Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery(2023)

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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.
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Key words
High-grade glioma,IDH1,Cavernous malformations,SMARCA4,Genetic variants
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