INTRODUCTION:
Trisomy 18, also known as Edwards syndrome, is the second most common congenital trisomy genetic disorder after Down’s Syndrome. It is associated with multiple, often devastating, cardiac and pulmonary anomalies, other structural malformations, and developmental delays.1 Though Trisomy 18 is still frequently described as “incompatible with life,” studies have shown that if an infant with Trisomy 18 survives beyond the first weeks after birth where mortality nears 50%, that over 10% of children will survive the first year of life.2,3 With evidence demonstrating that medical and surgical interventions can further improve survival and outcomes and our ever-evolving medical capabilities, these children are expected to survive even longer still.2
Recently, there have been increasing reports of hepatoblastoma in individuals with Trisomy 18. As of 2019, there have been 46 total described cases of patients with trisomy 18 and hepatoblastoma, raising concerns about an association between the two.1,4Despite the controversies that persist surrounding aggressive interventions in patients with Trisomy 18, several patients with hepatoblastoma, including our patient have been successfully treated with chemotherapy and/or surgery resection.1,4 This report describes a patient with Trisomy 18 and Stage III, intermediate risk hepatoblastoma successfully treated with neoadjuvant chemotherapy and subsequent resection without the use of doxorubicin.