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In metastatic stage, therapeutic approach for malignant melanoma is particularly based on performance status, metastatic sites, and status (/ or (class I mutations). In most cases, mutations and mutations are mutually exclusive to each other. However, some rare mutations class III are preferentially associated with a mutation, leading to the MAP Kinase pathway activation and subsequent cell proliferation. Melanomas with this double mutation are rare and difficult to treat because of the lack of codified therapeutic options. We report a patient with metastatic melanoma, harboring class III mutation (N581K) associated to mutation (Q61L) with treatment failure. He was treated in second line, after immunotherapy, by monotherapy of MEK inhibitor (MEKi), which underline the interest of NGS (Next Generation Sequencing) to early identify all mutations and enabling onco-dermatologist to discuss a treatment. Rare mutations represent 3 to 14% of melanoma mutants and the aim of this communication is to promote the next generation sequencing to extend the paradigm of individually therapeutic approach with target therapy into different spectrum of melanoma patients.
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http://dx.doi.org/10.1016/j.heliyon.2023.e18420 | DOI Listing |
J Clin Invest
September 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom.
Understanding the genetic causes of diseases affecting pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy and diabetes syndrome (MEDS) is a congenital disorder with two known aetiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking.
View Article and Find Full Text PDFInt J Syst Evol Microbiol
September 2025
School of Biomolecular and Biomedical Science, Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland.
Two yeast strains, PYCC 10015 and PYCC 10016, were isolated from soil from an Irish forest. Sequence analysis of the internal transcribed spacer (ITS) region (ITS1-5.8S-ITS2) of the rRNA gene repeat, and the D1/D2 domain of the LSU rRNA gene, showed that they belong to the and genera of the order , but they did not exactly match any known species.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2025
Centre for Experimental Medicine & Rheumatology, William Harvey Research Institute and Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
MS4A4A belongs to the MS4A tetraspan protein superfamily and is selectively expressed by the monocyte-macrophage lineage. In this study, we aimed to evaluate the role of MS4A4A+ macrophages in rheumatoid arthritis (RA) pathogenesis and response to treatment. RNA sequencing and immunohistochemistry of synovial samples from either early treatment-naïve or active chronic RA patients showed that MS4A4A expression positively correlated with synovial inflammation.
View Article and Find Full Text PDFArch Microbiol
September 2025
División de Ciencias Naturales y Exactas, Departamento de Biología, Universidad de Guanajuato, Zip Code 36050, Guanajuato, Mexico.
Plasmids are fundamental to molecular biology and biotechnology, playing a crucial role in bacterial evolution. Some plasmids are linked to complex cellular dynamics, including pathogenicity islands, antibiotic resistance, and gene mobilization. This study reports the isolation and sequencing of two cryptic plasmids with different electrophoretic mobilities from the Escherichia coli clinical isolate O55.
View Article and Find Full Text PDFVirchows Arch
September 2025
Ningbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo, Zhejiang, 315000, China.
The spindle cell variant of papillary thyroid carcinoma (PTC) is exceptionally rare and poses significant diagnostic challenges due to its morphological overlap with other spindle cell lesions of the thyroid. We report a novel case of spindle cell variant PTC in a 66-year-old woman presenting with a TI-RADS 4 thyroid nodule, initially classified as Bethesda III on fine-needle aspiration. Histopathological examination revealed a biphasic tumor composed predominantly of bland spindle cells arranged in solid sheets and fascicles, admixed with entrapped thyroid follicles.
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