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  • Title: Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma.
    Author: Satgé D, Monteil P, Sasco AJ, Vital A, Ohgaki H, Geneix A, Malet P, Vekemans M, Réthoré MO.
    Journal: Cancer; 2001 Apr 15; 91(8):1458-66. PubMed ID: 11301393.
    Abstract:
    BACKGROUND: Brain tumors in patients with Down syndrome (DS) rarely are reported, and their behavior is not well known. METHODS: The authors report on a male patient age 19 years who had DS with diffuse astrocytoma (World Health Organization Grade 2) that recurred twice despite treatment, leading to a glioblastoma and, finally, to death in just over 2 years. The literature on brain tumors in patients with DS is reviewed. RESULTS: Although brain neoplasms were suspected to be in excess in patients with DS, the authors found only 36 patients with brain neoplasms and 2 spinal tumors. An unusual distribution of histologic tumor types, with an over-representation of germ cell and mesenchymal tumors and a lack of embryonal tumors, was observed, in agreement with what is known currently about the tumor profile of patients with DS. CONCLUSIONS: Cerebral tumors in patients with DS have a specific distribution and may behave differently compared with the general population. These features may be related to the gene dosage effect of oncogenes, antioncogenes, and genes involved in cerebral development due to the supernumerary chromosome 21.
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