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低级别胶质瘤的分子遗传学:指导诊断和治疗干预的基因组改变。第 11 届 Frye-Halloran 脑肿瘤研讨会。

Molecular genetics of low-grade gliomas: genomic alterations guiding diagnosis and therapeutic intervention. 11th annual Frye-Halloran Brain Tumor Symposium.

机构信息

Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

出版信息

Neurosurg Focus. 2013 Feb;34(2):E9. doi: 10.3171/2012.12.FOCUS12349.

Abstract

OBJECT

The authors' goal was to review the current understanding of the underlying molecular and genetic mechanisms involved in low-grade glioma development and how these mechanisms can be targets for detection and treatment of the disease and its recurrence.

METHODS

On October 4, 2012, the authors convened a meeting of researchers and clinicians across a variety of pertinent medical specialties to review the state of current knowledge on molecular genetic mechanisms of low-grade gliomas and to identify areas for further research and drug development.

RESULTS

The meeting consisted of 3 scientific sessions ranging from neuropathology of IDH1 mutations; CIC, ATRX, and FUBP1 mutations in oligodendrogliomas and astrocytomas; and IDH1 mutations as therapeutic targets. Sessions consisted of a total of 10 talks by international leaders in low-grade glioma research, mutant IDH1 biology and its application in glioma research, and treatment.

CONCLUSIONS

The recent discovery of recurrent gene mutations in low-grade glioma has increased the understanding of the molecular mechanisms involved in a host of biological activities related to low-grade gliomas. Understanding the role these genetic alterations play in brain cancer initiation and progression will help lead to the development of novel treatment modalities than can be personalized to each patient, thereby helping transform this now often-fatal malignancy into a chronic or even curable disease.

摘要

目的

作者的目标是回顾目前对低级别胶质瘤发生所涉及的潜在分子和遗传机制的理解,以及这些机制如何成为检测和治疗疾病及其复发的靶点。

方法

2012 年 10 月 4 日,作者召集了来自各种相关医学专业的研究人员和临床医生开会,以回顾关于低级别胶质瘤分子遗传机制的现有知识状况,并确定进一步研究和药物开发的领域。

结果

会议由 3 个科学会议组成,涵盖 IDH1 突变的神经病理学;少突胶质细胞瘤和星形细胞瘤中的 CIC、ATR 和 FUBP1 突变;以及 IDH1 突变作为治疗靶点。会议共包括 10 次国际低级别胶质瘤研究、突变 IDH1 生物学及其在胶质瘤研究中的应用以及治疗方面的国际领先专家的演讲。

结论

最近在低级别胶质瘤中发现的复发性基因突变增加了对涉及多种与低级别胶质瘤相关的生物学活性的分子机制的理解。了解这些遗传改变在脑癌发生和进展中的作用将有助于开发出针对每个患者的个体化治疗模式,从而将这种目前常常致命的恶性肿瘤转变为慢性甚至可治愈的疾病。

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