# Whole exome sequencing in relapsed or refractory childhood cancer: case series

## TL;DR

This study uses whole exome sequencing to identify genetic changes in relapsed or refractory childhood cancers in Thai patients.

## Contribution

It is the first study to use whole exome sequencing in this context for Thai childhood cancer cases.

## Key findings

- Six different genetic variants were identified in the NCOR2, COL6A3, TP53, and SMAD4 genes.
- The identified genetic alterations are associated with tumor aggressiveness.

## Abstract

The prognosis for relapsed or refractory childhood cancer is approximately 20%. Genetic alterations are one of the significant contributing factors to the prognosis of patients.

To investigate the molecular profile of relapsed or refractory childhood cancers in Thai cases.

The study design is a descriptive study of patients <18 years old, suspected or diagnosed of relapsed or refractory childhood cancer who underwent whole exome sequencing (WES).

WES was successfully performed in both the tumor and the blood or saliva samples obtained from 4 unrelated patients. Six different variants were identified in the NCOR2, COL6A3, TP53, and SMAD4 genes. These alterations were found to be associated with tumor aggressiveness.

This study is the first one to demonstrate genetic alterations by using WES in relapsed or refractory childhood cancer in Thai cases.