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1.
Ann Pathol ; 42(2): 113-118, 2022 Mar.
Artigo em Francês | MEDLINE | ID: mdl-34865880

RESUMO

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated metastatic melanoma. Although the BRAF mutation appears to be an early and driver mutation, some authors hypothesized that its expression was not stable during melanoma progression, suggesting a molecular heterogeneity. This argument is often used to explain discrepancy in molecular status among patients with melanoma, discrepancies that we occasionally met during our practice. We retrospectively compared BRAF mutational status on matched melanoma samples (primary & metastatic lesions), thus 150 samples from 56 patients were analysed through immunohistochemistry anti-BRAF, PCR-HRM and Sanger sequencing, Next Generation Sequencing (NGS) and digital PCR. Seven cases presented an apparent tumor heterogeneity. The analysis of these discrepancies by a technique of increasing sensitivity made it possible to identify 1 false-negative result for the immunohistochemistry, 1 false-negative result for the NGS sequencing and 5 (3%) false-negative results by PCR-HRM SANGER. Our results are consistent with the most recent data, demonstrating the stability of the BRAF mutation during the course of melanoma. Immunohistochemistry shows excellent sensitivity for detecting the main BRAF mutation. In our study, the mutational heterogeneity was actually misleading, a result of imperfect sensitivity of some older molecular approaches.


Assuntos
Melanoma , Neoplasias Cutâneas , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Análise Mutacional de DNA/métodos , Humanos , Melanoma/patologia , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/uso terapêutico , Estudos Retrospectivos , Neoplasias Cutâneas/patologia
2.
Clin Nucl Med ; 46(1): e59-e60, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32956128

RESUMO

We present a 42-year-old woman with primary central nervous system lymphoma (PCNSL) and strong F-FDOPA PET uptake. F-FDOPA PET has high diagnostic accuracy in gliomas and brain metastases. The L-type amino acid transporter 1, targeted by F-FDOPA and C-MET PET, is a cell-type transporter usually upregulated in malignant tumors, including PCNSL. In this line, strong uptake was already shown with C-MET in PCNSL. We report the same findings with F-FDOPA. Consequently, PCNSL is a possible differential neoplastic diagnosis of F-FDOPA uptake among neoplastic lesions.


Assuntos
Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/metabolismo , Di-Hidroxifenilalanina/análogos & derivados , Linfoma não Hodgkin/diagnóstico por imagem , Linfoma não Hodgkin/metabolismo , Tomografia por Emissão de Pósitrons , Adulto , Transporte Biológico , Diagnóstico Diferencial , Di-Hidroxifenilalanina/metabolismo , Humanos , Masculino
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