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

被引：0
作者：
Thangpong, Rungroj [1 ]
Nuwongsri, Pattarin [2 ]
Ittiwut, Chupong [2 ,3 ]
Ittiwut, Rungnapa [2 ,3 ]
Phokaew, Chureerat [3 ]
Techavichit, Piti [4 ]
Suphapeetiporn, Kanya [2 ,3 ]
机构：
[1] Chulalongkorn Univ, Fac Med, Dept Pediat, Bangkok 10330, Thailand
[2] Thai Red Cross Soc, King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Bangkok, Thailand
[3] Chulalongkorn Univ, Ctr Excellence Med Genom, Med Genom Cluster, Dept Pediat,Fac Med, Bangkok 10330, Thailand
[4] Thammasat Univ, Fac Med, Dept Pediat, Div Hematol & Oncol, Bangkok 10330, Thailand
来源：
ASIAN BIOMEDICINE | 2024年 / 18卷 / 04期
关键词：
exome sequencing; germline mutation; pediatric cancer; sequencing analysis; somatic mutation; JOINT-CONSENSUS-RECOMMENDATION; COLORECTAL-CANCER; GNAS MUTATIONS; P53; MUTATION; ASSOCIATION; GUIDELINES; STANDARDS; VARIANTS; GENETICS; SURVIVAL;
D O I：
10.2478/abm-2024-0025
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
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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收藏
页码：186 / 191
页数：6
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