^
14h
Heterogeneity and excitability of BRAF  V600E-induced tumors is determined by Akt/mTOR-signaling state and Trp53-loss. (PubMed, Neuro Oncol)
mTOR-signaling and Trp53-loss critically determine the biological diversity and electrical activity of BRAF  V600E-induced tumors.
Journal
|
BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53)
|
BRAF V600E • BRAF V600
20d
[VIRTUAL] Addition of DNA Methylation Profiling to GlioSeq NextGeneration Sequencing Panel for the Evaluation of Central Nervous System Tumors (AMP 2021)
Methylation analysis allowed us to establish diagnoses in certain types of CNS tumors that were negative by GlioSeq or had non-specific molecular findings. However, methylation analysis was not able to match to a known methylation class in 14% of tested CNS tumors with informative GlioSeq results. Therefore, a multifaceted approach, including both NGS and methylation analysis, is critical for the diagnosis, prognostication, and identification of therapeutic targets in CNS tumors.
Next-generation sequencing • Epigenetic controller
|
EGFR (Epidermal growth factor receptor) • FGFR3 (Fibroblast growth factor receptor 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2)
22d
Adult Ganglioglioma: A 4-patient case series with molecular profiling (SNO 2021)
MAP2K1 splicing mutations, unlike MAP2K1 in-frame deletions, have not been found in gangliogliomas. Finally, a different NTRK2 mutation ( NTRK2-TLE4 ) has been described in a pediatric ganglioglioma, but NTRK2-DST has not been found in any adult gangliogliomas.
Clinical • Tumor Mutational Burden
|
BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • KIAA1549 • TLE4 (TLE Family Member 4 Transcriptional Corepressor)
|
BRAF V600E • BRAF V600 • NTRK2 fusion • KIAA1549-BRAF fusion • BRAF fusion
|
MSK-IMPACT
1m
[VIRTUAL] Postural Hypotension Treatment in an Adolescent Patient with Ganglioglioma [BRAF v600e Mutation] Complicated by Intratumoral Hemorrhage: A Case Report (AAPMR 2021)
Midodrine may be effective in treating patients with postural hypotension in the setting of intramedullary lesion.
Clinical
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E
|
midodrine hydrochloride
2ms
Infrequent RAS mutation is not associated with specific histological phenotype in gliomas. (PubMed, BMC Cancer)
RAS mutation appears infrequent, and it is not associated with any specific histological phenotype of glioma.
Journal
|
BRAF (B-raf proto-oncogene) • KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase)
|
KRAS mutation • BRAF mutation • NRAS mutation • IDH1 mutation • KRAS exon 3 mutation
2ms
Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life. (PubMed, Clin Neuropathol)
Moreover, analogously to those affecting older children, they are IDH1-2 and H3.3K27M (when located outside midline) not-mutated while BRAFV600E mutation is typical of gangliogliomas/gangliocytomas and pleomorphic xanthoastrocytomas. High-grade astrocytomas have a more favorable prognosis compared with the same lesions occurring later in life while ependymomas have a poorer outcome.
Clinical • Journal
|
IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
|
BRAF V600E • BRAF V600 • H3.3K27M
2ms
Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF fusion
2ms
Molecular Alterations in Pediatric Low-Grade Gliomas That Led to Death. (PubMed, J Neuropathol Exp Neurol)
This study demonstrates that PLGG that led to death have diverse molecular characteristics. Location and co-occurring molecular alterations with malignant potential can predict poor outcomes.
Clinical • Journal
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • FGFR3 (Fibroblast growth factor receptor 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KIAA1549 • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
|
BRAF V600E • EGFR mutation • BRAF V600 • FGFR1 amplification • NF1 mutation • IDH1 R132H • FGFR3 fusion • FGFR1 fusion • FGFR3 amplification • FGFR1-TACC1 fusion
3ms
Low-grade epilepsy-associated neuroepithelial tumours with a prominent oligodendroglioma-like component: the diagnostic challenges. (PubMed, Neuropathol Appl Neurobiol)
Integrated histomolecular diagnosis of LEATs with a prominent oligodendroglioma-like component remains challenging. Because these tumours can be split into two major clusters of biological significance, the clinico-pathological relevance of the four types recognized by the WHO CNS5 within this spectrum of tumours is questionable.
