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BIOMARKER:

BRAF fusion

i
Other names: 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:
6d
Melanoma With RNF11::BRAF Fusion: A Novel Fusion Previously Undescribed in Melanoma. (PubMed, Am J Dermatopathol)
Although BRAF fusions are commonly observed in Spitz melanocytic neoplasms, the discovery of the RNF11::BRAF fusion in melanomas is unprecedented. Our case represents a triple wild-type, clinically aggressive melanoma of possibly non-Spitz lineage with an ultraviolet signature and a rare BRAF fusion, contributing to the expanding body of literature on BRAF-fused melanomas.
Journal • IO biomarker
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • MLANA (Melan-A)
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BRAF mutation • NRAS mutation • KIT mutation • BRAF fusion
6d
Congenital melanocytic nevi initiated by BRAF fusion oncogene with firmness, pruritus, and desmoplastic stroma. (PubMed, Br J Dermatol)
Congenital melanocytic nevi with BRAF fusion genes appear to have unique clinical features and may be associated with numerous satellite lesions. Marked desmoplasia is a histopathologic feature that can point towards an underlying BRAF fusion gene.
Journal
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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BRAF mutation • BRAF fusion
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Mekinist (trametinib)
17d
Late Recurrent Spitz Melanoma With a TMEM106B::BRAF Fusion. (PubMed, Am J Dermatopathol)
The BRAF fusion supports the diagnosis of Spitz melanoma, a genetically defined subset of Spitzoid melanoma. This case represents the first report of a TMEM106B::BRAF fusion in melanoma, emphasizing the critical role of molecular profiling in diagnosing and managing this malignancy, and suggesting a potential avenue for future therapeutic exploration.
Journal
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BRAF (B-raf proto-oncogene) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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BRAF mutation • BRAF fusion
20d
Mirdametinib + BGB-3245 in Advanced Solid Tumors (clinicaltrials.gov)
P1/2, N=23, Terminated, SpringWorks Therapeutics, Inc. | Trial completion date: Jun 2027 --> Jan 2025 | Active, not recruiting --> Terminated | Trial primary completion date: Oct 2026 --> Jan 2025; Lack of tolerability of Brimarafenib when given in combination of Mirdametinib
Trial completion date • Trial termination • Trial primary completion date
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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KRAS mutation • BRAF mutation • NRAS mutation • BRAF fusion
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Gomekli (mirdametinib) • brimarefenib (BGB-3245)
23d
Imaging Clusters of Pediatric Low-Grade Glioma are Associated with Distinct Molecular Characteristics. (PubMed, AJNR Am J Neuroradiol)
Our radiogenomics study indicates that the intrinsic molecular characteristics of tumors correlate with distinct imaging subgroups in pLGG, paving the way for future multi-modal investigations that may enhance understanding of disease progression and targetability.
Journal
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BRAF (B-raf proto-oncogene) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • KIAA1549
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BRAF V600E • BRAF V600 • BRAF fusion
25d
Novel EVI5::BRAF Gene Fusion in Infantile Fibrosarcoma: A Case Report and Review of Literature. (PubMed, Int J Mol Sci)
To the best of our knowledge, the EVI5::BRAF fusion has not yet been described in BRAF fusions in IFS. Nevertheless, further studies are needed to define the prognostic features of these emerging BRAF sarcomas, along with new anti-BRAF therapeutic approaches.
