Browsing by Author "Tavares, P"
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- Association of adult mastocytosis with M541L in the transmembrane domain of KITPublication . Rocha, J; Duarte, ML; Marques, H; Torres, F; Tavares, P; Silva, A; Brito, C
- Practical Guidance on the Detection of NTRK Fusions in Sarcomas: Current Status and Diagnostic ChallengesPublication . Fernandes, I; Macedo, D; Gouveia, E; Ferreira, A; Lima, J; Lopez, D; Melo-Alvim, C; Carvalho, A; Tavares, P; Rodrigues-Santos, P; Cardoso, P; Magalhães, M; Vieira, P; Brito, J; Mendes, C; Rodrigues, J; Netto, E; Oliveira, V; Sousa, C; Henriques Abreu, M; Pina, F; Vasques, HSarcomas are a rare and heterogeneous group of mesenchymal malignant tumors and account for approximately 1% of all adult cancers and around 20% of all pediatric solid tumors in Europe. Technology advances have enabled a more accurate and efficient characterization of the molecular mechanisms underlying the pathogenesis of sarcoma subtypes and revealed novel and unexpected therapeutic targets with prognostic/predictive biomarkers, namely the neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The NTRK fusion assessment has recently become a standard part of management for patients with unresectable locally advanced or metastatic cancers and has been identified in various tumor types. In the more prevalent adult and pediatric sarcomas, NTRK fusions are present in 1% and 20%, respectively, and in more than 90% of very rare subsets of tumors. The inhibition of TRK activity with first-generation TRK inhibitors has been found to be effective and well tolerated in adult and pediatric patients, independently of the tumor type. Overall, the therapeutic benefit to those patients compensates for the difficulties of identifying NTRK gene fusions. However, the rarity and diagnostic complexity of NTRK gene fusions raise several questions and challenges for clinicians. To address these issues, an expert panel of medical and pediatric oncologists, radiologists, surgeons, orthopedists, and pathologists reviewed the recent literature and discussed the current status and challenges, proposing a diagnostic algorithm for identifying NTRK fusion sarcomas. The aim of this article is to review the updated information on this issue and to provide the experts' recommendations and practical guidance on the optimal management of patients with soft tissue sarcomas, infantile fibrosarcoma, gastrointestinal stromal tumors, and osteosarcoma.
- Sjögren-Larsson syndrome due to a novel mutation in the FALDH genePublication . Botelho-Gomes, JM; Veira, AP; Navarro, J; Maré, R; Tavares, P; Brito, C
- The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphomaPublication . Carvalho, A; Cunha, C; Almeida, AJ; Osório, NS; Saraiva, M; Teixeira-Coelho, M; Pedreiro, S; Torrado, E; Domingues, N; Gomes-Alves, AG; Marques, A; Silva MG; Lacerda, JF; Gomes, M; Pinto, AC; Torres, F; Rendeiro, P; Tavares, P; Di Ianni, M; Heutink, P; Bracci, PM; Conde, L; Ludovico, P; Pedrosa, J; Maciel, P; Pitzurra, L; Aversa, F; Marques, H; Paiva, A; Skibola, CF; Romani, L; Castro, AG; Rodrigues, FNon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is being targeted as a therapeutic strategy. We investigated the association between the functional rs5743836 polymorphism in the TLR9 promoter and risk for B-cell NHL and its major subtypes in three independent case-control association studies from Portugal (1160 controls, 797 patients), Italy (468 controls, 494 patients) and the US (972 controls, 868 patients). We found that the rs5743836 polymorphism was significantly overtransmitted in both Portuguese (odds ratio (OR), 1.85; P=7.3E-9) and Italian (OR, 1.84; P=6.0E-5) and not in the US cohort of NHL patients. Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner.