复发性或难治性儿童癌症的全外显子组测序：病例系列
Whole exome sequencing in relapsed or refractory childhood cancer: case series.
作者信息
Thangpong Rungroj, Nuwongsri Pattarin, Ittiwut Chupong, Ittiwut Rungnapa, Phokaew Chureerat, Techavichit Piti, Suphapeetiporn Kanya
机构信息
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
出版信息
Asian Biomed (Res Rev News). 2024 Sep 20;18(4):186-191. doi: 10.2478/abm-2024-0025. eCollection 2024 Aug.
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 , , , and 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.
背景
复发或难治性儿童癌症的预后约为20%。基因改变是影响患者预后的重要因素之一。
目的
研究泰国复发或难治性儿童癌症病例的分子特征。
方法
本研究为描述性研究，纳入年龄<18岁、疑似或诊断为复发或难治性儿童癌症且接受了全外显子组测序（WES）的患者。
结果
成功对4例无关患者的肿瘤及血液或唾液样本进行了WES。在 、 、 和 基因中鉴定出6种不同变异。这些改变与肿瘤侵袭性相关。
结论
本研究是首次在泰国复发或难治性儿童癌症病例中运用WES证实基因改变。
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