Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4
Hannah Glanz1, Sudarshawn N Damodharan2, Kelcy Smith-Simmer3
1Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA.
Abstract:
The co-occurrence of multiple disease processes can pose diagnostic challenges. We report an unusual case of a patient found to have co-occurrences of an IDH1-mutant high-grade glioma along with cerebral cavernous malformations and pathogenic germline variants in PDCD10 and SMARCA4. Somatic testing was done on the tumor and identified a SMARCA4 and two TP53 variants. Within the literature, little is known about the association of high-grade gliomas with these germline variants. Such findings furthermore not only inform complex diagnoses, but have the potential to play a crucial role in the ongoing care of a patient.
