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| Ref Type | Journal Article | ||||||||||||
| PMID | (39143272) | ||||||||||||
| Authors | Kuehn JC, Metzger P, Neidert N, Matysiak U, Gräßel L, Philipp U, Bleul S, Pauli T, Falkenstein J, Bertemes H, Cysar S, Hess ME, Frey AV, Duque-Afonso J, Schorb E, Machein M, Beck J, Schnell O, von Bubnoff N, Illert AL, Peters C, Brummer T, Prinz M, Miething C, Becker H, Lassmann S, Werner M, Börries M, Duyster J, Heiland DH, Sankowski R, Scherer F | ||||||||||||
| Title | Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors. | ||||||||||||
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| Abstract Text | Despite major advances in molecular profiling and classification of primary brain tumors, personalized treatment remains limited for most patients. Here, we explored the feasibility of individual molecular profiling and the efficacy of biomarker-guided therapy for adult patients with primary brain cancers in the real-world setting within the molecular tumor board Freiburg, Germany. We analyzed genetic profiles, personalized treatment recommendations, and clinical outcomes of 102 patients with 21 brain tumor types. Alterations in the cell cycle, BRAF, and mTOR pathways most frequently led to personalized treatment recommendations. Molecularly informed therapies were recommended in 71% and implemented in 32% of patients with completed molecular diagnostics. The disease control rate following targeted treatment was 50% and the overall response rate was 30%, with a progression-free survival 2/1 ratio of at least 1.3 in 31% of patients. This study highlights the efficacy of molecularly guided treatment and the need for biomarker-stratified trials in brain cancers. | ||||||||||||
| Molecular Profile | Treatment Approach |
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| Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
|---|---|---|---|---|---|
| SMARCA4 | G1160E | missense | unknown | SMARCA4 G1160E lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1160E has been identified in sequencing studies (PMID: 29610475, PMID: 39143272), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2026). |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRAF V600E | craniopharyngioma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in a partial response and progression-free survival of 1040 days in a patient with craniopharyngioma harboring BRAF V600E (PMID: 39143272). | 39143272 |
| PTEN loss | meningioma | predicted - sensitive | Bevacizumab + Everolimus | Case Reports/Case Series | Actionable | In a clinical case study, treatment with the combination of Afinitor (everolimus) and Avastin (bevacizumab) resulted in a partial response with a progression-free survival of 382 days in a meningioma patient with PTEN loss (by IHC) (PMID: 39143272). | 39143272 |