A 14-year-old boy with familial Li-Fraumeni syndrome presented with diplopia. Brain MRI revealed a right temporoparietal rim-enhancing mass. Following surgical resection and diagnosis of a gigantocellular-type glioblastoma multiforme (GBM), his family wished to avoid cytotoxic chemotherapy given the amplified risk of secondary malignancy. As such, we performed whole exome and transcriptome sequencing, which revealed germline TP53 and somatic TSC2 mutations. On completion of adjuvant radiotherapy, he was started on maintenance therapy with everolimus per recommendations from our multi-institutional brain tumour precision medicine tumour board. He has achieved a complete remission with resolution of visual symptoms and remains on everolimus therapy with concurrent electromagnetic field therapy, now 33 months from diagnosis. Our data highlight the benefit of precision medicine in children with GBM and offer insight into a targetable pathway that may be involved in similar cases.
- paediatric oncology
- cancer intervention
- CNS cancer
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Contributors AHZ: investigation, methodology, writing—original draft preparation, and writing—review and editing. KAM: resources and writing—review and editing. RM: writing—review and editing, and funding acquisition. CK: conceptualisation, supervision, writing—review and editing, project administration and funding acquisition.
Funding CK is supported by National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke grant K08-NS099427-01, the UM Department of Pediatrics Chad Carr Pediatric Brain Tumor Center, the Chad Tough Foundation, the Catching Up with Jack Foundation, the Prayers from Maria Foundation, and the U CAN-CER VIVE Foundation. The University of Michigan Peds-MiOncoSeq study was supported by grant 1UM1HG006508 from the NIH Clinical Sequencing Exploratory Research Award (private investigator: Arul Chinnaiyan, coinvestigator: Rajen Mody).
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.