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Nuclear corepressors NCOR1/NCOR2 regulate B cell development, maintain genomic integrity and prevent transformation.核受体辅阻遏物 NCOR1/NCOR2 调控 B 细胞发育、维持基因组完整性并防止转化。
Nat Immunol. 2022 Dec;23(12):1763-1776. doi: 10.1038/s41590-022-01343-7. Epub 2022 Oct 31.
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Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.儿童和青少年难治性癌症的分子分析。
JAMA Netw Open. 2019 Apr 5;2(4):e192906. doi: 10.1001/jamanetworkopen.2019.2906.
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Frequency of Somatic TP53 Mutations in Combination with Known Pathogenic Mutations in Colon Adenocarcinoma, Non-Small Cell Lung Carcinoma, and Gliomas as Identified by Next-Generation Sequencing.通过下一代测序鉴定的结肠癌、非小细胞肺癌和神经胶质瘤中体细胞 TP53 突变与已知致病性突变的联合频率。
Neoplasia. 2018 Mar;20(3):256-262. doi: 10.1016/j.neo.2017.12.005. Epub 2018 Feb 16.
4
GNAS mutations are present in colorectal traditional serrated adenomas, serrated tubulovillous adenomas and serrated adenocarcinomas with adverse prognostic features.GNAS突变存在于具有不良预后特征的结直肠传统锯齿状腺瘤、锯齿状管状绒毛状腺瘤和锯齿状腺癌中。
Histopathology. 2017 Jun;70(7):1079-1088. doi: 10.1111/his.13180. Epub 2017 Mar 22.
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.癌症序列变异解读与报告的标准和指南：分子病理学协会、美国临床肿瘤学会和美国病理学家学会联合共识推荐
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GNAS gene mutation may be present only transiently during colorectal tumorigenesis.GNAS基因突变可能仅在结直肠癌发生过程中短暂出现。
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
GNAS mutations identify a set of right-sided, RAS mutant, villous colon cancers.GNAS突变可鉴定出一组右侧、RAS突变的绒毛状结肠癌。
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9
Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal.利用 cBioPortal 进行复杂癌症基因组学和临床特征的综合分析
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10
Frequent activating GNAS mutations in villous adenoma of the colorectum.结直肠绒毛状腺瘤中频繁出现的激活型 GNAS 突变。
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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.

DOI:10.2478/abm-2024-0025
PMID:39309469
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11414774/
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 , , , 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.

摘要

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。