title: Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.
abstract: 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 involvingDMGDH(partially),BHMT2andBHMTgenes, with the distal breakpoint falling at 23 Kbp from the 5'UTR ofJMY, 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.
authors.affiliation: Medical Genetics Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Giunti
authors.affiliation: Anatomic Pathology Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Buccoliero
authors.affiliation: Medical Genetics Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Pantaleo
authors.affiliation: Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Lucchesi
authors.affiliation: Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Viale Morgagni 5050134, Florence, Italy (S.G.).
authors.forename: Aldesia
authors.initials: A
authors.lastname: Provenzano
authors.affiliation: Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Viale Morgagni 5050134, Florence, Italy (S.G.).
authors.forename: Viviana
authors.initials: V
authors.lastname: Palazzo
authors.affiliation: Medical Genetics Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Guarducci
authors.affiliation: Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: Guidi
authors.affiliation: Neurosurgery Unit, Department of Neuroscience, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Genitori
authors.affiliation: Department of Molecular Medicine, University of Pavia Viale Forlanini 1427100, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
authors.forename: Iacopo
authors.initials: I
authors.lastname: Sardi
authors.affiliation: Medical Genetics Unit, Meyer Children's University HospitalViale Pieraccini 2450139, Florence, Italy; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of FlorenceViale Morgagni 5050134, Florence, Italy (S.G.).
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
keywords: Database of Genomic Variants (DGV); Glioneuronal tumour with neuropil-like islands (GTNI); SNP/CGH array; amplification; central nervous tumours (CNS); common genomic alteration; copy number variations (CNVs); mosaicism; paediatric brain tumours; variation of anaplastic astrocytoma