We report the case of a 32-year-old man with a caecal adenocarcinoma with major lymph node extension and peritoneal carcinomatosis, presenting a BRAF-K601E mutation. A triplet (5FU plus oxaliplatin plus irinotecan) combination with bevacizumab achieved tumor control but the disease progressed immediately after cessation and the patient died 8 months after the diagnosis. A short review of BRAF non-V600E mutations shows that outcome and clinical features depend on the mutation.
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http://dx.doi.org/10.1159/000500857 | DOI Listing |
Mol Diagn Ther
December 2024
Comprehensive Cancer Center, University of Maastricht, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands.
Introduction: Anorectal melanoma is a rare neoplasm with an aggressive behavior and poor prognosis. Recently, recurrent gene mutations related to anorectal melanoma have been identified in a small series of cases, and this holds promise for targeted therapies, analogous to cutaneous melanoma. The purpose of this study was to analyze testing rates and prevalence of mutations in anorectal melanoma in the Dutch population.
View Article and Find Full Text PDFCurr Issues Mol Biol
December 2024
Department of Clinical Oncology, School of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Epidermal growth factor receptor (EGFR) inhibition is crucial in treating RAS wild-type metastatic colorectal cancer, yet current testing methods may miss rare RAS variants affecting treatment efficacy. We analyzed 4122 colorectal cancer patients receiving anti-EGFR antibodies from the Center for Cancer Genomics and Advanced Therapeutics database, identifying 54 patients (1.3%) with rare RAS variants undetectable by standard testing.
View Article and Find Full Text PDFBlood
December 2024
National Cancer Institute, NIH, Bethesda, Maryland, United States.
We found 18 patients with immunophenotype consistent with classic hairy cell leukemia (HCL) and BRAF mutations other than just V600E. Twelve had 1 non-V600E BRAF mutation and 6 had V600E with 1 (n=5) or 2 (n=1) non-V600E BRAF co-mutations.
View Article and Find Full Text PDFMultidiscip Respir Med
November 2024
Department of Medical Oncology, IMS & SUM Hospital, Bhubaneswar, India.
There are many challenges that are faced in the treatment of Non-Small Cell Lung Cancer (NSCLC) due to the complexities associated with the tumor. Association of different types of mutations are one of the major complexities. Among these mutations, BRAF mutations are significantly gathering more attention due to their impact on disease progression and therapeutic response.
View Article and Find Full Text PDFArch Endocrinol Metab
October 2024
Universidade Federal da Bahia Instituto de Ciências da Saúde Programa de Pós-graduação em Processos Interativos de Órgãos e Sistemas SalvadorBA Brasil Programa de Pós-graduação em Processos Interativos de Órgãos e Sistemas, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
Objectives: To assess the molecular profile of follicular cell-derived thyroid carcinomas (FCDTCs) and correlate the identified mutations with the clinical and pathological features of the affected patients.
Materials And Methods: Cross-sectional study of tumor samples from 100 adult patients diagnosed with FCDTC between 2010 and 2019. The patients' clinical and pathological data were collected.
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