Intracranial germinoma with Down's syndrome: A case report and review of the literature

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

“…47 Twelve of 14 patients were Japanese, and the other two patients were Chinese. 50 It is worth noting that 8 of 15 cases (14 children and 1 adult) arose from basal ganglia, which usually account for no more than 10% of all intracranial germ cell tumors as discussed previously by Tanabe et al 31 These tumors are supposed to be developed from primitive germ cells that are situated abnormally in the CNS and in other localizations in many normal embryos and that usually are destroyed shortly after birth either by the immune system or through programmed cell death. 48,49 Nevertheless the data in Table 2 show that the proportional incidence rate in patients with DS clearly is much greater than the 15% rate expected in the Japanese population.…”

Tumorigenesis in Down's syndrome: big lessons from a small chromosome

“…However, germ cell tumours (in particular dysgerminomas), despite rarely occurring in non-DS individuals (~1% of all ovarian cancer), are repeatedly observed in individuals with DS 20 . There is also an increased occurrence of extragonadal (mainly intra-cranial) germ cell tumours 21 . Testicular germ cell tumours (TGCTs) have significantly increased incidence and mortality, ranging from twofold to 12-fold, compared with age-matched euploid males 6,9,[22][23][24][25][26] .…”

Balanced Translocation of 10q and 13q, Including the PTENGene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome

“…The constellation of lipoma, early onset macrocephaly with normal ventricular size, normal childhood stature, pigmented penile lesions, absence of marked mental retardation, and the phenomenon of transient marked wasting associated with a cytogenetic abnor- mality in the vicinity of PTEN support the diagnosis of BRR (35,36). Although tumors of embryonal and nonembryonal origin occur in a number of overgrowth syndromes (32), hCG-secreting tumors have not been associated with any overgrowth syndromes, and the only reported associations seem to be with Down syndrome and Klinefelter syndrome (37,38). To our knowledge, this case is the first report of a hCG-secreting intracranial tumor in an individual with BRR.…”