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.
Divisions of *Pediatric Hematology/Oncology †Pediatric Pathology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA.
Rachael
R
Courtney
Sarangarajan
S
Ranganathan
D000306:Adrenal Cortex Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D018268:Adrenocortical Carcinoma / Q000150:complications / Q000235:genetics / Q000473:pathology*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009447:Neuroblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011379:Prognosis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53