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

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. Cancer 2001;91:1458–66. © 2001 American Cancer Society.

Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

“…Most studies have suggested a decreased incidence of intracranial tumors. 9,20-23 Thirty-eight reported cases with intracranial and spinal tumors were summarized by Satgé et al 24 In our study, two (1 month of age and 6 years of age) out of three cases with central nervous system tumors were identified as germ cell tumors (…”

“…Satgé et al . reported that 14 (61%) of 23 cases under age 15 were classified as germ cell tumors 24 …”

Posterior fossa immature teratoma in an infant with trisomy 21: A case report and review of the literature

“…[1117] In cases of Down syndrome, the proportion of germ cell tumors is quite high reaching to 61% of all intracranial tumors associated with this disease. [13] However, association of teratoma with Down syndrome is quite rare. We only found four cases of this type including ours, three of them being Japanese [Table 1].…”

“…Some authors suggest an excess of luteinizing hormone and follicle-stimulating gonadotropin caused by cryptorchidism[14] or inherent genetic changes associated with this disease relate to the tumorigenesis. [113]…”

Are fetus‐in‐fetu highly differentiated teratomas? Practical implications

“…However, the occurrence of a particular form of germ cell tumor in a neonate with trisomy 21 is in agreement with the growing evidence that gonadal and extragonadal germ cell tumors are more frequent in DS. This is particularly true for the retroperitoneal area and the cranium, where FIF are usually found 4−6 …”