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    Keywords: brain ; CELLS ; tumor ; Germany ; PATHWAY ; PATHWAYS ; CLASSIFICATION ; SYSTEM ; SYSTEMS ; GENE ; GENES ; TUMORS ; PATIENT ; MECHANISM ; CONTRAST ; mechanisms ; FREQUENCY ; polymorphism ; POLYMORPHISMS ; VARIANTS ; IDENTIFICATION ; LESIONS ; WHITE-MATTER ; SERIES ; pathology ; NEOPLASTIC TRANSFORMATION ; molecular ; VARIANT ; MUTATIONAL ANALYSIS ; ALLELES ; DYSPLASIA ; epilepsy ; focal cortical dysplasia ; FOCAL EPILEPSIES ; GANGLIOGLIOMAS ; glio-neuronal lesion ; GLIONEURONAL TUMORS ; tuberous sclerosis ; TUBEROUS SCLEROSIS COMPLEX
    Abstract: Epilepsy-associated malformations of cortical development (MCDs) comprise a variety of dysplastic and neoplastic lesions of yet undetermined molecular pathology. Histopathologic similarities between MCDs and dysplastic brain lesions in the autosomal inherited neurocutaneous phacomatosis tuberous sclerosis (TSC), which affects the TSC1 and/or TSC2 genes, suggest common pathogenetic mechanisms. Previous studies revealed different alterations of TSC1 and TSC2 in epilepsy-associated malformations and glio-neuronal tumors despite histopathologic similarities. In order to examine current clinico-pathologic classification systems of cortical malformations on the molecular level, we carried out a mutational analysis of TSC1 and TSC2 in a series of surgical specimens obtained from patients with FCD without Taylor type balloon cells (FCDIIa; n = 20), architectural dysplasias (FCDI; n = 15), nodular cortical heterotopias (NCH; It = 4), and heterotopic white matter neurons (WMNH; It = 19). In FCDIIa, abundant genomic polymorphisms were detected in TSC2 (intron 4) but no allelic variants observed in exon 17 of TSCL This allelic distribution pattern is in contrast to findings in FCDI and WMNH but also to those previously reported in FCDIIb (Taylor's balloon cell type). The latter revealed increased frequencies of specific alleles only in TSCL The determination of characteristic molecular genetic alterations in specific epilepsy-associated malformations will support a comprehensive clinico-pathologic classification system and help to identify molecular pathways with potential pathogenetic relevance. Our work is supported by DFG (SFB TRB [AJB], DFG B1 42 1/1-1 [113]), BONFOR, and Deutsche Krebshilfe
    Type of Publication: Journal article published
    PubMed ID: 16042315
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