Review • Journal
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BRAF (B-raf proto-oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • SPARC (Secreted Protein Acidic And Cysteine Rich) • SOX10 (SRY-Box 10) • GFAP (Glial Fibrillary Acidic Protein)
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BRAF fusion
1m
BGB-3245-AU-001: Study of Safety, Pharmacokinetics, and Antitumor Activity of BGB-3245 in Participants with Advanced or Refractory Tumors (clinicaltrials.gov)
P1, N=110, Active, not recruiting, MapKure, LLC | Recruiting --> Active, not recruiting | Trial completion date: Jun 2025 --> Nov 2025 | Trial primary completion date: Jun 2025 --> Nov 2025
Enrollment closed • Trial completion date • Trial primary completion date
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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KRAS mutation • BRAF mutation • BRAF V600 • BRAF fusion
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brimarefenib (BGB-3245)
1m
Performance of Machine Learning Models in Predicting BRAF Alterations Using Imaging Data in Low-Grade Glioma: A Systematic Review and Meta-Analysis. (PubMed, World Neurosurg)
AI models may perform relatively well in predicting BRAF alterations in LGG using imaging data and appear to be capable of high sensitivities and specificities. However, future studies with larger sample sizes implementing different ML or DL algorithms are required to reduce imprecision.
Retrospective data • Review • Journal
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BRAF (B-raf proto-oncogene)
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BRAF mutation • BRAF wild-type • BRAF fusion
1m
A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration (clinicaltrials.gov)
P1/2, N=57, Active, not recruiting, Pediatric Brain Tumor Consortium | Recruiting --> Active, not recruiting
Enrollment closed
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BRAF V600E • BRAF V600 • BRAF fusion
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Mekinist (trametinib) • Tafinlar (dabrafenib) • hydroxychloroquine
1m
BEAVER: Binimetinib and Encorafenib for the Treatment of Advanced Solid Tumors With Non-V600E BRAF Mutations (clinicaltrials.gov)
P2, N=26, Active, not recruiting, University Health Network, Toronto | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025
Trial completion date • Trial primary completion date
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF mutation • BRAF V600K • BRAF fusion
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Mektovi (binimetinib) • Braftovi (encorafenib)
1m
Combined RET and MEK Inhibition as a Treatment for RET Fusion-Positive NSCLC With Acquired BRAF Fusion: A Case Report. (PubMed, JTO Clin Res Rep)
She was then treated with a combination of selpercatinib and trametinib, which led to a likely partial response, despite the combination demonstrating side effects. This case report details the first known instance of NSCLC with a RET fusion developing resistance by means of a BRAF fusion, treated with combined RET and MEK inhibition.
Journal
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BRAF (B-raf proto-oncogene) • RET (Ret Proto-Oncogene) • CCDC6 (Coiled-Coil Domain Containing 6) • SKAP2 (Src Kinase Associated Phosphoprotein 2)
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RET fusion • CCDC6-RET fusion • BRAF fusion • RET positive
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Mekinist (trametinib) • Retevmo (selpercatinib)
1m
A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration (clinicaltrials.gov)
P1/2, N=75, Recruiting, Pediatric Brain Tumor Consortium | Trial completion date: Jun 2029 --> Jun 2030 | Trial primary completion date: Aug 2026 --> Mar 2027
Trial completion date • Trial primary completion date
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BRAF V600E • BRAF V600 • BRAF fusion
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Mekinist (trametinib) • Tafinlar (dabrafenib) • hydroxychloroquine
1m
Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review. (PubMed, BMC Pediatr)
Next-generation sequencing has demonstrated significant value in identifying genetic fusions in pediatric PACC. In our case report, we identified both the classical SND1-BRAF fusion, commonly associated with PACC, and a previously unreported nonclassical BRAF-KMT2C fusion. These findings underscore the critical role of BRAF alterations as key drivers of oncogenesis in PACC. A multidisciplinary treatment strategy integrating surgery, chemotherapy, and radiation therapy offers a promising precedent for improving therapeutic outcomes and prolonging survival in pediatric PACC cases.
Review • Journal
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BRAF (B-raf proto-oncogene) • KMT2C (Lysine Methyltransferase 2C)
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BRAF fusion
2ms
Genetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the PBTA and PNOC. (PubMed, Neuro Oncol)
Genetic ancestry-associated differences exist across pediatric CNS tumor histological and molecular subtypes from PBTA and PNOC. Further investigation into genetic and socioeconomic factors contributing to these observed inequities is needed.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF fusion
2ms
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma-A Controversial and Pathologically Challenging Low-Grade Sarcoma. (PubMed, Genes Chromosomes Cancer)
Positive margin status was associated with increased recurrence and reduced disease-free survival (DFS, p = 0.02). Moreover, it emphasizes the impact of multiplatform molecular testing in confirming the diagnosis. The lack of both local recurrence and metastatic potential outside VGLL3 amplifications requires further investigation.
