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文章:

BAP1基因突变与胸膜间皮瘤:遗传学见解、临床意义及治疗前景

BAP1 Mutations and Pleural Mesothelioma: Genetic Insights, Clinical Implications, and Therapeutic Perspectives

原文发布日期:6 May 2025

DOI: 10.3390/cancers17091581

类型: Article

开放获取: 是

 

英文摘要:

Pleural mesothelioma (PM) is a locally aggressive tumor associated with asbestos exposure. Despite legislative efforts to regulate asbestos use, its incidence continues to rise in some parts of the world. Chemotherapy and immunotherapy have improved survival in PM patients, but overall survival remains poor. Molecular analysis of PM patients has shown that most alterations occur in tumor suppressor genes, with BAP1 being the most frequently affected. Patients with germline BAP1 mutations have been reported to have a better prognosis, but this is not observed in those with somatic mutations. Interest in developing drugs targeting patients with BAP1 loss has led to several phase II studies in recent years. Unfortunately, initial results have not been very promising. In this review, we conclude that, at this time, with the contradictory results from studies and the limited number of patients evaluated, BAP1, the most commonly altered gene in PM, is not yet suitable for use in clinical practice as a prognostic or predictive factor. Future studies are needed to establish the prognostic or predictive value of BAP1.

 

摘要翻译: 

胸膜间皮瘤是一种与石棉暴露相关的局部侵袭性肿瘤。尽管已通过立法手段规范石棉使用,但其发病率在全球某些地区仍持续上升。化疗和免疫疗法虽改善了胸膜间皮瘤患者的生存状况,但总体生存率依然不容乐观。分子分析显示,胸膜间皮瘤患者的基因变异主要集中于抑癌基因,其中BAP1基因突变最为常见。现有研究表明,胚系BAP1突变患者预后较好,但这一现象在体细胞突变患者中并未显现。近年来针对BAP1缺失患者的靶向药物研发已推动多项II期临床试验,然而初步结果尚未展现出显著疗效。本综述认为,基于当前研究结果的矛盾性及有限的患者样本量,尽管BAP1是胸膜间皮瘤中最常发生变异的基因,但其尚不具备作为预后或预测因子应用于临床实践的充分证据。未来仍需进一步研究以确立BAP1的预后或预测价值。

 

 

原文链接:

BAP1 Mutations and Pleural Mesothelioma: Genetic Insights, Clinical Implications, and Therapeutic Perspectives

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