologically proved to be a cystadenocarcinoma (Figure 3). Multiple cysts hamartomas similar to the process that causes cysts in were evident on the surface of the liver. Microscopic examina- the kidney. tion showed numerous cysts, lined by cuboidal epithelium Cystadenocarcinoma of the pancreas is an uncommon similar to the cells of the biliary tract, with malignant transfor- tumor that accounts for only 1% of primary pancreatic mation (Figure 4). malignancies. 7–12 It arises by malignant transformation of a cystadenoma, and 82% occur in women with an Abbreviations in this paper: ADPKD, autosomal dominant polycys- average age of 55 years. 7 Pancreatic cysts occur in 5% – tic kidney disease; CT, computerized tomography. 10% of patients with ADPKD, although a familial asso-  1997 by the American Gastroenterological Association 0016-5085/97/$3.00 ciation between cystadenocarcinoma of the pancreas and / 5e1d$$0034 05-12-97 08:04:43 gasa WBS-Gastro