Simultaneous Adrenocortical Carcinoma and Neuroblastoma in an Infant With a Novel Germline p53 Mutation

We present an infant with 2 simultaneous, but histologically distinct tumors with a novel germline p53 mutation. The child was found to have a paraspinal neuroblastoma, a concurrent adrenal cortical carcinoma, and an I162F p53 gene mutation. We review the associations of germline p53 mutations (or Li-Fraumeni syndrome) with both tumor types and the current research in similar germline p53 mutations. Finally, we discuss the multiple ways in which our patient is unique including the paucity of cases with simultaneous but histologically unrelated tumors and the fact that our patient is the first reported case of an I162F germline p53 mutation.