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Ref Type Journal Article
PMID (31154346)
Authors Zureick AH, McFadden KA, Mody R, Koschmann C
Title Successful treatment of a TSC2-mutant glioblastoma with everolimus.
Journal Vol Issue Date Pages Journal Short Title
BMJ case reports 12 5 2019 May 31 BMJ Case Rep
URL
Abstract Text 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.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC2 R611W giant cell glioblastoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, Afinitor (everolimus) treatment with adjuvant electromagnetic field therapy resulted in complete remission ongoing 33 months after diagnosis in a patient with gigantocellular glioblastoma harboring TSC2 R611W who was previously treated with surgical resection and radiotherapy (PMID: 31154346). 31154346