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BIOMARKER:

KIAA1549-BRAF fusion

i
Other names: KIAA1549, UPF0606 Protein KIAA1549, RP86, BRAF, B-raf proto-oncogene, B-raf proto-oncogene, Serine/threonine kinase, V-Raf murine sarcoma viral oncogene homolog B, Serine/threonine-protein kinase B-Raf, Proto-oncogene B-Raf, BRAF1, RAFB1, B-raf proto-oncogene Serine/threonine-protein kinase, Murine sarcoma viral (V-Raf) oncogene homolog B1, B-raf serine/threonine-protein, 94 KDa B-raf protein, B-RAF1
Entrez ID:
8d
The potential of liquid biopsy for detection of the KIAA1549-BRAF fusion in circulating tumor DNA from children with pilocytic astrocytoma. (PubMed, Neurooncol Adv)
While CNV analysis of CSF samples from LGGs still has some limitations, it has the potential to serve as a valuable complementary tool. Furthermore, it can also be multiplexed with other aberrations, for example, to the BRAF V600 test, to provide important insights into the molecular characteristics of LGGs.
Journal • Liquid biopsy • Circulating tumor DNA • Biopsy
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BRAF (B-raf proto-oncogene) • FGFR1 (Fibroblast growth factor receptor 1) • KIAA1549
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BRAF V600E • BRAF V600 • FGFR1 mutation • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion
24d
LOGGIC/FIREFLY-2: a phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating RAF alteration. (PubMed, BMC Cancer)
The promising tovorafenib activity data, CNS-penetration properties, strong scientific rationale combined with the manageable tolerability and safety profile seen in patients with pLGG led to the SIOPe-BTG-LGG working group to nominate tovorafenib for comparison with SoC chemotherapy in this first-line phase 3 trial. The efficacy, safety, and functional response data generated from the trial may define a new SoC treatment for newly diagnosed pLGG.
P3 data • Journal
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KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion
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Mekinist (trametinib) • Tafinlar (dabrafenib) • tovorafenib (DAY101)
2ms
Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients. (PubMed, J Clin Pathol)
The study provided insights into MAPK-altered gliomas in Kuwait highlighting the differences among paediatric and adult patients and providing a framework for planning therapeutic polices.
Journal
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BRAF (B-raf proto-oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NF1 (Neurofibromin 1) • KIAA1549 • KANK1 (KN Motif And Ankyrin Repeat Domains 1) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
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BRAF V600E • NTRK2 fusion • NF1 mutation • ROS1 fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • BRAF amplification
2ms
Treatment evaluation by volumetric segmentation in pediatric optic pathway glioma: evaluation of the effect of bevacizumab on intra-tumor components. (PubMed, J Neurooncol)
Treatment with BVZ of progressive pediatric OPGs leads to a decrease of both total tumor volume and cystic volume for the majority of OPGs with emphasis on the first three months. NF1 and KIAA1549-BRAF fusion related OPGs showed a different (early) treatment effect regarding the tumor enhancing component on MRI, which did not correlate with tumor volume changes. Future research is necessary to further evaluate these findings and its relevance to clinical outcome parameters.
Journal
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
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Avastin (bevacizumab)
2ms
Molecular refinement of pilocytic astrocytoma in adult patients. (PubMed, Neuropathol Appl Neurobiol)
A particularly high fraction of adult tumours with histological features of PA do not match current PA methylation classes, indicating ambiguous histology and an urgent need for molecular profiling. Moreover, even in adult PAs with a match to a PA methylation class, the distribution of genetic drivers differs significantly from their paediatric counterparts (p<0.01).
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
3ms
Pilocytic astrocytoma in adults: Histopathological, immunohistochemical and molecular study with clinical association. (PubMed, Pathol Res Pract)
This is the first Brazilian study that aimed to investigate possible genetic alterations in the BRAF gene in pilocytic astrocytomas, specifically in adults. Only 1 patient died, but due to operative complications and not the disease itself, suggesting a good evolution of these individuals.
Journal
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KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion
3ms
Everolimus for Children With Recurrent or Progressive Low-Grade Glioma: Results From the Phase II PNOC001 Trial. (PubMed, J Clin Oncol)
Everolimus is a well-tolerated therapy for progressive/recurrent pLGGs. Rare/novel KIAA1549::BRAF fusion breakpoints may define biomarkers for progressive disease and should be assessed in future clinical trials.
