Gene Rearrangement Detection in Pediatric Leukemia

Key points

Introduction

Cancer is understood to be a genetic disease. In pediatric leukemias, as in other cancer types, genetic alterations lead to dysregulation of cellular processes and, ultimately, to malignancy. There are many types of clinically significant genetic alterations. General categories of alterations include sequence mutations, such as single nucleotide changes (single nucleotide variants [SNVs]) and small insertions and deletions (indels), and structural mutations, such as copy number changes (copy number variants [CNVs]) and chromosomal rearrangements. Structural mutations gain significance when they result in oncogenic gene fusions or gene dysregulation. Pediatric tumors in particular, which generally have a low overall mutation rate compared with adult tumors, have a high frequency of tumors where a gene rearrangement is the oncogenic driver. ^1 , 2 This article provides an overview of different methods to detect these gene rearrangements.