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脑膜瘤基因组学:诊断、预后及治疗应用

Meningioma Genomics: Diagnostic, Prognostic, and Therapeutic Applications.

作者信息

Bi Wenya Linda, Zhang Michael, Wu Winona W, Mei Yu, Dunn Ian F

机构信息

Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School , Boston, MA , USA.

出版信息

Front Surg. 2016 Jul 6;3:40. doi: 10.3389/fsurg.2016.00040. eCollection 2016.

Abstract

There has been a recent revolution in our understanding of the genetic factors that drive meningioma, punctuating an equilibrium that has existed since Cushing's germinal studies nearly a century ago. A growing appreciation that meningiomas share similar biologic features with other malignancies has allowed extrapolation of management strategies and lessons from intra-axial central nervous system neoplasms and systemic cancers to meningiomas. These features include a natural proclivity for invasion, frequent intratumoral heterogeneity, and correlation between biologic profile and clinical behavior. Next-generation sequencing has characterized recurrent somatic mutations in NF2, TRAF7, KLF4, AKT1, SMO, and PIK3CA, which are collectively present in ~80% of sporadic meningiomas. Genomic features of meningioma further associate with tumor location, histologic subtype, and possibly clinical behavior. Such genomic decryption, along with advances in targeted pharmacotherapy, provides a maturing integrated view of meningiomas. We review recent advances in meningioma genomics and probe their potential applications in diagnostic, therapeutic, and prognostic frontiers.

摘要

最近,我们对驱动脑膜瘤的遗传因素的理解发生了一场革命,打破了自近一个世纪前库欣的开创性研究以来一直存在的平衡。人们越来越认识到,脑膜瘤与其他恶性肿瘤具有相似的生物学特征,这使得管理策略以及从轴内中枢神经系统肿瘤和系统性癌症中汲取的经验教训能够外推至脑膜瘤。这些特征包括天然的侵袭倾向、频繁的肿瘤内异质性,以及生物学特征与临床行为之间的相关性。二代测序已鉴定出NF2、TRAF7、KLF4、AKT1、SMO和PIK3CA中的复发性体细胞突变,这些突变共同存在于约80%的散发性脑膜瘤中。脑膜瘤的基因组特征进一步与肿瘤位置、组织学亚型以及可能的临床行为相关联。这种基因组解密,以及靶向药物治疗的进展,为脑膜瘤提供了一个逐渐成熟的综合视角。我们回顾了脑膜瘤基因组学的最新进展,并探讨了它们在诊断、治疗和预后领域的潜在应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4470/4933705/52e094bda7ee/fsurg-03-00040-g001.jpg

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