An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica"
DOI: 10.1007/s00401-020-02167-1
Abstract: The KIAA1549:BRAF fusion is the most common alteration in pilocytic astrocytoma (PA). It is generated by a focal tandem duplication at 7q34 and acts as an oncogene by driving the mitogen-activated protein kinase (MAPK) pathway… read more here.
Keywords: detection; braf fusion; rna sequencing; kiaa1549 braf ... See more keywords
MEK inhibitors for the treatment of immunotherapy-resistant, AGK-BRAF fusion advanced acral melanoma: a case report and literature review
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-025-06083-3
Abstract: Acral melanoma (AM), a rare and aggressive melanoma subtype with poor prognosis, presents unique challenges in treatment due to its distinct molecular and immune characteristics. This case report describes a patient with AM harboring an… read more here.
Keywords: treatment; agk braf; braf; braf fusion ... See more keywords
Pilocytic astrocytoma vs. ganglioglioma: Progression vs. misdiagnosis, and implications in BRAF testing
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.05.002
Abstract: Ganglioglioma (GG) is a mixed glio-neuronal tumour, comprised of a neoplastic glial component and dysplastic ganglion cells. GG is a tumour of unclear histogenesis; previous studies examining BRAF mutations and chromosome imprinting has provided evidence… read more here.
Keywords: pilocytic astrocytoma; braf; braf fusion; ganglioglioma ... See more keywords
Clinical relevance of BRAF status in glial and glioneuronal tumors: A systematic review
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.05.014
Abstract: Alterations in the BRAF gene have been reported to play a key role in the tumorigenesis of various tumors. Recent studies have shown the existence of BRAF alterations in ganglioglioma (GG), pilocytic astrocytoma (PA), pleomorphic… read more here.
Keywords: braf; braf fusion; review; glial glioneuronal ... See more keywords
Oncogenic BRAF fusions in mucosal melanomas activate the MAPK pathway and are sensitive to MEK/PI3K inhibition or MEK/CDK4/6 inhibition
Sign Up to like & getrecommendations! Published in 2017 at "Oncogene"
DOI: 10.1038/onc.2016.486
Abstract: Despite remarkable progress in cutaneous melanoma genomic profiling, the mutational landscape of primary mucosal melanomas (PMM) remains unclear. Forty-six PMMs underwent targeted exome sequencing of 111 cancer-associated genes. Seventy-six somatic nonsynonymous mutations in 42 genes… read more here.
Keywords: inhibition; braf; braf fusion; mucosal melanomas ... See more keywords
Identification and characterization of a BRAF fusion oncoprotein with retained autoinhibitory domains
Sign Up to like & getrecommendations! Published in 2019 at "Oncogene"
DOI: 10.1038/s41388-019-1021-1
Abstract: Fusion proteins involving the BRAF serine/threonine kinase occur in many cancers. The oncogenic potential of BRAF fusions has been attributed to the loss of critical N-terminal domains that mediate BRAF autoinhibition. We used whole-exome and… read more here.
Keywords: braf; fusion protein; braf fusion; fusion ... See more keywords
LGG-08. MR Imaging of pediatric low-grade gliomas: Pretherapeutic differentiation ofBRAF V600E mutation,BRAF-Fused and Wild-Type tumors in patients without Neurofibromatosis-1
Sign Up to like & getrecommendations! Published in 2022 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noac079.324
Abstract: Abstract OBJECTIVE: The prognosis and treatment of pediatric low-grade gliomas (pLGGs) is influenced by their molecular subtype. MRI remains the mainstay for initial work-up and surgical planning. We aimed to determine the relationship between imaging… read more here.
Keywords: braf v600e; braf; braf fusion; wild type ... See more keywords
PATH-56. PYROSEQUENCING METHOD FOR RAPID DETECTION OF KIAA1549-BRAF FUSION GENES IN PEDIATRIC BRAIN TUMORS
Sign Up to like & getrecommendations! Published in 2019 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noz175.651
Abstract: Fusion genes driving tumorigenesis have drawn the attention of oncologists and researchers. Recently, independent genomic researchers have identified a tandem duplication of BRAF at 7q34 that leads to several KIAA1549-BRAF gene exon fusions in the… read more here.
Keywords: braf; braf fusion; fusion genes; fusion ... See more keywords
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001396
Abstract: Pleomorphic xanthoastrocytoma (PXA) is a World Health Organization (WHO) Grade II glioma occurring primarily in children and young adults. Most PXAs harbor the known activating mutation BRAF V600E. We report a case of locally recurrent… read more here.
Keywords: tmem106b braf; braf; braf fusion; pleomorphic xanthoastrocytoma ... See more keywords
Fatal Spitz Melanoma With MAD1L1::BRAF Fusion: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Cutaneous Pathology"
DOI: 10.1111/cup.14779
Abstract: Spitz melanoma is extremely rare, and only a few cases of distant metastases have been reported. Herein, we describe a case of Spitz melanoma with multiple distant metastases. A 37‐year‐old woman presented with a 5.5‐mm‐diameter… read more here.
Keywords: braf fusion; melanoma; case; distant metastases ... See more keywords
Coexistence of IDH1 Mutation and KIAA1549::BRAF Fusion in a Diffuse Glioma: A Case Report With Clinical, Radiological, and Pathological Correlation
Sign Up to like & getrecommendations! Published in 2025 at "Neuropathology"
DOI: 10.1111/neup.70027
Abstract: Isocitrate dehydrogenase (IDH) mutations and KIAA1549::BRAF fusions are traditionally regarded as independent and mutually exclusive genetic events in gliomas. IDH mutations are hallmark features of diffuse gliomas in adults, while KIAA1549::BRAF fusions are characteristic of… read more here.
Keywords: mutation; diffuse; kiaa1549 braf; braf fusion ... See more keywords