Journal
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BRAF (B-raf proto-oncogene) • FGFR1 (Fibroblast growth factor receptor 1) • YAP1 (Yes associated protein 1) • OGA (O-GlcNAcase) • MAML2 (Mastermind Like Transcriptional Coactivator 2) • VGLL3 (Vestigial Like Family Member 3)
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BRAF fusion
2ms
FDA Approval Summary: Tovorafenib for Relapsed or Refractory BRAF-altered Pediatric Low-Grade Glioma. (PubMed, Clin Cancer Res)
The required post-marketing clinical trial (FIREFLY-2) was well underway at the time of accelerated approval. This represents the first FDA approval of a systemic therapy for the treatment of patients with pLGG with BRAF fusions or rearrangements.
FDA event • Journal
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BRAF (B-raf proto-oncogene)
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BRAF mutation • BRAF V600 • BRAF fusion
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Ojemda (tovorafenib)
2ms
Fatal Spitz Melanoma With MAD1L1::BRAF Fusion: A Case Report and Literature Review. (PubMed, J Cutan Pathol)
A review of previously reported cases confirmed as Spitz melanoma with distant metastases (n = 7) revealed a broad age range (11-71 years, median 46 years), high mortality (5/7), frequent BRAF fusions (6/7), and recurrent TERT promotor mutations and CDKN2A/B deletions. This report adds valuable insights into our understanding of the clinical and genetic characteristics of Spitz melanoma with distant metastases.
Journal
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BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PRAME (Preferentially Expressed Antigen In Melanoma) • MAD1L1 (Mitotic Arrest Deficient 1 Like 1)
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BRAF mutation • CDKN2A deletion • CDKN2A mutation • BRAF fusion • TERT mutation
3ms
Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report. (PubMed, Heliyon)
During a limited 1.5-year follow-up period, neither a confirmed local recurrence nor a distant organ metastasis occurred in this case. We propose that BRAF fusion variations can occur in metastatic EOCC.
Journal • MSi-H Biomarker • Metastases
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BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • RAS (Rat Sarcoma Virus)
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BRAF V600E • MSI-H/dMMR • BRAF V600 • RAS mutation • BRAF fusion
3ms
Emerging paradigm: Molecularly targeted therapy with Dabrafenib and Trametinib in recurring pediatric gliomas with BRAF mutations: A narrative review. (PubMed, Medicine (Baltimore))
Gliomas are tumors arising in the central nervous system, frequently associated with Class I mutations and BRAF fusions. Further research into resistance mechanisms and long-term effects is necessary to optimize treatment strategies. Other therapies, such as everolimus and Selumetinib, also show potential and warrant further investigation.
Review • Journal
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BRAF (B-raf proto-oncogene)
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BRAF mutation • BRAF V600 • BRAF fusion
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Mekinist (trametinib) • Tafinlar (dabrafenib) • everolimus • Koselugo (selumetinib)
3ms
Soft tissue tumor with BRAF and NRAS mutations sharing features with NTRK-rearranged spindle cell neoplasm: A case report expanding the spectrum of spindle cell tumor with kinase gene alterations. (PubMed, Pathol Int)
Since BRAF activation occurs in BRAF fusion gene tumors and BRAF mutations, they could share a similar mechanism in tumorigenesis. This case suggests the further expansion of kinase-related spindle cell tumors.
