Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma

BACKGROUND. Brain tumors in patients with Down syndrome (DS) rarely are rep orted, 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 jus t over 2 years. The literature on brain tumors in patients with DS is revie wed. RESULTS. Although brain neoplasms were suspected to be in excess in patient s with DS, the authors found only 36 patients with brain neoplasms and 2 sp inal tumors. An unusual distribution of histologic tumor types, with an ove r-representation of germ cell and mesenchymal tumors and a lack of embryona l 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 distributi on and may behave differently compared with the general population. These f eatures may be related to the gene dosage effect of oncogenes, antioncogene s, and genes involved in cerebral development due to the supernumerary chro mosome 21. Cancer 2001;91:1458-66. (C) 2001 American Cancer Society.