P2 data • Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
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everolimus
4ms
A rare case of exophytic pilocytic astrocytoma diagnosed via molecular testing (SNO 2023)
This is a rare case of an exophytic pilocytic astrocytoma in which the tumor’s atypical histologic and radiographic appearance increased the likelihood of diagnostic errors. This case illustrates the clinical importance of utilizing methylation array profiling and next-generation sequencing to confirm a diagnosis.
Clinical
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion • IDH wild-type
4ms
Rare and novel KIAA1549-BRAF fusion breakpoints predict poor clinical outcome for patients with recurrent or progressive pediatric low-grade glioma: phase II PNOC001 trial results. (SNO 2023)
Objectives: PNOC001 sought to estimate progression-free survival (PFS) associated with everolimus for progressive/recurrent pediatric low-grade glioma (pLGG) and to determine if activated PI3K/AKT/mTOR pathway as measured by positive phosphorylated-ribosomal protein S6 (p-RPS6) was associated with response... Rare/novel KIAA1549-BRAF fusion breakpoints are more frequent in supratentorial midline pLGGs and define independent genomic risk factors for disease progression/recurrence. Our results indicate that future clinical trials must interrogate and define KIAA1549-BRAF fusion breakpoints for informative results and conclusions.
Clinical • Clinical data • P2 data
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
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everolimus
5ms
B Mek Inhibitors In Pediatric Recurrent Symptomatic Unresectable Low-Grade Gliomas Harboring Mapk Alteration: A Single Center Experience (EANO 2023)
MEKi, selumetinib and trametinib, represent promising strategies in children with recurrent/progressive LGGs harboring MAPK alterations. In our small series, the treatment was effective and well tolerable in patients with localized disease and without other risk factors. The most common toxicities were CPK elevation and rash.
Clinical
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • KIAA1549
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BRAF mutation • RAS mutation • KIAA1549-BRAF fusion • BRAF fusion • MAP2K1 mutation
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Mekinist (trametinib) • Koselugo (selumetinib)
5ms
Radiomic features from multiparametric magnetic resonance imaging predict molecular subgroups of pediatric low-grade gliomas. (PubMed, BMC Cancer)
The current study demonstrates that MRI radiomics is able to predict molecular subgroups of PLGGs and KIAA1549-BRAF fusion with satisfying sensitivity.
Journal • MRI
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
6ms
The integrated genomic and epigenomic landscape of gangliogliomas - retrospective analysis of a single-centre case series (ECP 2023)
One case presented with concerning copy number changes and TERT promoter mutation, raising the possibility of glioblastoma. Further studies regarding the biological behaviour of these tumours are needed.
Retrospective data
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • TERT (Telomerase Reverse Transcriptase) • KIAA1549 • SHTN1 (Shootin 1)
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BRAF V600E • KRAS mutation • BRAF V600 • NTRK2 fusion • FGFR2 mutation • BRAF wild-type • FGFR2 fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR3 fusion • TERT mutation • TERT promoter mutation • KRAS Q61K
7ms
Pathophysiological evaluation of pilocytic astrocytoma in adults: Histopathological and immunohistochemical analysis. (PubMed, Pathol Res Pract)
Histopathological analysis associated with BRAF immunostaining is of paramount importance as a diagnostic method in these cases. However, future molecular studies will be necessary both for a better understanding of the aggressiveness and prognostic of this tumor and for research involving specific therapies for pilocytic astrocytoma in adults.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion
7ms
Targetable gene fusions and other alterations in central nervous system tumors assessed by RNA and DNA-based next-generation sequencing (ESMO 2023)
Conclusions The combination of RNA- and DNA-based NGS provides information about molecular alterations for the management of patients with CNS tumors. Those with actionable gene fusions or other alterations may benefit from target therapy, especially in the setting of limited choice of treatments.
Next-generation sequencing
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BRAF (B-raf proto-oncogene) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KIAA1549 • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1) • RELA (RELA Proto-Oncogene) • ZFTA (Zinc Finger Translocation Associated)
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CDKN2A deletion • CDKN2A mutation • KIAA1549-BRAF fusion • FGFR1 fusion • MET fusion • SETD2 mutation
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OncoScreen Plus®
7ms
A phase II study to explore the efficacy and safety of FCN-159 in recurrent or progressive pediatric low-grade glioma (pLGG) with MAPK pathway-activated (ESMO 2023)
FCN-159 is well tolerated and easily manageable, without new safety signal observed. Long-term efficacy and safety follow-up are ongoing.
Clinical • P2 data
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion
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FCN-159
7ms
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors. (PubMed, Neurooncol Adv)
This study demonstrates the feasibility of employing this platform in routine clinical care in upfront diagnostic and monitoring settings. Future studies are required to determine the utility of this approach for assessing response to therapy and long-term surveillance.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
8ms
T2-FLAIR Mismatch Sign in Pediatric Low-Grade Glioma. (PubMed, AJNR Am J Neuroradiol)
The T2-FLAIR mismatch sign was not observed in the common molecular alterations, BRAF p.V600E-mutated and KIAA1549-BRAF fused pediatric low-grade gliomas, while it was encountered in pediatric low-grade gliomas with rare pediatric molecular alterations.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion
9ms
Fusion Detection in Primary Neoplasms of the CNS Using the TSO500 NGS RNA/DNA Hybrid Panel (AANP 2023)
In addition to common partners (e.g. KIAA1549 for BRAF) we detected less common partners to BRAF including GTF21 as well as less common partners for MET and NTRK2 fusions in glioma. Future studies are needed to determine the full diagnostic utility and therapeutic implications of expanded fusion detection.
Next-generation sequencing
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BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • TACC3 (Transforming acidic coiled-coil containing protein 3) • KIAA1549 • CAPZA2 (Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2) • SHTN1 (Shootin 1) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
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NTRK2 fusion • FGFR2 fusion • KIAA1549-BRAF fusion • FGFR1 fusion • FGFR3 fusion • QKI-RAF1 fusion
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TruSight Oncology 500 Assay
9ms
Adult pilocytic astrocytoma with rare ERC2::RAF1 fusion (AANP 2023)
The rare ERC2::RAF1 fusion, likely representing an activating MAPK pathway oncogenic driver, has been reported in gangliogliomas, but to our knowledge this is the first report in a pilocytic astrocytoma. An association between ERC2::RAF1 fusions and factor V Leiden mutation in pilocytic astrocytomas remains to be established.
Clinical
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BRAF (B-raf proto-oncogene) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • KIAA1549 • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
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KIAA1549-BRAF fusion • BRAF fusion
9ms
Routine Comprehensive Solid and Fusion Genetic Profiling Uncovers Novel Fusions in Pediatric and Young Adult Brain Tumors (AANP 2023)
Conclusions We conclude Next Generation Sequencing performed as part of the clinical workup can identify novel/rare fusions. While the biologic and prognostic implications of these alterations are uncertain, the identification of novel fusions expands our knowledge of genetic signatures associated with both known and previously undescribed tumor entities and may offer therapeutic targets for future treatment.
Clinical
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BRAF (B-raf proto-oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR3 (Fibroblast growth factor receptor 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • KIF5B (Kinesin Family Member 5B) • KIAA1549 • TPM3 (Tropomyosin 3) • BRD4 (Bromodomain Containing 4)
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NTRK1 fusion • NTRK2 fusion • KIAA1549-BRAF fusion • FGFR3 fusion
9ms
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours. (PubMed, Cancer Genet)
Overall, the combination of laboratory methods yielded key information for tumor classification. Thus, even small studies of these uncommon tumor types may yield new genetic features and possible new subtypes that warrant future investigations.
Journal
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BRAF (B-raf proto-oncogene) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • STRN (Striatin) • KIAA1549
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NTRK2 fusion • KIAA1549-BRAF fusion • BRAF fusion
10ms
Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma. (PubMed, Neurooncol Adv)
Despite the morphologic similarities to pilocytic astrocytoma and the lack of oligodendroglial/neuronal components or leptomeningeal dissemination, the molecular profile was definitive in classifying the tumor as DLGNT. This case highlights the importance of molecular and genetic testing in the characterization of pediatric central nervous system tumors.
Journal
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BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • KIAA1549
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BRAF mutation • IDH1 mutation • IDH1 mutation + Chr del(1p) + Chr del(19q) • KIAA1549-BRAF fusion • BRAF fusion
10ms
Update on quality assurance in neuropathology: Summary of the round robin trials on TERT promoter mutation, H3-3A mutation, 1p/19q codeletion, and KIAA1549::BRAF fusion testing in Germany in 2020 and 2021. (PubMed, Clin Neuropathol)
In this update, we report on these novel round robin trials. In summary, success rates in all four trials ranged from 75 to 96%, arguing for an overall high quality level in the field of molecular neuropathological diagnostics.
Journal
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BRAF (B-raf proto-oncogene) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • KIAA1549 • H3-3A (H3.3 Histone A) • H3F3A (H3 Histone Family Member 3A)
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BRAF mutation • MGMT promoter methylation • KIAA1549-BRAF fusion • BRAF fusion • TERT mutation • IDH wild-type • TERT promoter mutation
10ms
LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. (PubMed, Neuro Oncol)
The addition of RNA-Seq to current diagnostic methods improves diagnostic accuracy, making precision oncology treatments (MEKi/RAFi/ERKi/NTRKi/FGFRi/ROSi) more accessible. We propose to include RNA-Seq as part of routine diagnostics for all pLGG patients, especially when no common pLGG alteration was identified.