Journal
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CD34 (CD34 molecule) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • BRAF mutation • NRAS mutation • BRAF V600 • NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • NRAS Q61K • NRAS Q61 • BRAF fusion • NRAS mutation + BRAF mutation
4ms
Unconventional Histopathological Features With KIAA1549::BRAF Fusion in Advanced Prostatic Adenocarcinoma. (PubMed, Int J Surg Pathol)
Despite diverse therapeutic interventions targeting mitogen-activated protein kinase signaling and subsequent clinical trial enrollment, disease progression remained relentless, culminating in the patient's demise within 4 years of diagnosis. This report highlights the exceptional histopathological presentation associated with KIAA1549::BRAF fusion in prostatic adenocarcinoma, emphasizing the need for a deeper comprehension of its implications on disease behavior and therapeutic responsiveness in similar instances.
Journal • Metastases
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BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • KIAA1549 • GATA3 (GATA binding protein 3) • NKX3-1 (NK3 homeobox 1)
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BRAF mutation • KIAA1549-BRAF fusion • BRAF fusion
4ms
Assessment of BRAF Fusions in 177,227 Thyroid Nodules by Exome-Enriched RNASeq Testing (AMP 2024)
The detection of BRAF fusions and their many partners was enabled by the Afirma XA exome-enriched RNASeq panel. Although BRAF fusions occurred in only 0.2% of thyroid nodules, they were GSC-Suspicious and lacked typical BRAF/RAS mutations. Interestingly, expression signatures associated with malignancy varied by fusion partner.
BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • AGK (Acylglycerol Kinase) • NTRK (Neurotrophic receptor tyrosine kinase) • EXOC4 (Exocyst Complex Component 4) • TRIM24 (Tripartite Motif Containing 24)
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BRAF V600E • BRAF V600 • RAS mutation • ALK wild-type • BRAF fusion • BRAF K601E • BRAF K601
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Afirma® Genomic Sequencing Classifier
4ms
Diagnostic and Clinical Utility of OncoScan Microarray and NGS-Based Sequencing in Pediatric Solid Tumors: Children's Mercy Hospital Experience (AMP 2024)
OS+ is a reliable test to identify clinically relevant genomic alterations, cnLOH, and several hotspot mutations in pediatric FFPE solid tumor specimens. WGS/WES significantly increases the yield of actionable somatic mutations and cancer-predisposing germline variants. The cost, turnaround time, and tumor percentage in the specimen make OS+ followed by WES principal tests for pediatric solid tumor analysis at our institution.
Clinical • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • H3-3A (H3.3 Histone A)
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TP53 mutation • BRAF V600E • KRAS mutation • EGFR mutation • PIK3CA mutation • BRAF V600 • PTEN mutation • BRAF fusion
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OncoScan™ CNV Assay
4ms
Mirdametinib + BGB-3245 in Advanced Solid Tumors (clinicaltrials.gov)
P1/2, N=23, Active, not recruiting, SpringWorks Therapeutics, Inc. | Recruiting --> Active, not recruiting | N=136 --> 23
Enrollment closed • Enrollment change • Combination therapy • Metastases
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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KRAS mutation • BRAF mutation • NRAS mutation • BRAF fusion
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Gomekli (mirdametinib) • brimarefenib (BGB-3245)
5ms
BRAF/MEK inhibitors use for pediatric gliomas; real world experience from a resource-limited country. (PubMed, Front Oncol)
Two patients with BRAFv600E-mutated/CDKN2A deleted PXA-2, had progression following resection, and experienced stable/partial response at 9 months of dabrafenib use...Two patients who stopped trametinib due to side effects (significant acneiform rash/paronychia and intracranial bleeding) did not experience progression. Our experience with BRAF/MEK inhibitors' use was positive achieving response in all LGGs and provided sustained response with good quality of life for patients with HGG. Cost effectiveness analyses and patients' satisfaction comparisons with chemotherapy are needed to evaluate the routine use of these drugs in LMICs.
