Familial Glioma in a Father and Son: Integrated Genomic and Multi-compartment Proteomic Profiling.
Giuseppe E Umana, Giusy Ciuffreda, Elena Cortese et al.
✦ AI-curated · Sources linked
Case in brief
A 60-year-old father and his 35-year-old son presented with gliomas. The father’s tumor was glioblastoma, IDH-wildtype, WHO grade 4, with an unmethylated MGMT promoter; the son’s was astrocytoma, IDH-mutant, WHO grade 3, with a methylated MGMT promoter. Proteomic profiling of tumor tissue, plasma-derived extracellular vesicles, and urine identified 1,268 proteins and approximately 200 differentially abundant proteins in each matrix. Pathway analyses showed patient-specific molecular profiles, including differences in inflammatory markers and glioma-associated proteins. Urine showed notable variation, including glycoproteins, and captured tumor-associated features less evident in plasma.
What made this case unusual
Despite the father and son sharing a familial context, their gliomas had distinct histological and molecular classifications, and proteomic analyses also showed patient-specific profiles across tissue, extracellular vesicles, and urine.
Diagnostic / clinical pearl
Familial glioma does not necessarily imply matching tumor subtype or molecular profile; integrated histological and molecular assessment can reveal distinct tumors within one family.
Why it matters
In this case, urine proteomics captured patient-specific tumor-associated features that were less evident in plasma, supporting further study of non-invasive matrices for molecular profiling.