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Tumores associados a epilepsia de longa duração (LEAT) : aspetos clínicos, imagiológicos e oncogenéticos
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Resumo(s)
Tumores associados a epilepsia de longa duração (LEAT, do inglês Long-term Epilepsy Associated Tumours) são tumores cuja manifestação clínica principal é a epilepsia refratária à medicação ao longo de um mínimo de dois anos, e passíveis de serem removidos cirurgicamente com resolução do quadro. Na classificação de um LEAT têm sido consideradas as suas características histopatológicas, mas também critérios imagiológicos e imunohistoquímicos. No entanto, ainda não existe uma classificação globalmente consensual que permita inferir corretamente o comportamento (em termos de eventual agressividade ou malignização), prognóstico e/ou abordagem em todos os casos. O objetivo global deste trabalho é agilizar a identificação e diferenciação de vários tipos de LEAT apoiando o seu diagnóstico e tratamento. Neste sentido, reuniu-se informação bibliográfica atualizada sobre os meios complementares de diagnóstico, nomeadamente a imagiologia (em particular a ressonância magnética, RM), histopatologia e genética, e sobre os respetivos critérios de diferenciação dos vários tipos e subtipos de LEAT. Demonstrou-se ainda a aplicabilidade e o valor acrescentado desta informação para o diagnóstico de LEAT, recorrendo à análise de casos submetidos a Cirurgia de Epilepsia no Centro Hospitalar Universitário Lisboa Norte (CHULN). Esta análise permitiu realçar: 1) o propósito das várias sequências RM para o diagnóstico diferencial, 2) a complementaridade dos vários métodos de diagnóstico na identificação do foco epileptogénico e no prognóstico do quadro, e 3) a importância do balanço entre uma intervenção cirúrgica com intuito de preservar a função (Cirurgia de Epilepsia) ou focada na remoção tumoral (Cirurgia de Remoção de Tumor).
Long-term Epilepsy-Associated Tumours (LEAT) are tumours whose main clinical manifestation is medication-refractory epilepsy for at least two years, and which can be surgically removed with resolution. Over the years, the classification of LEAT has mainly considered the histopathological characteristics of each tumour, but also imaging and immunohistochemical criteria. However, there is still no globally consensual classification system allowing the correct inference of behaviour (in terms of eventual aggressiveness or malignancy), prognosis and/or approach for all LEAT cases. The main objective of this work is to facilitate the identification and differentiation of several types of LEAT, supporting their diagnosis and treatment. To this end, recent bibliographic information was gathered on complementary means of diagnosis, namely imaging (particularly magnetic resonance imaging, MRI), histopathology and genetics, and on the respective differentiation criteria of the various types and subtypes of LEAT. It was also demonstrated the applicability and added value of this information for the diagnosis of LEAT, using the analysis of cases submitted to Epilepsy Surgery at CHULN. This analysis allowed to highlight: 1) the purpose of the various MRI sequences for the differential diagnosis, 2) the complementarity of the various diagnostic methods in the identification of the epileptogenic focus and in the prognosis of the clinical picture, and 3) the importance of the approach to the surgical intervention, either aiming to preserve the functionality (Epilepsy Surgery) or focused on tumour removal (Tumour Removal Surgery).
Long-term Epilepsy-Associated Tumours (LEAT) are tumours whose main clinical manifestation is medication-refractory epilepsy for at least two years, and which can be surgically removed with resolution. Over the years, the classification of LEAT has mainly considered the histopathological characteristics of each tumour, but also imaging and immunohistochemical criteria. However, there is still no globally consensual classification system allowing the correct inference of behaviour (in terms of eventual aggressiveness or malignancy), prognosis and/or approach for all LEAT cases. The main objective of this work is to facilitate the identification and differentiation of several types of LEAT, supporting their diagnosis and treatment. To this end, recent bibliographic information was gathered on complementary means of diagnosis, namely imaging (particularly magnetic resonance imaging, MRI), histopathology and genetics, and on the respective differentiation criteria of the various types and subtypes of LEAT. It was also demonstrated the applicability and added value of this information for the diagnosis of LEAT, using the analysis of cases submitted to Epilepsy Surgery at CHULN. This analysis allowed to highlight: 1) the purpose of the various MRI sequences for the differential diagnosis, 2) the complementarity of the various diagnostic methods in the identification of the epileptogenic focus and in the prognosis of the clinical picture, and 3) the importance of the approach to the surgical intervention, either aiming to preserve the functionality (Epilepsy Surgery) or focused on tumour removal (Tumour Removal Surgery).
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
Epilepsia Long-term Epilepsy Associated Tumours (LEAT) Ressonância magnética Diagnóstico histopatológico Ganglioglioma Dysembrioplastic Neuroepithelial Tumour (DNET)