Journal
|
BRAF (B-raf proto-oncogene) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • FGFR1 (Fibroblast growth factor receptor 1) • CD34 (CD34 molecule)
|
BRAF V600E • BRAF V600 • NTRK2 fusion • FGFR1 fusion • CD34 positive
3ms
[VIRTUAL] A Rare Case of Polymorphous Low-Grade Neuroepithelial Tumor of the Young With Focal High Grade Features (CAP 2021)
The novel finding of focal high-grade features described in this case raises the possibility of it being a more aggressive tumor. Given the extremely limited literature available about PLNTY, this case with its unusual high-grade features should help in better characterization and appropriate management of this rare entity.
Clinical
|
BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CD34 (CD34 molecule)
|
BRAF V600E • BRAF V600 • IDH1 mutation • CDKN2A deletion • CDKN2A mutation
3ms
[VIRTUAL] Unusual BRAF PRKAR2B-BRAF Fusion Ganglioglioma: A Review of 2 Cases (CAP 2021)
BRAF mutations lead to constitutive MEK-ERK signaling, promoting oncogenic transformation, and predicted to be activating. Patients with BRAF fusions have been reported to benefit from MEK inhibitors.
Clinical • Review
|
BRAF (B-raf proto-oncogene) • SYP (Synaptophysin)
|
BRAF V600E • BRAF V600 • BRAF fusion
3ms
Targeted Therapies in Rare Brain Tumours. (PubMed, Int J Mol Sci)
We will discuss options such as targeting the mechanistic target of rapamycin (mTOR) pathway in subependymal giant cells astrocytomas (SEGAs) of tuberous sclerosis and BRAF V600E mutation in rare glial (pleomorphic xanthoastrocytomas) or glioneuronal (gangliogliomas) tumours, which are a model of how specific molecular treatments can also favourably impact neurological symptoms (such as seizures) and quality of life. Moreover, we will discuss initial experiences in targeting new molecular alterations in gliomas, such as isocitrate dehydrogenase (IDH) mutations and neurotrophic tyrosine receptor kinase (NTRK) fusions, and in medulloblastomas such as the sonic hedgehog (SHH) pathway.
Review • Journal
|
BRAF (B-raf proto-oncogene) • NTRK (Neurotrophic receptor tyrosine kinase)
|
BRAF V600E • BRAF V600
3ms
Sustained Tumor Control With MAPK Inhibition in BRAF V600-Mutant Adult Glial and Glioneuronal Tumors. (PubMed, Neurology)
Our study highlights the clinical benefits of RAFi/MEKi in adult patients with BRAF-mutant GGNT, encourages the systematic screening and rechallenge in responders.
Clinical • Retrospective data • Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF mutation • BRAF V600
|
Mekinist (trametinib) • Zelboraf (vemurafenib) • Tafinlar (dabrafenib) • Cotellic (cobimetinib)
4ms
Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma. (PubMed, Brain Pathol)
Our results strongly point to activation of the MAP kinase pathway in the vast majority of GG and their molecular-genetic differentiation from the cohort of low-grade pediatric type diffuse glioma remains, however, to be further clarified. In addition, histopathologically distinct tumor components accumulated different genetic alterations suggesting collision or composite glio-neuronal GG variants.
Journal
|
BRAF (B-raf proto-oncogene) • KRAS (KRAS proto-oncogene GTPase) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KIAA1549 • CD34 (CD34 molecule) • IRS2 (Insulin receptor substrate 2)
|
BRAF V600E • KRAS mutation • BRAF V600 • CDKN2A deletion • KIAA1549-BRAF fusion • KRAS G13 • BRAF fusion
4ms
Anaplastic gangliogliomas of the spinal cord: a scoping review of the literature. (PubMed, Neurosurg Rev)
Most studies report that only the glial component of AGGs presents high-grade malignant features, with low mitotic activity in the neuronal component. We therefore suggest that, pending novel targeted therapy, AGGs should be treated as high-grade gliomas, with an aggressive treatment protocol consisting of maximal safe resection and adjuvant chemotherapy and radiotherapy.
Review • Journal
|
SYP (Synaptophysin)
6ms
[VIRTUAL] Molecular Profiling of a Ganglioglioma in the Setting of Neurofibromatosis Type 1 (AANP 2021)
Copy number changes (including copy neutral loss of heterozygosity) involving NF1 were not apparent. The observed molecular profile in this case further supports the notion that MAPK pathway activation in NF1-associated ganglioglioma is independent of BRAF alterations and more similar to NF1-associated pilocytic astrocytoma than to sporadic ganglioglioma.
BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler) • CD34 (CD34 molecule) • GFAP (Glial Fibrillary Acidic Protein) • SYP (Synaptophysin)
|
NF1 mutation • IDH1 R132H • CD34 positive
6ms
[VIRTUAL] BRAFV600E mutation in combination with loss of tumor suppressor Pten in adult Neural Stem/Progenitor Cells induces glioma formation. (EACR 2021)
Results and Discussions To understand if BRAFV600E mutation can drive gliomagenesis, we developed a mouse model in which BRAFV600E heterozygous mutation and Pten deletion are driven by the Tamoxifen-inducible Sox2-CreERT2, a deleter specifically active in NSCs of the anterior telencephalon...Upon in vitro differentiation, transformed NSCs developed toward the oligodendrocyte lineage recapitulating the oligodendroglioma phenotype observed in vivo and showed a more proliferative behavior when compared to the control Altogether these results suggest that deregulated BRAF, in a Pten null background, can drive forced NSCs differentiation towards the oligodendrocyte tumor lineage. Conclusion Our model can represent an important tool to understand the molecular mechanisms that occur in NSCs during malignant transformation and to test valid therapies for oligodendroglioma treatment.
Clinical • Combination therapy
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • SOX2
|
TP53 mutation • BRAF V600E • EGFR mutation • BRAF V600 • PTEN mutation • PTEN deletion • CDKN2A mutation
|
tamoxifen
6ms
[VIRTUAL] BRAFV600E mutation in combination with loss of tumor suppressor Pten in adult Neural Stem/Progenitor Cells induces glioma formation. (EACR 2021)
Results and Discussions To understand if BRAFV600E mutation can drive gliomagenesis, we developed a mouse model in which BRAFV600E heterozygous mutation and Pten deletion are driven by the Tamoxifen-inducible Sox2-CreERT2, a deleter specifically active in NSCs of the anterior telencephalon...Upon in vitro differentiation, transformed NSCs developed toward the oligodendrocyte lineage recapitulating the oligodendroglioma phenotype observed in vivo and showed a more proliferative behavior when compared to the control Altogether these results suggest that deregulated BRAF, in a Pten null background, can drive forced NSCs differentiation towards the oligodendrocyte tumor lineage. Conclusion Our model can represent an important tool to understand the molecular mechanisms that occur in NSCs during malignant transformation and to test valid therapies for oligodendroglioma treatment.
Clinical • Combination therapy
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • SOX2
|
TP53 mutation • BRAF V600E • EGFR mutation • BRAF V600 • PTEN mutation • PTEN deletion • CDKN2A mutation
|
tamoxifen
6ms
[VIRTUAL] BRAFV600E mutation in combination with loss of tumor suppressor Pten in adult Neural Stem/Progenitor Cells induces glioma formation. (EACR 2021)
Results and Discussions To understand if BRAFV600E mutation can drive gliomagenesis, we developed a mouse model in which BRAFV600E heterozygous mutation and Pten deletion are driven by the Tamoxifen-inducible Sox2-CreERT2, a deleter specifically active in NSCs of the anterior telencephalon...Upon in vitro differentiation, transformed NSCs developed toward the oligodendrocyte lineage recapitulating the oligodendroglioma phenotype observed in vivo and showed a more proliferative behavior when compared to the control Altogether these results suggest that deregulated BRAF, in a Pten null background, can drive forced NSCs differentiation towards the oligodendrocyte tumor lineage. Conclusion Our model can represent an important tool to understand the molecular mechanisms that occur in NSCs during malignant transformation and to test valid therapies for oligodendroglioma treatment.
Clinical • Combination therapy
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • SOX2
|
TP53 mutation • BRAF V600E • EGFR mutation • BRAF V600 • PTEN mutation • PTEN deletion • CDKN2A mutation
|
tamoxifen
6ms
[VIRTUAL] BRAFV600E mutation in combination with loss of tumor suppressor Pten in adult Neural Stem/Progenitor Cells induces glioma formation. (EACR 2021)
Results and Discussions To understand if BRAFV600E mutation can drive gliomagenesis, we developed a mouse model in which BRAFV600E heterozygous mutation and Pten deletion are driven by the Tamoxifen-inducible Sox2-CreERT2, a deleter specifically active in NSCs of the anterior telencephalon...Upon in vitro differentiation, transformed NSCs developed toward the oligodendrocyte lineage recapitulating the oligodendroglioma phenotype observed in vivo and showed a more proliferative behavior when compared to the control Altogether these results suggest that deregulated BRAF, in a Pten null background, can drive forced NSCs differentiation towards the oligodendrocyte tumor lineage. Conclusion Our model can represent an important tool to understand the molecular mechanisms that occur in NSCs during malignant transformation and to test valid therapies for oligodendroglioma treatment.
Clinical • Combination therapy
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • SOX2
|
TP53 mutation • BRAF V600E • EGFR mutation • BRAF V600 • PTEN mutation • PTEN deletion • CDKN2A mutation
|
tamoxifen
7ms
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome. (PubMed, JCO Precis Oncol)
NTRK fusions are more frequently seen in pediatric tumors than in adult tumors and involve a broader panel of fusion partners and a wider range of tumors than previously recognized. These results highlight the importance of screening for NTRK fusions as part of the tumor genomic profiling for patients with pediatric cancer.
Clinical • Clinical data • Journal
|
NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)
|
NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • ETV6-NTRK3 fusion • NTRK fusion • NTRK positive
|
Vitrakvi (larotrectinib)
7ms
Cyclin D1 expression in ganglioglioma, pleomorphic xanthoastrocytoma and pilocytic astrocytoma. (PubMed, Exp Mol Pathol)
Cyclin D1 immunohistochemistry has currently no or little role in the differential diagnosis of pilocytic astrocytoma. Its role in the differential diagnosis between PXA and giant cell glioblastoma needs to be further investigated on external series.
Journal
|
BRAF (B-raf proto-oncogene) • CCND1 (Cyclin D1)
|
BRAF V600E • BRAF V600 • CCND1 expression
7ms
Journal
|
ALK (Anaplastic lymphoma kinase)
|
ALK fusion
|
Alecensa (alectinib)
7ms
T cell numbers correlate with neuronal loss rather than with seizure activity in medial temporal lobe epilepsy. (PubMed, Epilepsia)
We here provide a detailed histopathological investigation of the involvement of T cells in various subgroups of MTLE, which suggests that T cell influx correlates to neuronal loss rather than seizure activity.
Journal
|
CD8 (cluster of differentiation 8)
8ms
[VIRTUAL] LOW GRADE NEUROEPITHELIAL TUMORS: SINGLE INSTITUTIONAL 20 YEARS EXPERIENCE (ASPHO 2021)
The combination of vincristine and carboplatin was the most frequent (3/4) used first line chemotherapy and two patients received BRAF molecular targeted therapy due to further relapse. While patients with gross total resection have an excellent tumor outcome, those with residual disease are at risk of disease progression. Disease progression/relapse was frequent when ganglioglioma was treated with conventional chemotherapy LGG protocol. With the knowledge of molecular features, this group may benefit with a different approach including upfront molecular target therapy.
Clinical
|
BRAF (B-raf proto-oncogene) • FGFR1 (Fibroblast growth factor receptor 1)
|
BRAF V600E • BRAF V600
|
carboplatin • vincristine
8ms
Lentivirus vector‑mediated genetic manipulation of oncogenic pathways induces tumor formation in rabbit brain. (PubMed, Mol Med Rep)
Despite the low frequency of tumor formation, this preliminary data provided a proof of principle that lentivirus vectors carrying oncogenes can be used for the generation of brain tumors in rabbits. Moreover, these results offer noteworthy insights into the pathogenesis of a rare brain tumor, ganglioglioma.
Preclinical • Journal
|
TP53 (Tumor protein P53) • GFAP (Glial Fibrillary Acidic Protein)
|
TP53 expression
8ms
Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis. (PubMed, J Mol Neurosci)
This meta-analysis suggested the critical role of BRAF V600E mutation in the occurrence and development of EATs. Our findings help to elucidate the progression mechanisms in EATs and develop future therapeutic strategies for EATs.
Retrospective data • Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF V600
9ms
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. (PubMed, Brain Commun)
To determine if cerebrospinal fluid cell-free DNA was brain-derived, whole-genome bisulphite sequencing was performed and brain-specific DNA methylation patterns were found to be significantly enriched (P = 0.03). Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.
Journal • Liquid biopsy
|
BRAF (B-raf proto-oncogene) • TSC1 (TSC complex subunit 1)
|
TSC1 mutation
9ms
[VIRTUAL] Dabrafenib plus trametinib in BRAF V600E-mutant high-grade (HGG) and low-grade glioma (LGG) (AACR 2021)
Dabrafenib + trametinib demonstrated promising efficacy in pts with BRAF V600E mutation-positive recurrent/refractory HGG and LGG. The safety profile was consistent with the known safety profile for other indications.
Tumor Mutational Burden
|
BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MGMT (6-O-methylguanine-DNA methyltransferase)
|
BRAF V600E • BRAF V600 • IDH1 mutation • TMB-L • MGMT promoter methylation
|
Mekinist (trametinib) • Tafinlar (dabrafenib)
9ms
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. (PubMed, Cold Spring Harb Mol Case Stud)
The combination therapy was started after the patient experienced progressive tumor growth and worsening neurological symptoms, including visual changes, headaches, and peripheral neuropathy, despite 10 months of treatment with adjuvant chemotherapy (vinblastine). The identification of BRAF alterations may assist clinicians in determining alternative targeted treatment strategies, especially considering the paucity of effective treatments for primary brain tumors and the poor prognosis associated with many central nervous system (CNS) diagnoses. Additional case studies or larger cohort reports will continue to clarify the efficacy of BRAF and/or MEK inhibitors in patients whose tumors harbor a BRAF alteration.
Clinical • Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF mutation
|
Mekinist (trametinib) • Tafinlar (dabrafenib) • vinblastine
10ms
Journal
|
BRAF (B-raf proto-oncogene)
10ms
[VIRTUAL] Comprehensive Molecular Testing Identified Targetable Novel and Rare Genomic Alterations in Brain Tumors (USCAP 2021)
Our results demonstrated the importance of thorough molecular examination of all newly diagnosed brain tumors. Similar to mutations, gene fusions can serve as oncogenic drivers in brain tumors as well as therapeutic targets. Patients with tumors that harbor specific gene fusions may be treated with emerging targeted therapies.
FGFR2 (Fibroblast growth factor receptor 2) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • MGMT (6-O-methylguanine-DNA methyltransferase) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • KIAA1549 • NTRK (Neurotrophic receptor tyrosine kinase)
|
BRAF mutation • NTRK1 fusion • NTRK2 fusion • FGFR2 fusion • KIAA1549-BRAF fusion • MGMT promoter methylation • BRAF fusion • MET fusion
|
Archer® FusionPlex® Oncology Research Kit
11ms
Low-grade developmental and epilepsy associated brain tumors: a critical update 2020. (PubMed, Acta Neuropathol Commun)
Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals.