Journal • Real-world evidence • Real-world
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FGFR (Fibroblast Growth Factor Receptor)
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BRAF V600E • FGFR mutation • CDKN2A deletion • CDKN2A mutation • BRAF fusion
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Mekinist (trametinib) • Tafinlar (dabrafenib)
5ms
Features and efficacy of triple-targeted therapy for patients with EGFR-mutant non-small-cell lung cancer with acquired BRAF alterations who are resistant to epidermal growth factor receptor tyrosine kinase inhibitors. (PubMed, ESMO Open)
BRAF alterations, specifically BRAF mutations and BRAF fusions, facilitate resistance to EGFR-TKIs. Triple-targeted therapy is effective and safe for patients with EGFR-mutant NSCLC with acquired BRAF alterations, mainly among patients with BRAF class I mutations and potentially in patients with BRAF fusions.
Journal
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene)
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EGFR mutation • BRAF mutation • BRAF fusion
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Mekinist (trametinib) • Zelboraf (vemurafenib) • Tafinlar (dabrafenib)
5ms
Sarcomatoid Morphology in Pediatric Langerhans Cell Neoplasm Does Not Always Predict Aggressive Clinical Course. (PubMed, Pediatr Dev Pathol)
Although most cases occur in adults, rare examples of LCS have been reported in children with variable clinical outcome. We present 2 childhood cases of Langerhans cell neoplasm with high grade sarcomatous features and OSBPL9::BRAF fusion and BRAF V600E mutation.
Journal
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF V600 • BRAF fusion
5ms
Trial primary completion date • Metastases
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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KRAS mutation • BRAF mutation • BRAF V600 • BRAF fusion
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brimarefenib (BGB-3245)
6ms
Novel therapies for pediatric low grade glioma. (PubMed, Curr Opin Neurol)
Historical treatment options in pediatric low-grade gliomas have utilized surgery, radiation therapy and conventional chemotherapy. Recently greater insight into their biology has found that alterations in MAPK driven pathways are often the hallmark of tumorigenesis. Targeting these novel pathways has led to tumor control and shrinkage without the use of conventional chemotherapy. Caution should be taken however, since these treatment options are still novel, and we do not fully appreciate the long-term effects. Nonetheless a new era of targeted medicine is here.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR (Fibroblast Growth Factor Receptor) • NTRK (Neurotrophic receptor tyrosine kinase) • PRKCA (Protein Kinase C Alpha)
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BRAF V600E • BRAF V600 • FGFR fusion • BRAF fusion • ROS1 mutation • ROS1 amplification • NTRK fusion
6ms
Heterogeneous SSTR2 target expression and a novel KIAA1549::BRAF fusion clone in a progressive metastatic lesion following 177Lutetium-DOTATATE molecular radiotherapy in neuroblastoma: a case report. (PubMed, Front Oncol)
Upon enrollment, the patient received two rounds of the radiolabeled somatostatin analogue lutetium-177 octreotate (177Lu-DOTATATE), which was well tolerated...The observed variation in SSTR2 expression between tumor lesions suggests that heterogeneous target expression may have been the reason for treatment failure in this patient's case. Further investigation within the LuDO-N trial will give a more comprehensive understanding of the correlation between SSTR2 expression levels and treatment outcomes, which will be important to advance treatment strategies based on MRT for children with high-risk NB.
Journal • Metastases
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BRAF (B-raf proto-oncogene) • KIAA1549 • SSTR (Somatostatin Receptor) • SSTR2 (Somatostatin Receptor 2)
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KIAA1549-BRAF fusion • BRAF fusion • SSTR2 expression • SSTR Expression
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Lutathera (lutetium Lu 177 dotatate)
6ms
FIRELIGHT-1: Tovorafenib (DAY101) Monotherapy or in Combination With Other Therapies for Patients With Melanoma and Other Solid Tumors (clinicaltrials.gov)
P1/2, N=168, Active, not recruiting, Day One Biopharmaceuticals, Inc. | Recruiting --> Active, not recruiting
Enrollment closed • Combination therapy
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BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase)
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BRAF fusion • RAF1 amplification
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Ojemda (tovorafenib) • pimasertib (AS703026)
6ms
RNA-based multiplex polymerase chain reaction and sequencing to detect fusion genes in melanoma (ESMO Asia 2024)
Conclusions The Archer® FUSIONPlex® custom panel detected fusion genes in 10% of driver gene-negative melanomas. Combining DNA- and RNA-based multiplex sequencing is useful to identify potentially targetable gene alterations.
