间皮瘤和其他间皮病变的分子和免疫组化检测。

Yin P Hung, Lucian R Chirieac
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引用次数: 0

摘要

背景分子检测越来越多地被用于间皮瘤的评估。弥漫性间皮瘤由多个不同的基因亚群组成。虽然大多数弥漫性间皮瘤缺乏致癌激酶突变,而是存在涉及肿瘤抑制因子和染色质调节因子的改变,但也有一小部分肿瘤具有不常见的改变,如种系突变、基因组近倍化、ALK重排、ATF1重排或EWSR1::YY1融合:提供弥漫性间皮瘤、原位间皮瘤和其他间皮病变(分化良好的乳头状间皮瘤、腺瘤样肿瘤、腹膜包涵囊肿等)的最新分子特征。我们考虑了分子检测在间皮瘤病变中的诊断、预后和预测作用:我们对最近描述的间皮瘤和其他间皮病变的遗传特征、分子方法和免疫组化工具(包括 BAP1、MTAP 和 merlin)进行了文献综述:我们对弥漫性间皮瘤和其他间皮病变的分子多样性的认识不断发展,导致病理诊断实践发生了很大变化,包括应用免疫组化标记物,如 BAP1、MTAP 和 merlin (NF2),它们是突变状态的替代物。对于年轻患者和/或无明显石棉暴露的患者,应考虑不寻常的间皮瘤遗传学因素,如种系突变、ALK重排和ATF1重排。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular and Immunohistochemical Testing in Mesothelioma and Other Mesothelial Lesions.

Context.—: Molecular testing has increasingly been utilized in the evaluation of mesothelioma. Diffuse mesothelioma comprises multiple distinct genetic subgroups. While most diffuse mesotheliomas lack oncogenic kinase mutations and instead harbor alterations involving tumor suppressors and chromatin regulators, a minor subset of tumors is characterized by uncommon alterations such as germline mutations, genomic near-haploidization, ALK rearrangement, ATF1 rearrangement, or EWSR1::YY1 fusion.

Objective.—: To provide updates on the salient molecular features of diffuse mesothelioma, mesothelioma in situ, and other mesothelial lesions: well-differentiated papillary mesothelial tumor, adenomatoid tumor, peritoneal inclusion cyst, and others. We consider the diagnostic, prognostic, and predictive utility of molecular testing in mesothelial lesions.

Data sources.—: We performed a literature review of recently described genetic features, molecular approaches, and immunohistochemical tools, including BAP1, MTAP, and merlin in mesothelioma and other mesothelial lesions.

Conclusions.—: Our evolving understanding of the molecular diversity of diffuse mesothelioma and other mesothelial lesions has led to considerable changes in pathology diagnostic practice, including the application of immunohistochemical markers such as BAP1, MTAP, and merlin (NF2), which are surrogates of mutation status. In young patients and/or those without significant asbestos exposure, unusual mesothelioma genetics such as germline mutations, ALK rearrangement, and ATF1 rearrangement should be considered.

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