Review • Journal
|
BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR1 (Fibroblast growth factor receptor 1) • CD34 (CD34 molecule) • PRKCA (Protein Kinase C Alpha)
|
BRAF V600E • BRAF V600 • FGFR1 mutation • FGFR1 expression
11ms
Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review. (PubMed, J Pediatr Hematol Oncol)
Panel-based next-generation sequencing showed her previously identified germline NF1 mutation and a second somatic NF1 mutation. This represents the first report of multiple primary intramedullary gangliogliomas in a child with NF1 and demonstrates how biopsy with panel-based next-generation sequencing provides potential targets for MAPK/MEK/BRAF pathway inhibitor therapy.
Clinical • Review • Journal
|
BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1)
|
NF1 mutation
11ms
Clinical • Review • Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF V600
12ms
Serum cytokines in astrocytic brain tumors: a prospective study. (PubMed, Br J Neurosurg)
High level of IL-6 and TNF-α in peripheral blood in patients of high-grade gliomas provides clue to the invasiveness of the disease which can be useful for understanding the premorbid development of tumor and perhaps extrapolating to ongoing tumor response to treatment.
Clinical • Journal
|
IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • IL10 (Interleukin 10)
1year
Conditional reprograming culture conditions facilitate growth of lower grade glioma models. (PubMed, Neuro Oncol)
These studies highlight the potential for the conditional reprogramming cell culture method to promote the growth of glial and glioneuronal tumors in vitro, in some cases enabling the establishment of long-term culture and in vivo models.
Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF V600
1year
Long-term epilepsy-associated tumors: transcriptional signatures reflect clinical course. (PubMed, Sci Rep)
Our analysis suggests distinct oncological pathomechanisms in long-term epilepsy-associated tumors. Transcriptional activation of MAPK-pathway and BRAF mutation are associated with an increased risk for tumor recurrence and malignant progression, therefore the treatment of these tumors should integrate both epileptological and oncological aspects.
Clinical • Journal
|
BRAF (B-raf proto-oncogene) • FGFR (Fibroblast Growth Factor Receptor) • STAT3 (Signal Transducer And Activator Of Transcription 3)
|
BRAF mutation
1year
[VIRTUAL] Ganglioglioma with atypical localisation in a toddler (ECP 2020)
The aforementioned immunohistochemical markers GFAP, S-100, NFT were positive, PCNA expressed in 1-2% tumor cells and IDH1 was negative. Conclusion The histopathological investigation and immunohistochemical tests confirmed the diagnosis of ganglioglioma, a rare primary benign tumor of the CNS, with atypical localization.
IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PCNA (Proliferating cell nuclear antigen) • GFAP (Glial Fibrillary Acidic Protein)
|
PCNA expression
1year
[VIRTUAL] Ganglioglioma with atypical localisation in a toddler (ECP 2020)
The aforementioned immunohistochemical markers GFAP, S-100, NFT were positive, PCNA expressed in 1-2% tumor cells and IDH1 was negative. Conclusion The histopathological investigation and immunohistochemical tests confirmed the diagnosis of ganglioglioma, a rare primary benign tumor of the CNS, with atypical localization.
IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PCNA (Proliferating cell nuclear antigen) • GFAP (Glial Fibrillary Acidic Protein)
|
PCNA expression
1year
[VIRTUAL] Ganglioglioma with atypical localisation in a toddler (ECP 2020)
The aforementioned immunohistochemical markers GFAP, S-100, NFT were positive, PCNA expressed in 1-2% tumor cells and IDH1 was negative. Conclusion The histopathological investigation and immunohistochemical tests confirmed the diagnosis of ganglioglioma, a rare primary benign tumor of the CNS, with atypical localization.
IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PCNA (Proliferating cell nuclear antigen) • GFAP (Glial Fibrillary Acidic Protein)
|
PCNA expression
1year
Intramedullary spinal cord ganglioglioma: Case report and comparative literature review. (PubMed, Neurocirugia (Astur))
ISCGGs are common in the pediatric population and require strong suspicion for proper diagnosis and treatment, as the risk of recurrence of ISCGGs is 3 times greater than that of supratentorial gangliogliomas.
