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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.
Afiliação
  • Thangpong R; Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Nuwongsri P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
  • Ittiwut C; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
  • Ittiwut R; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Phokaew C; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
  • Techavichit P; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Suphapeetiporn K; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Asian Biomed (Res Rev News) ; 18(4): 186-191, 2024 Aug.
Article em En | MEDLINE | ID: mdl-39309469
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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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article