Polymerase Chain Reaction • IO biomarker
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NF1 (Neurofibromin 1) • MERTK (MER Proto-Oncogene, Tyrosine Kinase) • ETV1 (ETS Variant Transcription Factor 1) • MAD1L1 (Mitotic Arrest Deficient 1 Like 1) • MAP3K8 (Mitogen-Activated Protein Kinase Kinase Kinase 8) • RASGRF1 (Ras Protein Specific Guanine Nucleotide Releasing Factor 1) • MEGF8 (Multiple EGF Like Domains 8) • RASGRF2 (Ras Protein Specific Guanine Nucleotide Releasing Factor 2)
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BRAF mutation • KIT mutation • NF1 mutation • BRAF fusion • CIC deletion
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Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
6ms
Clinicopathological and molecular characteristics of pediatric gliomas: analysis of 111 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
There are significant differences in clinical manifestations, pathological characteristics, molecular variations, and prognosis between the pDLGG, CAG and pDHGG groups. The integrated diagnosis combining histology and molecular features is of great importance for the accurate diagnosis and treatment of pediatric gliomas.
Journal
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • ATRX (ATRX Chromatin Remodeler) • KIAA1549 • H3-3A (H3.3 Histone A)
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TP53 mutation • BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion • TP53 amplification
8ms
Concurrent DNA and RNA NGS Testing to Characterize Rare Fusions in Advanced NSCLC Patients (IASLC-WCLC 2024)
Importantly, co-occurrence of rare fusions and EGFR classical activating mutations in patients pre-treated with anti-EGFR therapy suggests a potential resistance mechanism and consideration of upfront, dual mutation, targeted treatment to improve outcomes. Further clinical studies are needed to validate the best treatment options for these patients with rare fusions.
Clinical • Next-generation sequencing • Metastases
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NRG1 (Neuregulin 1)
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BRAF V600E • KRAS G12C • BRAF V600 • NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • EGFR exon 19 deletion • EGFR T790M • MET exon 14 mutation • ALK fusion • ROS1 fusion • NRG1 fusion • KRAS G12 • BRAF fusion • EGFR fusion • KRAS deletion
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Tempus xT Assay
10ms
Genetic Landscape and Its Prognostic Impact in Children With Langerhans Cell Histiocytosis. (PubMed, Arch Pathol Lab Med)
According to multivariate analysis, risk organ involvement was the strongest independent adverse prognostic factor (hazard ratio, 8.854; P < .001); BRAF or MAP2K1 mutation was not an independent prognostic factor. Most pediatric patients with LCH carry somatic mutations involving the MAPK pathway, correlating with clinical characteristics and outcomes for first-line chemotherapy.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10) • ARAF (A-Raf Proto-Oncogene)
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BRAF V600E • KRAS mutation • BRAF V600 • BRAF fusion
10ms
Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas. (PubMed, Ann Diagn Pathol)
KIAA1549::BRAF fusions are prevalent in PAs and can be reliably detected using both FISH and qRT-PCR assays. Cost considerations suggest qRT-PCR as a more economical option for fusion detection in routine clinical practice.
