Case Report WIN-MTB-2024001 - WIN International Molecular Tumor Board: A 55-year-old male with glioblastoma exhibiting amplifications in MDM2 and EGFR.
Wafik S El-Deiry, Sadakatsu Ikeda, Shai Magidi et al.
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Case in brief
A 55-year-old man with high-grade glioblastoma had next-generation sequencing findings that included MDM2 and EGFR amplifications and a CDKN2A frameshift mutation. After surgery, radiotherapy and chemotherapy, he was in remission while participating in a phase II trial of a PI3K/mTOR inhibitor; ketogenic diet and metformin were also part of his care. He was considering a personalized neoantigen vaccine. A molecular tumor board discussed possible options if the disease relapsed, including targeted agents and combinations, while noting concerns about resistance or hyper-progression with immune checkpoint blockade in the setting of EGFR and MDM2 alterations.
What made this case unusual
The case combines MDM2 and EGFR amplifications in glioblastoma, with the molecular tumor board considering how these alterations might inform relapse strategies and discussing reported concerns about immune checkpoint blockade in this genomic context.
Diagnostic / clinical pearl
In glioblastoma, molecular profiling can identify alterations such as MDM2 and EGFR amplifications that inform discussion of potential options if relapse occurs; proposed strategies should be distinguished from treatments already received.