Type IV cholangiocellular carcinoma in a patient with neurofibromatosis Type 1

Abstract

Background: Neurofibromatosis type 1 is an inherited disease of autosomal dominant type. Although risk of malignancy is much more than normal population, cholangiocellular carcinoma is not a common type of malignancy in these patients. Methods: We report a patient with NF type 1 and cholangiocellular carcinoma. Results: Thirty one years old male patient admitted to clinic with the complaint of back pain, jaundice and pruritis. On physical examination there was icterus and too many neurofibromas and cafe au lait spots. In laboratory evluation, liver enzymes and cholestatic markers were eleveated and total and conjugated bilirubin levels were 16 and 14 mg/dl respectively. Magnetic resonance imaging revealed us dilated intrahepatic biliary ducts and a mass located in klatskin point. The tumor was extending to both left and right common hepatic ducts (type IV Klatskin tumor). Right anterior duct was totally invased by tumor and right posterior duct was intact just at the confluence of right posterior and right anterior duct. With these findings we planned percutaneous transhepaitc biliary drainage. After bilirubin levels achieved below 3 mg/dl value, we performed extended left hepatic lobectomy and qaudate lobectomy. Conclusion: We conclude that cholangicellular carcinoma must be kept in mind as an entity in patients with neurofibromatosis type 1. According to our knowledge, this is the second case of co-occurence of neurofibromatosis type 1 and cholangiocellular carcinoma reported in english literature.