Article
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 - 1 Nov 2023
Glanz Hannah, Damodharan Sudarshawn N, Smith-Simmer Kelcy, Helgager Jeffrey, Puccetti Diane
Abstract excerpt
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...
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