CASE DESCRIPTION:
We describe the case of an 11-month-old female diagnosed with trisomy 18 and hepatoblastoma. She was born at 37 weeks gestation via cesarean section due to concern for placental insufficiency and intrauterine growth restriction. In the neonatal intensive care unit (ICU), she was found to have persistent pulmonary hypertension, a small ventricular septal defect, a moderate atrial septal defect, pulmonic stenosis and a large patent ductus arteriosus. She was also found to have congenital hydronephrosis with duplicated collecting system and imperforate anus with rectovaginal fistulae. An underlying genetic condition was strongly suspected and the diagnosis of trisomy 18 was confirmed by fluorescence in situ hybridization.
At 8 months of age she was hospitalized for two months in India and England, requiring ICU level of care for bacteremia, sepsis, and respiratory failure. Given recurrence of feeding difficulties in the context of prolonged hospitalization and multiple intubations, multiple abdominal ultrasounds (US) were performed. Her third abdominal US revealed a liver mass that measured 3.7cm x 3.6cm x 3.3cm.  Parents were told that based on imaging, this lesion was most likely benign, specifically a hemangioma. Computed tomography (CT) and serum α-fetoprotein level (AFP) were recommended but given severity of illness, further evaluation was deferred.
Three months later, upon family’s return to the United States, a repeat US was performed which demonstrated a prominent mass concerning for malignancy that replaced the majority of the left lower liver measuring 8.9cm x 4.5cm x 6.1cm. CT guided biopsy of the liver mass was performed re-demonstrating a large, exophytic hypervascular mass in the left lobe of the liver. CT chest was without distant metastatic disease. Given proximity to the middle hepatic vein, surgical resection was not possible at time of diagnosis. Pathology was consistent with pure fetal histology hepatoblastoma.  Despite favorable pathology, given unresectable tumor, patient was diagnosed with Stage III, intermediate risk disease. AFP at diagnosis was 17,657 ng/mL (Figure 1).
The patient completed neo-adjuvant chemotherapy as per the Children’s Oncology Group (COG) protocol AHEP0731 (Stratum 3, Regimen F) for two cycles using cisplatin, fluorouracil, and vincristine. After consultation with the cardiology team, doxorubicin was omitted from her treatment given her underlying cardiac abnormalities. The patient successfully underwent a left lateral hepatic sectionectomy with clean margins after two cycles of chemotherapy. After surgical resection, she received one adjuvant cycle of chemotherapy as per AHEP0731. After discussion with family, given clear surgical margins and baseline clinical fragility opted to discontinue chemotherapy after cycle 3. At her visit 3 months from the end of therapy, patient continues to do well with normal AFP level and CT chest and magnetic resonance imaging of abdomen/pelvis are without evidence of recurrent, residual or metastatic disease (Figure 1).