Oncologia
Permanent URI for this community
Browse
Browsing Oncologia by Title
Now showing 1 - 4 of 4
Results Per Page
Sort Options
- Anaplastic cutaneous lymphoma mimicking an infection.Publication . Barbosa, L; Brito, MJ; Balaco, I; Noruegas, MJWe present a case of a 17-year-old boy who presented with a skin lesion with extension to the soft tissues of the left thigh. On ultrasound, a homogeneous and hypoechoic expansile formation in the subcutaneous tissue was found, measuring 6.5 × 5 × 3.5 cm, with scarce vascularization. Computed tomography showed a low attenuating neoformation with surrounding edema. An inflammatory disorder was the first diagnosis, but the absence of improvement with antibiotics led us to perform magnetic resonance imaging that showed a high signal lesion on T2-weighted imaging and low intensity signal on T1-weighted imaging and surrounding contrast uptake. Positron emission tomography and computed tomography showed uptake of 18F-fluorodeoxyglucose by the lesion. The final diagnosis was anaplastic cutaneous lymphoma.
- CARD15 mutations and colorectal cancer in a South European countryPublication . Freire, P; Portela, F; Donato, MM; Figueiredo, M; Amaro, P; Sá, A; Andrade, P; Gouveia, H; Sofia, CPURPOSE: CARD15 mutations are associated with higher susceptibility to Crohn's disease (CD) and longstanding colonic CD increases the risk of developing colorectal cancer (CRC). The relation between these mutations and sporadic CRC remains controversial. The aim of this study was to assess whether germline and/or somatic CARD15 mutations are risk factors for sporadic CRC in Portugal and whether there are genotype-phenotype correlations in these patients. METHODS: The three main CARD15 mutations (R702W, G908R and 3020insC) were researched in 112 sporadic CRC patients and 152 healthy subjects. RESULTS: Overall, CARD15 mutations were found in 18 patients (16.1%) and in 15 controls (9.9%; p = 0.132). Individually, the incidence of R702W was significantly higher in patients than in controls (12.5% vs. 5.3%, p = 0.035), whereas the genotype frequencies for G908R (2.7% vs. 3.3%) and 3020insC (0.9% vs. 1.3%) were not statistically different between the two groups. Entire genotypic agreement was found in patients genotyped for blood and neoplastic DNA. A significantly higher incidence of CARD15 mutations was detected in patients with CRC diagnosed under 60 years old (28.6% vs. 10.4%, p = 0.015) and in female patients (24.4% vs. 10.4%, p = 0.048). No associations were found between CARD15 mutations and family history, symptoms or CRC pathologic characteristics. CONCLUSIONS: The CARD15 R702W variant might be a predisposing factor to sporadic CRC in Portugal, particularly in patients under 60-years old and in female patients. This susceptibility appears to be linked with germline CARD15 mutations. Nevertheless, we have found no evidence that CARD15 mutations predict the pathologic characteristics of CRC.
- CARD15 Mutations and Colorectal Cancer in a South European CountryPublication . Freire, P; Portela, F; Donato, MM; Figueiredo, P; Duque, G; Ferreira, M; Amaro, P; Sá, A; Andrade, P; Gouveia, H; Sofia, C
- Recomendações para Análise Mutacional em Tumores do Estroma Gastrointestinal (GISTs): Grupo de Trabalho Português GIST – Proposta de CondeixaPublication . Lopes, JM; Soares, M; Gouveia, AM; Barroso, S; Cravo, M; Mansinho, H; Penedo, L; Sá, A; Santos, LL; Teixeira, JAThe authors outline recommendations for the mutational analysis of GISTs unanimously approved by a multidisciplinary group on July 20th, 2012. The mutational status of KIT and PDGFRA allows identifying therapeutic targets to tyrosine kinase inhibitors (TKIs), and therefore, the safe clinical practice in the biotherapy decisions for patients with GISTs should include the analysis of the mutational status. The mutational analysis of the primary disease is not recommended in the diagnostic routine of most GISTs; nevertheless may have prognostic value and be useful in the selection for adjuvant treatment after complete resection of primary GIST, and is considered experimental in the progressive disease under treatment with TKIs. The mutational analysis should be considered in selected cases as described herewith and performed in laboratories in compliance with high standards of quality assurance, considering the strong impact on clinical decisions.Os autores apresentam as recomendações para a análise mutacional de GISTs, aprovadas por unanimidade por um grupo multidisciplinar em 20 de Julho de 2012. O estado mutacional de genes como o KIT e o PDGFRA permite identificar alvos terapêuticos para inibidores da tirosinacínase (ITKs) e, por isso, a boa prática clínica nas decisões bioterapêuticas de doentes com GISTs deve incluir a análise do estado mutacional. A análise mutacional da doença primária não é recomendada na rotina diagnóstica da generalidade dos GISTs; no entanto, pode ter valor prognóstico e ser útil na seleção de doentes, após ressecção completa de GIST primário e é considerada experimental na doença progressiva sob tratamento com ITKs. A análise mutacional deve considerar-se nos casos selecionados descritos neste texto e ser realizada em laboratórios em conformidade com padrões elevados de garantia de qualidade, atendendo ao seu elevado impacto sobre as decisões clínicas.