Contribution to the knowledge of molecular pathology and neuroimaging. Spinal astrocytoma

We present the case of a 62-year-old female patient with past medical history of breast cancer, presenting for generalized weakness, and whose multiparametric magnetic resonance imaging (MRI), including sagittal T1WI, T2WI, STIR and FAT SAT in axial and sagittal planes before and after contrast gadolinium administration, revealed a rim-enhancing, intradural and intramedullary mass in the cervical spinal cord. Histopathological analysis showed a high-grade glioblastoma-like diffuse glioma with very high Ki-67 proliferation index. Molecular analysis identified histone H3F3A p.K27M mutation, allowing a diagnosis of diffuse midline glioma, histone H3 K27M mutant, WHO grade 4. This is an aggressive diffuse glioma, very rare in older adults, and the survival of this patient was dismal. An additional PPM1D p.W427* was detected, and this mutation might have predisposed to both malignancies in this patient, underscoring the importance of molecular testing.