文章：

恶性外周神经鞘瘤的测序研究综述：发现及其对治疗的意义

A Sequencing Overview of Malignant Peripheral Nerve Sheath Tumors: Findings and Implications for Treatment

原文发布日期：8 January 2025

DOI: 10.3390/cancers17020180

类型: Article

开放获取: 是

英文摘要：

Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive malignancies with a low 5-year survival rate despite current treatments. MPNSTs frequently harbor mutations in key genes such asNF1,CDKN2A,TP53, and PRC2 components (EEDorSUZ12) across different disease stages. With the rapid advancement of high-throughput sequencing technologies, the molecular characteristics driving MPNST development are becoming clearer. This review summarizes recent sequencing studies on peripheral nerve sheath tumors, including plexiform neurofibromas (PNs), atypical neurofibromatous neoplasm with uncertain biologic potential (ANNUBP), and MPNSTs, highlighting key mutation events in tumor progression from the perspectives of epigenetics, transcriptomics, genomics, proteomics, and metabolomics. We also discuss the therapeutic implications of these genomic findings, focusing on preclinical and clinical trials targeting these alterations. Finally, we conclude that overcoming tumor resistance through combined targeted therapies and personalized treatments based on the molecular characteristics of MPNSTs will be a key direction for future treatment strategies.

摘要翻译： 

恶性外周神经鞘瘤（MPNSTs）是一种罕见但侵袭性强的恶性肿瘤，尽管现有治疗手段不断发展，其五年生存率仍处于较低水平。在不同疾病阶段，MPNSTs常携带NF1、CDKN2A、TP53及PRC2复合体组分（EED或SUZ12）等关键基因突变。随着高通量测序技术的快速发展，驱动MPNST发生发展的分子特征日益明晰。本文综述了近年来关于外周神经鞘肿瘤（包括丛状神经纤维瘤、生物学潜能不确定的非典型神经纤维瘤性肿瘤以及恶性外周神经鞘瘤）的测序研究进展，从表观遗传学、转录组学、基因组学、蛋白质组学和代谢组学等多维度系统阐述了肿瘤演进过程中的关键突变事件。同时，我们探讨了这些基因组学发现对临床治疗的启示，重点关注针对这些分子改变的临床前及临床试验。最后我们提出，通过联合靶向治疗及基于MPNST分子特征的个体化治疗方案来克服肿瘤耐药性，将成为未来治疗策略的重要方向。

原文链接：

A Sequencing Overview of Malignant Peripheral Nerve Sheath Tumors: Findings and Implications for Treatment