We describe a case of a 46-year-old woman diagnosed with localized PTC 20 years ago, having already undergone several treatments with iodine-131 and then treatment with lenvatinib for metastatic disease, to which she developed intolerance. In 2020, in addition to pleural, thoracic, and abdominal lymph node metastasis, progression with symptomatic vertebral bone metastasis was detected, which led to the equation of new therapeutic options. In this context, a genetic/molecular test was carried out, which identified the BRAF V600E mutation and enabled the start of treatment with dabrafenib/trametinib since June 2020. This treatment allowed functional gain, symptomatic relief, and stabilization of the disease. It demonstrates how, in rare tumors, the personalized medicine approach can bring new treatment possibilities.
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http://dx.doi.org/10.1159/000526533 | DOI Listing |
Int J Surg Case Rep
January 2025
Visceral Surgery Department II, Mohammed V Military Hospital, Ibn Sina University Hospital, Rabat, Morocco.
Introduction And Importance: Cutaneous malignant melanoma, originating from melanocytes, is a highly metastatic cancer with an incidence rate of 0.9 per 100,000. The gastrointestinal tract is a common site of metastasis, with the small intestine being particularly affected.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Purpose: Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade sarcoma affecting with predilection the acral soft tissues of middle-aged adults. Clinically, MIFS is associated with a high rate of local recurrence but infrequent distant metastases. The diagnosis remains challenging due to their wide histologic spectrum and overlap with reactive, benign, and low-grade malignant lesions.
View Article and Find Full Text PDFJ Gastrointest Oncol
December 2024
Department of Traditional Chinese Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Colorectal cancer (CRC) is among the most prevalent malignancies globally, with a rising incidence observed in younger demographics. Despite surgical resection remaining the cornerstone of treatment, metastatic CRC poses significant therapeutic challenges. Immunotherapy, a mode of treatment that leverages the patient's immune system, presents a promising frontier in CRC management, particularly for late-stage cases with limited treatment options.
View Article and Find Full Text PDFClin Exp Dermatol
January 2025
School of Medicine, Universidad Central del Caribe, Bayamón, Puerto Rico.
This study investigates the differential activation of the epithelial-mesenchymal transition (EMT) pathway in metastatic melanoma, focusing on BRAF- and NRAS-mutated samples from The Cancer Genome Atlas (TCGA). Gene Set Enrichment Analysis (GSEA) reveals that BRAF mutations are more significantly associated with increased EMT activation, relative to all other mutations in the dataset. In contrast, NRAS mutations were not significantly associated with gene expression of the EMT pathway, suggesting alternative mechanisms for metastasis.
View Article and Find Full Text PDFJ Immunother Precis Oncol
February 2025
Department of Investigational Therapeutics, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
BRAF mutation leads to constitutive activation of the MAPK pathway and is associated with the immune-activating molecular subtype of colorectal cancer. Targeted therapy for mutant metastatic colorectal cancer (CRC) has significantly improved outcomes for these patients when combined with anti-epithelial growth factor receptor (EGFR) therapy. However, most patients ultimately develop disease progression.
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