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
Medical Genetics Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
Anatomic Pathology Unit, Meyer Children's University Hospital Viale Pieraccini 2450139, Florence, Italy.
Am J Cancer Res. 2016 Dec 1;6(12):2910-2918. eCollection 2016.
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 (partially), and genes, with the distal breakpoint falling at 23 Kbp from the 5'UTR of , 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.
伴有神经毡样岛的小儿神经胶质神经元肿瘤（GTNI）是一种罕见的具有神经元分化的肿瘤，伴有弥漫性浸润的星形胶质细胞样和少突胶质细胞样成分。2007年世界卫生组织中枢神经系统肿瘤分类将其视为间变性星形细胞瘤的一种形态变异。关于小儿GTNI的数据很少，可能是因为其罕见性以及临床侵袭性的差异。我们通过单核苷酸多态性/比较基因组杂交阵列研究了来自两名男性和两名女性（一名新生儿和三名4至8岁儿童）的四个GTNI肿瘤样本，以确定任何可能的常见基因组改变。所有患者在手术治疗后均接受了化疗和放疗。在我们的两个GTNI病例中未发现基因组不稳定或复发性改变。在其余两个病例中，我们在一个病例中检测到8号染色体的镶嵌三体性（15 - 20%），在另一个病例中检测到5q14.1区域的扩增，涉及（部分）、和基因，远端断点位于距p53辅助因子的5'非翻译区23千碱基处。尽管样本量小影响了任何临床 - 组织学相关性，但GTNI在分子水平上似乎有所不同，基因组失衡可能在至少部分病例中起作用。我们的工作为该肿瘤家族的知识和分类做出了重要贡献。
