Multi-generational review of oncologic tumors in a family with TP53
mutation presenting with a pediatric patient with osteosarcoma and lung
AbstractTP53 mutation, Li-Fraumeni syndrome, is a syndrome that leads to a
hereditary cancer predisposition. Here we describe the case of a
13-year-old male who presented with osteosarcoma, family history of LFS,
who developed a second primary tumor of the lung. No other similar cases
have been reported. After this osteosarcoma diagnosis, he had
pre-operative imaging which included a PET CT Chest. This revealed a
subpleural nodule in the lung of unclear etiology. After completing
initial therapy, a repeat chest CT showed that the nodule persisted.
Pathology revealed an acinar adenocarcinoma. This tumor is not common in
pediatric LFS patients.