Case presentation
A 10-year-old Japanese boy presented to our department with intense abdominal pain, frequent vomiting, and hypotension (blood pressure, 76/49 mmHg). The laboratory findings were as follows: white blood cell count, 20.1 × 109/L; red blood cell count, 2.47 × 1012/L; haematocrit, 20.3%; haemoglobin, 6.8 g/dL and platelet count, 33.8 × 109/L; C-reactive protein, 0.11 mg/dL; aspartate aminotransferase, 86 U/L; alanine aminotransferase, 20 U/L; lactate dehydrogenase, 351 U/L; uretic acid, 8.0 mg/dL; alpha fetoprotein (AFP), 3615 ng/ml and protein induced by vitamin K absence-II, 1493 mAU/ml. Computed tomography (CT) scan revealed a tumour of 8.5 inches in diameter in the right hepatic lobe and massive ascites (Figure1. a, b), suggesting bleeding from a ruptured tumour. The patient undewent emergent coil embolisation of hepatic arteries of segment 5 and segment 6. After 6 days, a complete tumour resection was performed by partial hepatectomy by paediatric surgeons. Pathological examination revealed an HCC with negative margin, and the HCC cells were not identified in the ascite. Although the patient’s AFP level decreased to 56 ng/ml 45 days after the surgery, it increased again to 135 ng/ml with a small nodule at lower surface of the liver and right lung field, as seen on CT scan. Fluorine-18-fluorodeoxyglucose (FDG) positron-emission tomography (PET)-CT showed mild accumulation of FDG in the nodules. Pathological review of the ruptured tumour revealed a malignant hepatocellular tumour consisting of both HCC and hepatoblastoma (Figure 2. a). Two months after the surgery, the patient received the first course of CITA (cisplatin and pirarubicin ), consisting of 16 mg/m2/day of cisplatin div on days 1 to 5 and 30 mg/m2 /day of pirarubicin on days 2 and 3. After 2 courses of CITA, the patient’s AFP level decreased to 28 ng/ml, and CT showed no lesion. After the sixth course of CITA, AFP level decreased to 6 ng/ml. However, after the seventh course of CITA, the patient’s AFP level increased to 31 ng/ml with no lesion shown on CT and FDG PET-CT. Two months later, AFP level increased to 302 ng/ml, and CT revealed a nodule at the lower surface of the liver. The lesion was resected by paediatric surgeons, and pathological examination revealed mainly HCC (Figure 2. b). AFP level further increased and multiple lesions in the bilateral lobes of liver developed (Figure1.c,d). Finally, lenvatinib was administered and drug-eluting beads TACE with epirubicine was performed by interventional radiologists. A panel of oncogenes were tested and no actionable targets were identified though ATRX splice site 370 + 1 G >T was noted as an oncogenic mutation. The patient died as a result of hepatic failure. The total duration of clinical course was 18 months.