Journal
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BRAF (B-raf proto-oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • FGFR1 (Fibroblast growth factor receptor 1) • KIAA1549 • EWSR1 (EWS RNA Binding Protein 1) • TPM3 (Tropomyosin 3) • PDGFB (Platelet Derived Growth Factor Subunit B) • LRP1 (LDL Receptor Related Protein 1) • HTRA1 (HtrA Serine Peptidase 1) • SH3PXD2A (SH3 And PX Domains 2A)
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BRAF V600E • BRAF V600 • NTRK1 fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • TPM3-NTRK1 fusion
10ms
The spectrum of RAF1 fusion positive solid tumors in children and young adults. (ASCO 2023)
We report 8 RAF1 fusion positive solid tumors in children and young adults, mainly in low-grade gliomas. Although rare, the presence of a RAF1 fusion not only facilitates the tumor diagnosis but also provides genomic evidence for potential targeted therapies. References: 1.
Clinical
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BRAF (B-raf proto-oncogene) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • KIAA1549 • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • GOLGA4 (Golgin A4) • TBL1XR1 (TBL1X Receptor 1)
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KIAA1549-BRAF fusion • BRAF fusion • GOLGA4-RAF1 fusion
10ms
Tumor-agnostic genomic and clinical analysis of solid tumors with BRAF fusions. (ASCO 2023)
A wide variety of adult and pediatric solid tumors harbored de novo BRAF fusions. Complementary RNA sequencing optimized fusion identification in many cases. Multiple novel fusion partners were found.
Clinical • Pan tumor
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FGFR (Fibroblast Growth Factor Receptor) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KIAA1549 • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • EGFR mutation • BRAF V600 • CDKN2A deletion • FGFR fusion • KIAA1549-BRAF fusion • BRAF fusion • NTRK fusion
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MSK-IMPACT • MSK-ACCESS
11ms
A NOVEL PATHOGENIC VARIANT OF THE KRAS GENE FOUND IN A PATIENT WITH PILOCYTIC ASTROCYTOMA (ASPHO 2023)
This is a case of a patient with a pilocytic astrocytoma with a novel pathogenic mutation in the KRAS gene. Further studies are needed to understand the diagnostic and therapeutic consequences of this previously unidentified gene mutation.
Clinical
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • KIAA1549
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KRAS mutation • KIAA1549-BRAF fusion • BRAF fusion
12ms
A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome. (PubMed, Front Oncol)
Furthermore, pathway and gene network analyses of genes in the fusion region revealed alterations in retinoic acid mediated apoptosis and MAPK signaling pathways and key hub genes that may potentially be involved in tumor growth and progression, including BRAF, LUC7L2, MKRN1, RICTOR, TP53, HIPK2, HNF4A, POU5F, and SOX4. Our study is the first report of a large cohort of patients with PMA and PA in the Saudi population that provides detailed clinical features, genomic copy number changes, and outcome of these pediatric tumors and may help better diagnosis and characterization of PMA.
Clinical data • Retrospective data • Journal
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • KIAA1549 • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • HNF1A (HNF1 Homeobox A) • SOX4 (SRY-Box Transcription Factor 4)
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KIAA1549-BRAF fusion • BRAF fusion
12ms
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549 • CD34 (CD34 molecule)
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KIAA1549-BRAF fusion • BRAF fusion
1year
Pan-Trk Immunohistochemistry Performance for Evaluation of NTRK Gene Fusions and Other Alterations: Real World Experience with Unexpected Findings (USCAP 2023)
Pan-Trk IHC has outstanding sensitivity for NTRK fusions detection, regardless of staining pattern, and can be used as an inexpensive screening test for NTRK fusions. Pan-Trk IHC has superior sensitivity compared to Idylla GeneFusion assay, especially for NTRK2 fusion detection. Interestingly, IHC+/NGS fusion- cases may have other kinase alterations, including fusions and copy number gains.
