The B-Raf proto-oncogene serine/threonine kinase (B-Raf) is a member of the Raf kinase family. The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. BRAF V600E mutation in these cases has been canonically detected using Sanger sequencing or immunohistochemistry but not with next-generation sequencing (NGS). Moreover, to our knowledge, there is no detailed report of the BRAF V600E mutation in an adult glioblastoma with classical histologic features (c-GBM). Therefore, we performed NGS analysis to determine the mutational status of BRAF of 13 glioblastomas (GBMs) (11 primary and 2 secondary cases) and detected one tumor harboring the BRAF V600E mutation. We report here the detection of the BRAF V600E mutation in a patient with c-GBM and describe the patient's clinical course as well as the results of histopathological analysis.
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http://dx.doi.org/10.1186/s12957-015-0521-x | DOI Listing |
Head Neck
January 2025
Department of Otolaryngology Head and Neck Surgery, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
Background: Airway obstruction secondary to chyle leak is an exceptionally rare phenomenon. Here, we describe this complication in a patient with anaplastic thyroid carcinoma (ATC) undergoing consolidative surgery after BRAF-targeted therapy.
Methods: A 55-year-old man presented with a rapidly enlarging neck mass.
Acta Neuropathol Commun
January 2025
Department of Neuro-Oncology, Columbia University Irving Medical Center, 710 W. 168th Street, New York, NY, 10032, USA.
Glioblastoma (GBM) classification involves a combination of histological and molecular signatures including IDH1/2 mutation, TERT promoter mutation, and EGFR amplification. Non-canonical mutations such as BRAF, found in 1-2% of GBMs, activate the MEK-ERK signaling pathway. This mutation can be targeted by small molecule inhibitors, offering therapeutic potential for GBM.
View Article and Find Full Text PDFThyroid
January 2025
Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Gwanak-gu, Republic of Korea.
Although patients with anaplastic thyroid cancer (ATC) generally have a poor prognosis and there are currently no effective treatment options, survival and response to therapy vary between patients. Genomic and transcriptomic profiles of ATC have been reported; however, a comprehensive study of the tumor microenvironment (TME) of ATC is still lacking. This study aimed to elucidate the TME characteristics associated with ATC and their prognostic implications.
View Article and Find Full Text PDFWorld J Clin Oncol
January 2025
Department of Oncology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, Beijing 100091, China.
Background: Patients with mutant metastatic colorectal cancer (mCRC) have a low incidence rate, poor biological activity, suboptimal response to conventional treatments, and a poor prognosis. In the previous cohort study on mCRC conducted by our team, it was observed that integrated Chinese and Western medicine treatment could significantly prolong the overall survival (OS) of patients with colorectal cancer. Therefore, we further explored the survival benefits in the population with mutant mCRC.
View Article and Find Full Text PDFEJHaem
February 2025
Department of Laboratory Medicine Hematology Section Clinical Center, NIH Bethesda Maryland USA.
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