Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFThe development of targeted anti-cancer therapies through the study of cancer genomes is intended to increase survival rates and decrease treatment-related toxicity. We treated a transposon-driven, functional genomic mouse model of medulloblastoma with 'humanized' in vivo therapy (microneurosurgical tumour resection followed by multi-fractionated, image-guided radiotherapy). Genetic events in recurrent murine medulloblastoma exhibit a very poor overlap with those in matched murine diagnostic samples (<5%).
View Article and Find Full Text PDFObjective/hypothesis: Acoustic analysis is a commonly used method for quantitatively measuring vocal fold function. Voice signals are analyzed by selecting a waveform segment and using various algorithms to arrive at parameters such as jitter, shimmer, and signal-to-noise ratio (SNR). Accurate and reliable methods for selecting a representative vowel segment have not been established.
View Article and Find Full Text PDFUnlabelled: Focal cortical dysplasia (FCD) and mixed neuronal and glial tumors share many clinical characteristics; therefore, the presurgical differential diagnosis of these diseases using MRI is difficult in some cases. The aim of this study was to determine whether (11)C-methionine PET, compared with (18)F-FDG PET, was useful for the evaluation of these diseases.
Methods: The clinical and imaging data of 30 pediatric lesional epilepsy patients pathologically diagnosed with FCD, dysembryoplastic neuroepithelial tumor (DNT), or ganglioglioma were reviewed.