罕见小儿混合性神经胶质神经元肿瘤的细胞遗传学发现及文献综述

Cytogenetic findings in a rare pediatric mixed glioneuronal tumor and review of the literature.

作者信息

Coccé Mariela C, Lubieniecki Fabiana, Bartuluchi Marcelo, Gallego Marta S

机构信息

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

出版信息

Childs Nerv Syst. 2009 Nov;25(11):1485-90. doi: 10.1007/s00381-009-0896-5. Epub 2009 Apr 22.

DOI:10.1007/s00381-009-0896-5

PMID:19387654

Abstract

OBJECTIVE

The aim of the present study was to report the chromosomal abnormalities findings in rare pediatric mixed glioneuronal tumor (GNT), which could not be classified according to the WHO classification.

METHODS

Cytogenetic studies were performed using G-banding and fluorescence in situ hybridization (FISH) techniques.

RESULTS

Cytogenetic analyses showed a deletion of 1p as primary genetic event and gain of chromosome 7 as secondary change. Furthermore, we present a review of available cytogenetic data of 72 pediatric patients with GNT. Taken into account these data and the present case, we found that the most frequent chromosomal anomalies involved gains of chromosomes 7 (15.1%), 5 (8.2%), 1q32-qter (6.8%), 8p21-qter (6.8%), 12 (5.5%), 18 (5.5%), 20q11-qter (5.5%), and X (5.5%). Frequent losses were detected on chromosome regions 1p (8.2%) and 22q (5.5%).

CONCLUSION

The findings of our case combined with those of previous reports suggest that chromosomes 1 and 7 may contain candidate genes involved in the tumorigenesis of GNT.

摘要

目的

本研究旨在报告罕见的儿童混合性神经胶质瘤（GNT）的染色体异常发现，该肿瘤无法根据世界卫生组织（WHO）分类进行归类。

方法

采用G显带和荧光原位杂交（FISH）技术进行细胞遗传学研究。

结果

细胞遗传学分析显示，1p缺失是主要遗传事件，7号染色体获得是次要改变。此外，我们对72例儿童GNT患者的现有细胞遗传学数据进行了综述。综合这些数据和本病例，我们发现最常见的染色体异常包括7号染色体（15.1%）、5号染色体（8.2%）、1q32-qter（6.8%）、8p21-qter（6.8%）、12号染色体（5.5%）、18号染色体（5.5%）、20q11-qter（5.5%）和X染色体（5.5%）的增加。在1p（8.2%）和22q（5.5%）染色体区域检测到频繁缺失。