Clinical • Review • Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF mutation
1year
[VIRTUAL] BRAF mutation is an early event in the evolution of a subset of glioblastomas and is associated with increased PD-L1 expression (SNO 2020)
BRAF-mutated glioblastoma were 3x more likely to express PD-L1 than BRAF-wild-type glioblastoma. We observed no differences in BRAF V600E clonality in BRAF-mutated glioblastoma compared to BRAF-mutated PXA, PA, ganglioglioma, and glioneuronal tumors, suggesting BRAF mutation is an initiating event in the clonal evolution of a subset of glioblastoma. There is rationale to evaluate combined BRAF inhibition with checkpoint inhibition in BRAF-mutated glioblastoma, potentially synergizing the complete response profile of the former with the durable response profile of the latter.
PD(L)-1 Biomarker • IO biomarker
|
BRAF (B-raf proto-oncogene) • PD-L1 (Programmed death ligand 1) • MGMT (6-O-methylguanine-DNA methyltransferase) • KIAA1549
|
PD-L1 expression • BRAF V600E • BRAF mutation • BRAF V600 • MGMT promoter methylation • BRAF fusion
|
VENTANA PD-L1 (SP142) Assay
1year
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. (PubMed, Mod Pathol)
We conclude that SEGAs have an extremely low somatic mutation rate, suggesting that TSC1/TSC2 loss is sufficient to drive tumor growth. The unique and highly expressed SEGA-specific TFs likely reflect the neuroepithelial cell of origin, and may also contribute to the transcriptional and epigenetic state that enables SEGA growth following two-hit loss of TSC1 or TSC2 and mTORC1 activation.
Journal • Gene Expression Profile
|
TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1)
|
TSC1 mutation • TSC2 mutation
1year
[VIRTUAL] Molecular Immunohistochemical Profile of Angiocentric Glioma (CAP 2020)
Many molecular markers that are characteristically encountered in other low-grade tumors, such as diffuse astrocytomas (ATRX loss, p53 positive), low-grade oligodendrogliomas and diffuse astrocytomas (IDH-1 mutated), pilocytic astrocytomas and gangliogliomas (BRAF V600E mutated), and diffuse midline glioma (H3K27M mutated), are not present in angiocentric glioma, potentially aiding in avoiding misdiagnoses. Ki-67 labeling indices are low in most cases.
BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
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BRAF V600E • BRAF V600 • IDH1 mutation • IDH1 R132H
1year
MEK inhibition with trametinib is a successful therapy in ganglioglioma. (PubMed, Clin Case Rep Rev)
However, there remains a subset of ganglioglioma that do not contain a known mutation in the MAPK pathway and thus have not been targeted with MEK inhibition therapy. Here, we present a young adult ganglioglioma patient without identified MAPK pathway activation mutations who demonstrated a significant and sustained response to MEK inhibition with trametinib.
Journal
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF V600
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Mekinist (trametinib)
1year
Gangliogliomas in the pediatric population. (PubMed, Childs Nerv Syst)
Gangliogliomas are typically grade I tumors that occasionally affect children. They classically localize in the cerebral hemisphere but may involve deep structures like the basal ganglia, brain stem, and cerebellum, which seems to be particularly frequent in the pediatric population, implying further challenge to achieve adequate oncological control with surgery as the only treatment modality. Although most cases in which GTR could not be performed remained stable over the follow-up, significant progression of the tumor remains was observed in some patients. BRAF inhibitors should be considered as a feasible treatment option in this setting.
Clinical • Journal
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF V600
over1year
Detection of BRAF V600E Mutation in Ganglioglioma and Pilocytic Astrocytoma by Immunohistochemistry and Real-Time PCR-Based Idylla Test. (PubMed, Dis Markers)
"This included 2 cases of GG and 5 cases of PA. Our study found that BRAF V600E mutations are moderately frequent in PA and GG and that for these tumor entities, IHC VE1 is suitable for screening purposes, but all negative, equivocal, and weak positive cases should be further tested with molecular biology techniques, of which the Idylla system seems to be a promising tool."
