Hepatoblastoma associated with familial adenomatous polyposis

Introduction Hepatoblastoma is the most common type of liver cancer in children under 3 years. Although most hepatoblastomas are sporadic, they are strongly associated with genetic syndromes including familial adenomatous polyposis (FAP) [1]. Case Presentation A liver tumour was suspected in a 9-month-old female patient due to poor weight gain with her weight at the 3rd percentile (7430 g). A family history of familial adenomatous polyposis was noted. The patient was confirmed to have a mutation in the FAP gene that led to the development of hepatoblastoma. Ultrasound examination revealed an 8 cm localized nodular mass in the right lobe of the liver. Laboratory findings included mildly elevated liver enzymes (AST - 132 IU/I, GGT - 102 IU/I, LDH - 751 U/I), normocytic normochromic anaemia (Hb - 94 g/l), thrombocytosis (PLT - 836x10*9/l) and significantly elevated AFP levels (332 000 kU/I). MRI showed a large heterogenous mass occupying nearly the entire right liver lobe, measuring 12,4x8,2x8,5 cm. The mass compressed and slightly displaced the vena cava inferior to the left, compresses/overgrows the middle and right hepatic veins and the right portal vein branch. Percutaneous liver biopsy confirmed epithelial hepatoblastoma. No distal metastases were found. After evaluation of tumour spread on MRI, PRETEXT stage III was diagnosed and six courses of cisplatin chemotherapy were planned. After 4 courses of chemotherapy size of tumour shrinked to 6.1x4.7x9.1 cm and AFP to 6283.8 kU/I. Surgery was performed to remove the right lobe of the liver and gallbladder. After surgery, 2 more courses of chemotherapy were administered. After the treatment – AFP - 7,4 kU/I, condition of a patient was satisfactory, weight started to increase – at 1 year 9 months - 11,4 kg (25 ‰). Discussion The diagnosis of hepatoblastoma is based on clinical, histological, laboratory and radiology findings. The treatment of hepatoblastoma is complex: pre- and/or post-operative chemotherapy and surgery to remove the tumour [2]. Prognosis is related to AFP level, platelet count, PRETEXT stage, vascular invasion and distant metastases at the time of primary diagnosis [3]. Conclusions Congenital cancer syndromes are important factors of hepatoblastoma. Survival and complex treatment strategy depends on risk factors. With complex treatment, the 5-year survival rate is between 70% and 100% [4].