Li-Fraumeni syndrome: Adrenal cortical tumor in a newborn followed by a choroid plexus tumor

Abstract

Adrenocortical tumors (ACTs) are rare in children, comprising <0.2% of all pediatric neoplasms and <6% of pediatric adrenal tumors. We report a case of a neonate who had decreased urine output within the first 3 days of life and was incidentally found to have a retroperitoneal mass, which was resected at age 1 month. Pathology identified an adrenocortical tumor indeterminate for malignancy according to Wieneke's criteria. She re-presented at age five months with altered mental status, vomiting, anorexia, hypertension, and bradycardia. She was found to have a poorly differentiated choroid plexus carcinoma. She underwent resection and ventriculoperitoneal shunt placement for ongoing hydrocephalus. She is doing well after five rounds of chemotherapy (per HEART II) and autologous stem cell transplantation. Genetic testing was positive for TP53 tumor suppressor gene mutation. ACTs in neonates are highly concerning for a TP53 mutation and should prompt genetic testing, even if there is no obvious family history of cancer. Keywords: Adrenal cortical tumor, Choroid plexus carcinoma, TP53, Li-Fraumeni syndrom