作者: Vito Alessandro Lasorsa , Flora Cimmino , Marzia Ognibene , Katia Mazzocco , Giovanni Erminio
DOI: 10.1038/S41525-020-0125-4
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摘要: Genomic aberrations of neuroblastoma occurring in late childhood and adolescence are still understudied. Publicly available DNA copy number profiles 556 tumors (discovery set) 208 obtained by array-CGH assay (validation were used to test if 19p loss is significantly over-represented children adolescents with neuroblastoma. The occurrence was separately tested within different age groups the discovery validation set resulting P values combined meta-analysis corrected Bonferroni's method. In both sets, associated older at diagnosis. Particularly, lowest group set: 20%; 35%) 6 years. correlated inferior overall survival patients over years age. Relevant tumor suppressor genes (KEAP1, DNM2, SMARCA4, SLC44A2 CDKN2D) microRNAs (miR-181c, miR-27a, mirR-199a-1) located genomic region involved loss. Downregulation CDKN2D poor patient outcome Among recurrent NB chromosomal aberrations, only 1q gain enriched than 6, its presence mutually exclusive respect Our data demonstrate that a biomarker diagnosed can predict clinical outcome.