An autopsy case of intrahepatic cholangiocarcinoma associated with neurofibromatosis type 1 (von Recklinghausen's disease)

Abstract

A 69-year old man, who had neurofibromatosis type 1 (von Recklinghausen's disease), was referred to our hospital because of a symptom of persistent abdominal fullness. The extensive examinations revealed huge hepatic mass in the left lobe, suggesting a diagnosis of intrahepatic cholangiocarcinoma. One month later, the patient showed a rapid progress of anemia and bloody ascites suggestive of tumor rupture. Hepatic anteriography showed a large heterogeneous tumor in the left lateral lobe and transcathetel arterial embolization was performed. However, the patient died from hepato-renal failure. An autopsy revealed moderately-differentiated intrahepatic cholangiocarcinoma with necrosis and vascular invasion, metastasizing to the lungs, hilar lymph nodes, parietal pleura, right kidney, perisplenic fat, and adrenal glands. Intrahepatic cholangiocarcinoma associated with neurofibromatosis type 1 is rare.