Growth, progression and chromosome instability of Neuroblastoma: a new scenario of tumorigenesis?

BMC Cancer

Debate

Gian Paolo Tonini¹ 

[1] Neuroblastoma Laboratory, Italian Neuroblastoma Foundation, Pediatric Research Institute, Fondazione Città della Speranza, Corso Stati Uniti, 4, 35127, Padua, Italy;

关键词: Neuroblastoma;    Chromosome instability;    Aneuploidy;    Genome;    Embryo;    Neural crest cells;   

DOI  :  10.1186/s12885-016-2986-6

 received in 2016-05-25, accepted in 2016-12-08,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundNeuroblastoma is a pediatric cancer with a low survival rate of patients with metastatic stage 4 disease. Tumor aggressiveness and progression have been associated with structural copy number variations (CNVs) that are observed in malignant cells. In contrast, localized Neuroblastomas, which are associated with a low number of structural CNVs but frequent numerical CNVs, are less aggressive, and patients have good outcomes. Finally, whole-genome and whole-exome sequencing of Neuroblastoma tissues have shown few damaging mutations in these tumors.ConclusionsIn the present report it is proposed that chromosome instability (CIN) plays a major role in Neuroblastoma tumorigenesis and that CIN is already present in the early phases of tumor development. High CIN can promote several types of chromosomal damage including chromothripsis, gene deletion, amplification and rearrangements, which deregulate gene expression. Indeed, gene rearrangements have been reported as a new scenario in the development of Neuroblastoma, which supports the hypothesis that CIN is an early step preliminary to the late catastrophic events leading to tumor development.

【 授权许可】

CC BY   
© The Author(s). 2017