Real-world evidence • Clinical • Real-world
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BRAF (B-raf proto-oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • KIAA1549 • CDK6 (Cyclin-dependent kinase 6) • NTRK (Neurotrophic receptor tyrosine kinase)
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NTRK1 fusion • NTRK2 fusion • KIAA1549-BRAF fusion • BRAF fusion • NTRK fusion
|
Idylla™ GeneFusion Assay • VENTANA pan-TRK (EPR17341) Assay
1year
Multi-institution analysis of tumor mutational burden and outcomes in pediatric central nervous system tumor patients. (PubMed, Pediatr Blood Cancer)
High TMB is correlated with higher rates of progression and death as compared to low-TMB tumors. These findings may help identify patients who may benefit from alternative treatments, such as immunotherapies.
Journal • Tumor mutational burden • IO biomarker
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FGFR1 (Fibroblast growth factor receptor 1) • NF1 (Neurofibromin 1) • KIAA1549 • H3-3A (H3.3 Histone A) • H3F3A (H3 Histone Family Member 3A)
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TP53 mutation • BRAF V600E • TMB-H • BRAF V600 • FGFR1 amplification • TMB-L • NF1 mutation • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • BRAF amplification
1year
Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion. (PubMed, Virchows Arch)
The RIN2::BRAF transcript encodes a chimeric protein containing a dimerization domain SH2 and an intact kinase domain, consistent with a prototypic oncogenic kinase rearrangement. In addition, we discuss the potential oncogenic mechanisms of BRAF signaling and its implication in targeted therapy with kinase inhibitors.
Journal
|
BRAF (B-raf proto-oncogene) • KIAA1549
|
KIAA1549-BRAF fusion • BRAF fusion
1year
Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data. (PubMed, BMC Cancer)
We demonstrate the power of integrating multi-omic datasets to identify low frequency fusions and characterize the JPA genome at high resolution. We suggest that linked-reads and Hi-C could be used in clinic for the detection and characterization of JPAs.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549 • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
|
KIAA1549-BRAF fusion • BRAF fusion
1year
Early experience with targeted therapy as a first-line adjuvant treatment for pediatric low-grade glioma. (PubMed, Neurosurg Focus)
Targeted therapies have the potential to become a standard treatment option for pLGG due to their favorable toxicity profile and oral route of administration. This case series provides preliminary evidence that targeted therapies can induce an early disease response as a first-line adjuvant treatment; however, large-scale studies are required to assess long-term durability and safety.
Journal
|
NF1 (Neurofibromin 1) • KIAA1549
|
BRAF V600E • BRAF V600 • NF1 mutation • KIAA1549-BRAF fusion • BRAF fusion
|
Mekinist (trametinib) • Tafinlar (dabrafenib)
over1year
Clinical and molecular features of disseminated pediatric low-grade glioma and glioneuronal tumors: a systematic review and survival analysis. (PubMed, Neurooncol Adv)
Chromosome 1p deletion and BRAF-KIAA1549 fusion were the most common alterations identified in dpLGG/GNT cases reviewed. The relative molecular heterogeneity between DLGG and DLGNT, however, deserves further exploration and ultimately correlation with their biologic behavior to better understand the pathogenesis of dpLGG/GNT.
Review • Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
|
BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion
over1year
TRAM-01: Trametinib for Pediatric Neuro-oncology Patients With Refractory Tumor and Activation of the MAPK/ERK Pathway. (clinicaltrials.gov)
P2, N=114, Active, not recruiting, St. Justine's Hospital | Recruiting --> Active, not recruiting | Trial completion date: Dec 2026 --> Mar 2027 | Trial primary completion date: Jun 2026 --> Mar 2027
Enrollment closed • Trial completion date • Trial primary completion date
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • KIAA1549
|
KIAA1549-BRAF fusion • BRAF fusion
|
Mekinist (trametinib)
over1year
The clinical and molecular characteristics of progressive hypothalamic/optic pathway pilocytic astrocytoma. (PubMed, Neuro Oncol)
We identified risk factors associated with progressive PA. Our results support the model in which the p53-PIM1-MYC axis and TBX3 act alongside MAPK and PI3K/AKT/mTOR pathways to promote tumor progression, highlighting potential new targets for combination therapy and refining disease prognostication.
Journal
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • KIAA1549 • PIM1 (Pim-1 Proto-Oncogene) • NKX2-3 (NK2 Homeobox 3)
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KIAA1549-BRAF fusion • BRAF fusion
over1year
Clinical progression, pathological characteristics, and radiological findings in children with diffuse leptomeningeal glioneuronal tumors: A systematic review. (PubMed, Front Oncol)
The analysis included case reports rather than consecutively treated patients due to the rarity of diffuse leptomeningeal glioneuronal tumors, which may have introduced a bias. Early integration of clinical, pathological, and radiological findings is necessary for appropriate management of this tumor, as this may enable early treatment and improve prognosis.
Review
|
BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion