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.