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

Thangpong, Rungroj; Nuwongsri, Pattarin; Ittiwut, Chupong; Ittiwut, Rungnapa; Phokaew, Chureerat; Techavichit, Piti; Suphapeetiporn, Kanya

doi:10.2478/abm-2024-0025

Abstract

Background

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.

Objective

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

Methods

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).

Results

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.

Conclusion

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

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