Pediatr Dev Pathol. 2024 Dec 10:10935266241304711. doi: 10.1177/10935266241304711. Online ahead of print.
ABSTRACT
Tumors are increasingly defined by molecular alterations but approach to cases with discordant histologic and molecular features is unclear. Myxoid glioneuronal tumor (MGNT), histologically similar to dysembryoplastic neuroepithelial tumor (DNET), is characterized by dinucleotide mutations in PDGFRA gene (K385L or K385I). Here, we report PDGFRA K385L mutation in a neonatal high-grade glioma. A male neonate presented at birth with hydrocephalus. Subsequent imaging showed a large, lobulated cerebral mass. He died at day 37 of life from intracranial hemorrhage. A brain-only autopsy was performed, which showed a diffusely infiltrative hemorrhagic glial tumor with variable histology. Regions with distinct mucin pools and monomorphic oligodendroglioma-like cells were present. Elsewhere, there was little mucin and markedly atypical nuclei. Increased mitotic rate and foci of microvascular proliferation were widely present. Targeted panel sequencing found PDGFRA K385L mutation. DNA methylation studies showed a match with diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtype, RTK1 subtype with a high calibrated score. In summary, we report the occurrence of PDGFRA hotspot mutation in a neonatal high-grade glioma without distinct features of MGNT, demonstrating that this genetic alteration is not specific to MGNT. We recommend caution in classifying a tumor as MGNT solely by the presence of PDGFRA alteration.
PMID:39655782 | DOI:10.1177/10935266241304711
