Genotype profiling of a primitive neuroectodermal tumour identifies a non-constitutive chr19q13.41 amplicon

Primitive neuro-ectodermal tumours (PNET) of the supratentorial region are rare, highly malignant embryonal brain tumours affecting young children. Although supratentorial PNET (sPNET) are histologically similar to infratentorial PNET/medulloblastoma, sPNET have more aggressive clinical phenotypes, which suggest sPNET represents distinct biological entities. In contrast to considerable progress in understanding the signalling pathways involved in medulloblastoma, little is known about sPNET pathogenesis. Here we identify a focal amplicon on chr19q13.41 that houses two polycistronic microRNA clusters. Functional analysese indicates that the microRNA clusters may promote oncogenesis in part by modulating cell survival. Copy number analysis was also performed on an overlapping set of PNET tumours, also available on GEO with accession code GSE14087. Keywords: single nucleotide polymorphism array, pediatric brain cancer A primitive neuroectodermal tumour sample with matched blood from the University of Cambridge was analyzed on the Affymetrix GeneChip Mapping 250K Nsp SNP array.