复发或难治性儿童癌症的全外显子组测序：病例系列。

IF 0.4 4区医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL

Asian Biomedicine Pub Date : 2024-09-20 eCollection Date: 2024-08-01 DOI:10.2478/abm-2024-0025

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

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引用次数: 0

摘要

背景介绍复发或难治性儿童癌症的预后率约为20%。基因改变是影响患者预后的重要因素之一：调查泰国病例中复发或难治性儿童癌症的分子特征：研究设计是对患者进行描述性研究：对 4 名无亲属关系患者的肿瘤和血液或唾液样本成功进行了 WES 检测。在 NCOR2、COL6A3、TP53 和 SMAD4 基因中发现了六种不同的变异。这些变异与肿瘤的侵袭性有关：本研究首次在泰国复发或难治性儿童癌症病例中使用 WES 证明了基因变异。

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

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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来源期刊

Asian Biomedicine 医学-医学：研究与实验

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Asian Biomedicine: Research, Reviews and News (ISSN 1905-7415 print; 1875-855X online) is published in one volume (of 6 bimonthly issues) a year since 2007. [...]Asian Biomedicine is an international, general medical and biomedical journal that aims to publish original peer-reviewed contributions dealing with various topics in the biomedical and health sciences from basic experimental to clinical aspects. The work and authorship must be strongly affiliated with a country in Asia, or with specific importance and relevance to the Asian region. The Journal will publish reviews, original experimental studies, observational studies, technical and clinical (case) reports, practice guidelines, historical perspectives of Asian biomedicine, clinicopathological conferences, and commentaries Asian biomedicine is intended for a broad and international audience, primarily those in the health professions including researchers, physician practitioners, basic medical scientists, dentists, educators, administrators, those in the assistive professions, such as nurses, and the many types of allied health professionals in research and health care delivery systems including those in training.