Journal
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BRAF (B-raf proto-oncogene) • KIAA1549
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KIAA1549-BRAF fusion • BRAF fusion
10ms
Columnar Cell Thyroid Carcinoma: A Heterogeneous Entity Demonstrating Overlap Between Papillary Thyroid Carcinoma and Follicular Neoplasms. (PubMed, Head Neck Pathol)
This study represents the largest molecularly defined cohort of non-oncocytic thyroid carcinomas with columnar cell morphology. These tumors represent a genetically and behaviorally heterogeneous group of neoplasms, some of which have RAS-like or follicular neoplasm-like genetics, some of which have BRAF-p.V600E-like or classic papillary thyroid carcinoma-like genetics, and some of which remain unclear. Noninvasive or minimally invasive tumors showed an indolent course compared to those with angioinvasion, gross extrathyroidal growth, or high-grade morphology. Consideration could be given to reclassification of this neoplasm outside of the subtyping of papillary thyroid carcinoma in light of its genetic diversity, distinct morphology, and clinical behavior more closely aligned with follicular thyroid neoplasms.
Journal
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BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • NF2 (Neurofibromin 2) • RAS (Rat Sarcoma Virus) • AGK (Acylglycerol Kinase) • CDX2 (Caudal Type Homeobox 2)
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BRAF V600E • BRAF V600 • ATM mutation • BRAF fusion • AGK-BRAF fusion • TERT mutation
10ms
BEAVER: Binimetinib and Encorafenib for the Treatment of Advanced Solid Tumors With Non-V600E BRAF Mutations (clinicaltrials.gov)
P2, N=26, Active, not recruiting, University Health Network, Toronto | Trial completion date: Mar 2024 --> Dec 2024 | Trial primary completion date: Mar 2024 --> Dec 2024
Trial completion date • Trial primary completion date • Metastases
|
BRAF (B-raf proto-oncogene) • KIAA1549
|
BRAF mutation • BRAF V600K • BRAF fusion • BRAF V600R • BRAF V600D • BRAF V600M • BRAF T599 • BRAF V600_K601delinsE • BRAF K601
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Mektovi (binimetinib) • Braftovi (encorafenib)
11ms
Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy. (PubMed, Br J Haematol)
A repeated-measure generalized estimating equation demonstrated that targeted treatment was statistically significantly (1) more likely to result in a complete response (CR), partial response (PR) or stable disease (SD) (odds ratio &lsqb;OR]: 17.34, 95% CI: 2.19-137.00, p = 0.007), and (2) less likely to result in progression (OR: 0.08, 95% CI: 0.03-0.23, p < 0.0001). Histiocytic neoplasms represent an entity with underappreciated clinical and molecular diversity, poor responsiveness to conventional therapy and exquisite sensitivity to targeted therapy.
Journal
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KRAS (KRAS proto-oncogene GTPase) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • MAPK3 (Mitogen-Activated Protein Kinase 3)
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KRAS mutation • BRAF fusion
11ms
Identification of Multiclass Pediatric Low-Grade Neuroepithelial Tumor Molecular Subtype with ADC MR Imaging and Machine Learning. (PubMed, AJNR Am J Neuroradiol)
ADC values of tumor segmentations have differentiative signals that can be used for training machine learning classifiers for molecular biomarker identification of PLGNTs. ADC-based pretherapeutic differentiation of the BRAF status of PLGNTs has the potential to avoid invasive tumor biopsy and enable earlier initiation of targeted therapy.
Journal • Machine learning
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BRAF (B-raf proto-oncogene) • KIAA1549
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BRAF V600E • BRAF V600 • KIAA1549-BRAF fusion • BRAF fusion
11ms
Trial completion date
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BRAF (B-raf proto-oncogene)
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BRAF mutation • BRAF fusion
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Mekinist (trametinib)
12ms
Testing the Combination of the Anticancer Drugs ZEN003694 and Binimetinib in Patients With Advanced/Metastatic or Unresectable Solid Tumors With RAS Alterations and Triple Negative Breast Cancer (clinicaltrials.gov)
P1, N=42, Recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2024 --> Mar 2025 | Trial primary completion date: Mar 2024 --> Mar 2025
Trial completion date • Trial primary completion date • Combination therapy • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • PGR (Progesterone receptor) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1)
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BRAF mutation • HER-2 amplification • NF1 mutation • HRAS mutation • BRAF fusion
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Mektovi (binimetinib) • ZEN-3694