The supratentorial primitive neuroectodermal tumors (PNETs) are a group of highly malignant lesions primarily affecting young children. Although these tumors are histologically indistinguishable from infratentorial medulloblastoma, they often respond poorly to medulloblastoma-specific therapy. Indeed, existing molecular genetic studies indicate that supratentorial PNETs have transcriptional and cytogenetic profiles that are different from those of medullo-blastomas, thus pointing to unique biological derivation for the supratentorial PNET. Due to the rarity of these tumors and disagreement about their histopathological diagnoses, very little is known about the molecular characteristics of the supratentorial PNET. Clearly, future concerted efforts to characterize the molecular features of these rare tumors will be necessary for development of more effective supratentorial PNET treatment protocols and appropriate disease models. In this article the authors review existing molecular genetic data derived from human and mouse studies, with the aim of providing some insight into the putative histogenesis of these rare tumors and the underlying transforming pathways that drive their development. Studies of the related but distinct pineoblastoma PNET are also reviewed.
Molecular genetics of supratentorial primitive neuroectodermal tumors and pineoblastoma
The supratentorial primitive neuroectodermal tumors (PNETs) are a group of highly malignant lesions primarily affecting young children. Although these tumors are histologically indistinguishable from infratentorial medulloblastoma, they often respond poorly to medulloblastoma-specific therapy. Indeed, existing molecular genetic studies indicate that supratentorial PNETs have transcriptional and cytogenetic profiles that are different from those of medullo-blastomas, thus pointing to unique biological derivation for the supratentorial PNET. Due to the rarity of these tumors and disagreement about their histopathological diagnoses, very little is known about the molecular characteristics of the supratentorial PNET. Clearly, future concerted efforts to characterize the molecular features of these rare tumors will be necessary for development of more effective supratentorial PNET treatment protocols and appropriate disease models. In this article the authors review existing molecular genetic data derived from human and mouse studies, with the aim of providing some insight into the putative histogenesis of these rare tumors and the underlying transforming pathways that drive their development. Studies of the related but distinct pineoblastoma PNET are also reviewed.
Abbreviations used in this paper:
cdk = cyclin-dependent kinase; CGH = comparative genomic hybridization; CNS = central nervous system; mRNA = messenger RNA; PNET = primitive neuroectodermal tumor; Shh = Sonic hedgehog; WHO = World Health Organization.
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