Journal
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF V600
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Idylla™ BRAF Mutation Test • VENTANA anti-BRAF V600E (VE1) Mouse Monoclonal Primary Antibody
over1year
Cells with ganglionic differentiation frequently stain for VE1 antibody: a potential pitfall. (PubMed, Brain Tumor Pathol)
This false positive staining may serve as an important confounder in the interpretation of VE1 immunoreactivity with major therapeutic implication. It is important to confirm the presence of BRAF mutation by DNA-based method, especially in tumor entities not known to, or rarely harbor such mutations.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF mutation • KIAA1549-BRAF fusion • BRAF fusion
over1year
A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2. (PubMed, Brain Tumor Pathol)
Finally, a diagnosis of oligodendroglioma with gangliocytic differentiation was made. IDH1/2 molecular test would be basic and essential diagnostic tool in central nervous system tumor of young patients.
Clinical • Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD34 (CD34 molecule)
over1year
[VIRTUAL] “UNIQUE TREATMENT FOR UNIQUE PATIENTS”: MOLECULAR TARGETED THERAPIES IN PEDIATRIC ONCOLOGY (SIOP 2020)
A patient with a ganglioglioma received started dabrafenib based in the BRAF mutation found. A patient diagnosed of epitelioid sarcoma started pazopanib based in VEGFR amplification found. Dasatinib was used in a patient with a high grade glioma with a PDGFRA gene amplification. Palbociclib was used in a patient with a pinealoblastoma and in a patient with osteosarcoma who presented alteration of the CDKN2A gene. Conclusions Molecular studies that allow select targeted therapy are very promising in pediatric oncology. However, it is essential to personalize the specific study and technique to optimize the results.
Clinical
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BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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BRAF mutation • EGFR amplification
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dasatinib • Tafinlar (dabrafenib) • Ibrance (palbociclib) • Votrient (pazopanib)
over1year
[VIRTUAL] UNIQUE BIOLOGICAL CHARACTERISTICS OF RADIATION-INDUCED GLIOMAS (SIOP 2020)
Conclusions Our data shows that most RIGs are midline IDH-wild type glioblastomas with poor prognosis that are biologically different from primary diffuse midline gliomas. PDGFRA amplifications are potentially targetable by kinase inhibitors in order to improve prognosis of these patients.
BRAF (B-raf proto-oncogene) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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BRAF V600E • BRAF V600
over1year
[VIRTUAL] Oncogenic fusions in CNS gliomas assessed by next generation sequencing: The real-world experience (ESMO 2020)
Legal entity responsible for the study: The authors. Funding: Supported by Charles University Research Fund (Progres Q39) and MH CZ-DRO (University Hospital Plzen-FNPl, 00669806).
Clinical • Real-World Evidence • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • TACC3 (Transforming acidic coiled-coil containing protein 3) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • KIAA1549 • EWSR1 (EWS RNA Binding Protein 1)
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ALK rearrangement • FGFR2 fusion • ALK fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR fusion • FGFR1 fusion • MET fusion • IKZF1 deletion + PAX5 deletion • KIT fusion
over1year
[VIRTUAL] Vemurafenib in non-melanoma V600 and non-V600 BRAF mutated cancers: Results of the AcSé basket trial (ESMO 2020)
Funding: Foundation ARC; Institut National du Cancer; UNICANCER; Roche. Clinical trial identification: NCT02304809.
Pan tumor
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF mutation
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Zelboraf (vemurafenib)
over1year
Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma (clinicaltrials.gov)
P2, N=74, Recruiting, St. Jude Children's Research Hospital | Active, not recruiting --> Recruiting
Enrollment open
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BRAF (B-raf proto-oncogene)
over1year
Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma (clinicaltrials.gov)
P2, N=74, Active, not recruiting, St. Jude Children's Research Hospital | Recruiting --> Active, not recruiting
Enrollment closed
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BRAF (B-raf proto-oncogene)