Abstract
Platelet-Derived Growth Factor Receptor Beta (PDGFRB) is critically
implicated in development. Germline pathogenic variants (GPVs) in
PDGFRB result in several distinct inherited syndromes including
primary familial brain calcifications (PFBC) and infantile
myofibromatosis. To date, GPVs in PDGFRB have not been identified
in children with brain tumors. Here, we describe the clinicopathological
features of a 9-year-old male with a medulloblastoma and an 11-year-old
female with a glioma. Sequencing of the blood and tumor samples revealed
the same PDGFRB c.2959C>T (p. Arg987Trp) GPV in both
children. Additional fusion genes DCTN1-ALK and TRIM24-MET were also
identified in the patients’ tumors through RNAseq.