A265 HILAR CHOLANGIOCARCINOMA IN A YOUNG, PREGNANT WOMAN WITH NEUROFIBROMATOSIS

Neurofibromatosis (NF) is an autosomal dominant tumor predisposition syndrome. It is associated with the development of benign and malignant tumors, including gastrointestinal neoplasms. The commonest cause of malignancy of the biliary tract is cholangiocarcinoma. Benign tumors of the biliary tract are rare, although cases of bile duct neurofibromas have been reported. The absence of specific clinical and radiographic features makes differentiating between benign and malignant bile duct tumors challenging. Describe a case of hilar cholangiocarcinoma in a pregnant woman with neurofibromatosis. Case report and literature review. A 26 year old pregnant woman (12 weeks gestational age) with type 1 NF was found to have biliary dilation on routine obstetrical ultrasound (US). On history, she described pruritus without abdominal pain, fever, or jaundice. She was not on medications. Her past medical history was significant for depression and tonsillectomy. She had no family history of malignancy. On physical examination, her vital signs were normal. She had stigmata of NF including café-au-lait spots and scalp neurofibromas. Serum ALT, ALP, and bilirubin levels were 204U/L, 281U/L and 11umol/L, respectively. CA19-9 was 20kU/L. Repeat abdominal US showed a 1.2cm mass at the bifurcation of the hepatic ducts with intrahepatic duct dilatation. On MRCP, the lesion resembled a neurofibroma. The common bile was normal at 3mm. ERCP was undertaken for tissue acquisition. There was resistance to passage of the cholangioscope despite dilation of the common bile duct with a 4mm Hurricane balloon. Cholangioscopy revealed a hilar stricture characterized by erythema and neovascularization concerning for dysplasia. Biopsies were taken using Spybite forceps and brushings were taken for cytology. A single straight plastic stent was inserted into the right posterior hepatic duct. Brushings were negative for SOX10, a stain specific for NF. Pathology demonstrated rare dysplastic cells that stained positive for p53, CK7 and showed patchy mitotic activity on Ki-67 immunohistochemistry, consistent with cholangicarcinoma. Based on these results, the patient terminated her pregnancy. Her treatment plan included portal vein embolization prior to a hepatic segmentectomy of 85% of her liver. This case highlights the diagnostic uncertainty posed by NF in the setting of an obstructive biliary lesion. While very rare, benign biliary tumors must be considered, particularly in patients with NF. The malignant nature of this patient’s lesion, surprising given her age, dramatically altered her management. An added layer of complexity was her first trimester pregnancy. The association between NF and cholangiocarcinoma has not been fully elucidated and requires further study. MRCP showing intraductal hilar obstructing lesion with secondary intrahepatic biliary dilatation. None

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