Publications by authors named "C D Mount"
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).
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- In a study of six EAPDC cases, histological features were similar to axial PDC, showing malignant cell characteristics, and genetic analysis revealed common loss of the SMARCB1 gene.
- Follow-up revealed significant clinical challenges, including local recurrences and metastasis within months of surgery, highlighting the aggressive nature and poor prognosis of these rare tumors.