BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient's treatment because several inhibitors are available that only target BRAF mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a 'nonstandard' mutation in the BRAF gene: BRAF and BRAF, respectively. The first patient was treated with a MEK inhibitor and the second one with ipilimumab. However, not all BRAF mutations result in increased BRAF kinase activity, and clinical data for 'nonstandard' mutations, such as those described in our case report, are sparse. Therefore, treatment with MEK inhibitors can be helpful in cases where BRAF mutations result in increased activity, whereas immune checkpoint inhibitors might be used in cases where the mutations lead to activity levels below those of the wild type.
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http://dx.doi.org/10.1159/000449125 | DOI Listing |
Cancer Cell Int
January 2025
Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Colorectal cancer (CRC) is a major health problem the world face currently and one of the leading causes of death worldwide. CRC is genetically heterogeneous and multiple genetic aberrations may appear on course of the disease throughout patient's lifetime. Genetic biomarkers such as BRAF, KRAS, and NRAS may provide early precision treatment options that are crucial for patient survival and well-being.
View Article and Find Full Text PDFJ Exp Med
March 2025
Institute of Cancer Research, Shenzhen Bay Laboratory , Shenzhen, China.
BRAF mutations drive initiation and progression of various tumors. While BRAF inhibitors are effective in BRAF-mutant melanoma patients, intrinsic or acquired resistance to these therapies is common. Here, we identify non-receptor-type protein tyrosine phosphatase 23 (PTPN23) as an alternative effective target in BRAF-mutant cancer cells.
View Article and Find Full Text PDFA 21-year-old woman presented with progressive proptosis of the right eye with blurring of vision for the past 6 months. MRI showed an intra-orbital lesion that was T1 isointense, T2 hyperintense, and well enhancing on contrast. The patient underwent right frontal craniotomy, superior orbitotomy, and decompression of the lesion.
View Article and Find Full Text PDFCureus
December 2024
Medicine, Army Medical College, Rawalpindi, PAK.
The role of p53 expression in colorectal cancer (CRC) was investigated in this immunohistochemical analysis of 110 CRC patients. The study aimed to explore the relationship between p53 expression and clinicopathological features, such as tumor grade, size, lymph node involvement, and molecular subtypes. The mean age of patients was 52.
View Article and Find Full Text PDFFront Oncol
January 2025
Department of Pediatrics, Children's Healthcare of Atlanta, Atlanta, GA, United States.
Background: Pediatric low-grade gliomas (pLGGs) have an overall survival of over 90%; however, patients harboring a BRAF alteration may have worse outcomes, particularly when treated with classic chemotherapy. Combined BRAF/MEK inhibition following incomplete resection demonstrated improved outcome in BRAF altered pLGG compared to combined carboplatin/vincristine chemotherapy and is now considered the standard FDA-approved treatment for this group of tumors. The aim herein was to investigate the efficacy and tolerability of single agent BRAF inhibitor treatment in BRAF altered pLGG.
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