Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis

作者：Giunti Laura; Buccoliero Anna Maria; Pantaleo Marilena; Lucchesi Maurizio; Provenzano Aldesia; Palazzo Viviana; Guarducci Silvia; Guidi Milena; Genitori Lorenzo; Zuffardi Orsetta; Sardi Iacopo^*; Giglio Sabrina^*

来源：American Journal of Cancer Research, 2016, 6(12): 2910-2918.

• Glioneuronal tumour with neuropil-like islands (GTNI)
• paediatric brain tumours
• central nervous tumours (CNS)
• copy number variations (CNVs)
• SNP/CGH array
• Database of Genomic Variants (DGV)
• mosaicism amplification
• common genomic alteration
• variation of anaplastic astrocytoma

Paediatric glioneuronal tumour with neuropil-like islands (GTNI) is a rare neoplasm of neuronal differentiation and diffusely infiltrating astroglial and oligodendrocyte-like components. The 2007 World Health Organization classification of central nervous system tumours considered it as a pattern variation of anaplastic astrocytoma. There are few data on paediatric GTNI probably both for their rarity and variable clinical aggressiveness. We studied by SNP/CGH array four tumour samples of GTNI from two males and two females (one new-born and three children aged from 4 to 8 years), in order to identify any possible common genomic alteration. All patients received chemo- and radiotherapy after their surgical treatment. No genomic instability nor recurrent alterations have been demonstrated in two of our GTNI cases. In the remaining two, we detected a mosaic trisomy 8 (15-20%) in one case, and an amplification at 5q14.1 involving DMGDH (partially), BHMT2 and BHMT genes, with the distal breakpoint falling at 23 Kbp from the 5'UTR of JMY, a p53 cofactor. Although the smallness of the sample impairs any clinical-histological correlation, GTNI appear different at the molecular level, with genomic imbalances playing a possible role in at least part of them. Our work gives an important contribution in knowledge and classification of this family of tumours.

• 出版日期2016