Germline PDGFRB p.R987W pathogenic variant in two children with brain tumors

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.