17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications
by
, , and
Vid Mlakar
1,*,
Isabelle Dupanloup
1,2,
Fanny Gonzales
1,3,
Danai Papangelopoulou
1,3,
Marc Ansari
1,3 and
Fabienne Gumy-Pause
1,3 1
Cansearch Research Platform for Pediatric Oncology and Hematology, Faculty of Medicine, Department of Pediatrics, Gynecology and Obstetrics, University of Geneva, Rue Michel Servet 1, 1211 Geneva, Switzerland
2
Swiss Institute of Bioinformatics, Amphipôle, Quartier UNIL-Sorge, 1015 Lausanne, Switzerland
3
Division of Pediatric Oncology and Hematology, Department of Women, Child and Adolescent, University Geneva Hospitals, Rue Willy-Donzé 6, 1205 Geneva, Switzerland
*
Author to whom correspondence should be addressed.
Cancers 2024, 16(2), 338; https://doi.org/10.3390/cancers16020338
Submission received: 12 December 2023
/
Revised: 9 January 2024
/
Accepted: 11 January 2024
/
Published: 12 January 2024
(This article belongs to the Special Issue Advances in Genomics and Molecular Pathology of Rare Cancers—Focus on Diverse Populations)
Simple Summary
Neuroblastoma (NB) is the most frequent solid extracranial tumor in children and the most frequently diagnosed cancer during infancy. A genetic modification, a gain of 17q chromosome arm, is the most common modification in neuroblastoma. Substantial research has been performed on 17q’s role in neuroblastoma development and its clinical significance. This paper aims to make a comprehensive review of this evidence. The main findings of the review are: (1) current knowledge supports that 17q gain is involved in the development of neuroblastoma and (2) 17q gain is an important clinical marker independently and in association with other genetic modifications.
Abstract
Neuroblastoma (NB) is the most frequent extracranial solid childhood tumor. Despite advances in the understanding and treatment of this disease, the prognosis in cases of high-risk NB is still poor. 17q gain has been shown to be the most frequent genomic alteration in NB. However, the significance of this remains unclear because of its high frequency and association with other genetic modifications, particularly segmental chromosomal aberrations, 1p and 11q deletions, and MYCN amplification, all of which are also associated with a poor clinical prognosis. This work reviewed the evidence on the clinical and biological significance of 17q gain. It strongly supports the significance of 17q gain in the development of NB and its importance as a clinically relevant marker. However, it is crucial to distinguish between whole and partial chromosome 17q gains. The most important breakpoints appear to be at 17q12 and 17q21. The former distinguishes between whole and partial chromosome 17q gain; the latter is a site of IGF2BP1 and NME1 genes that appear to be the main oncogenes responsible for the functional effects of 17q gain.
