Reference Detail

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.

Journal	Vol	Issue	Date	Pages	Journal Short Title
NPJ precision oncology	8	1	2024 Aug 14	180	NPJ Precis Oncol

URL

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.

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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
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