A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma.

ABSTRACT:

Background

Liquid biopsies do not reflect the complete mutation profile of the tumor but have the potential to identify actionable mutations when tumor biopsies are not available as well as variants with low allele frequency. Most retrospective studies conducted in small cohorts of pediatric cancers have illustrated that the technology yield substantial potential in neuroblastoma.

Aim

The molecular landscape of neuroblastoma harbors potentially actionable genomic alterations. We aimed to study the utility of liquid biopsy to characterize the mutational landscape of primary neuroblastoma using a custom gene panel for ctDNA targeted sequencing.

Methods

Targeted next-generation sequencing (NGS) was performed on ctDNA of 11 patients with primary neuroblastoma stage 4. To

SUBMITTER: Cimmino F 

PROVIDER: S-EPMC7769379 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature