PubMed · 1414827
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V B Ho, J G Smirniotopoulos, F M Murphy, E J Rushing. Radiologic-pathologic correlation: hemangioblastoma.. https://pubmed.ncbi.nlm.nih.gov/1414827/
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This report describes a midline cerebellar primitive neuroectodermal tumor with muscular differentiation, that is, medullomyoblastoma with melanotic tubular structures, which developed in the cerebellar vermis in a 23-month-old male. Rhabdomyoblastic differentiation consisted both of striated muscle fibers and undifferentiated cells showing immunoreactivity for desmin and myogenic transcription factors. The presence of melanotic epithelial structures raised the issue of a teratomatous tumor. This case demonstrates the occurrence of this very rare tumor in early childhood as well as the utility of a careful search for the presence of myogenic and/or melanotic features in medulloblastomas.
Combined analysis of gene expression array data and array-based comparative genomic hybridization data have been used in a series of 26 pediatric brain tumors to define up- and downregulated genes that coincide with losses, gains, and amplifications involving specific chromosome regions. Frequent losses were defined in chromosome arms 3q, 6q, 8p, 10q, 16q, 17p, and gains were identified in chromosome 7, and chromosome arms 9p and 17q. Amplification of a 2p region was seen in only one tumor, which corresponded to increased expression of the MYCN and DDX1 genes. To facilitate the analysis of the two data sets, we have developed a custom overlay tool that defines genes that are underexpressed in regions of deletions and overexpressed in regions of gain, across the genome and specifically within regions showing recurrent involvement in medulloblastomas.
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