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MINERVA PEDIATRICA

A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry


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Minerva Pediatrica 2017 Mar 03

DOI: 10.23736/S0026-4946.17.04830-7

Copyright © 2017 EDIZIONI MINERVA MEDICA

language: English

Somatic structural variations in pediatric brain tumors- an update

Zhengwei LI, Qingzeng SUN, Yingchun SHI

Department of Pediatric Surgery, Xuzhou Children's Hospital, Xuzhou, Jiangsu, P.R. China


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Pediatrics brain tumours are the second most frequent malignancy in children, and the most common cause of cancer-related deaths in both the 0-14-year and the 15-24-year age group. Although, pediatrics high-grade glioma (pHGG) is a histologically similar tumour to that arising in adults, these are distinct biological diseases, differing in copy number profiles and driver genetic alterations. Recent sequencing initiatives have conclusively shown the existence of subgroups of HGG marked by distinct driver mutations, which are significantly enriched in young children (H3F3A K27M), teenagers and young adults (H3F3A G34R/V), and middle- aged adults (IDH1/2). Structural rearrangements resulting in novel fusion genes are strongly associated with cancer, and numerous examples exist in both adult and childhood malignancies. Although, only few have been described in pHGG. Structural variants (SV) frequently result in chimeric proteins targetable by novel therapeutic approaches, an outcome desperately needed in pHGG.


KEY WORDS: Pediatrics - Brain - Tumor - Somatic - Variations

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