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用于软组织和骨肿瘤诊断的荧光原位杂交技术

[Fluorescence in situ hybridization for the diagnosis of soft-tissue and bone tumors].

作者信息

Bertram Stefanie, Schildhaus Hans-Ulrich

机构信息

Institut für Pathologie, Universitätsklinikum Essen, Hufelandstraße 55, 45147, Essen, Deutschland.

出版信息

Pathologe. 2020 Nov;41(6):589-605. doi: 10.1007/s00292-020-00838-0.

Abstract

Mesenchymal tumors, especially high-grade sarcomas, frequently harbor chaotic genotypes. Few tumors arise in association with genetic tumor predisposition syndromes with germline mutations in tumor suppressor genes. An increasing number of soft-tissue and bone tumors are characterized by recurrent genomic alterations, which can be utilized for diagnostic purposes. These include translocations and amplifications and less frequently deletions. These alterations can be detected by fluorescence in situ hybridization among other techniques. The rising number of whole genome sequencing of soft-tissue and bone tumors leads to an improved understanding of tumor genetics. On this basis, fluorescence in situ hybridization has gained relevance as a diagnostic tool. This review covers relevant genetic alterations in lipomatous tumors, soft-tissue tumors with spindle-cell and epithelioid morphology, vascular tumors, small-blue-round-cell tumors, and bone tumors that are detectable by fluorescence in situ hybridization.

摘要

间充质肿瘤,尤其是高级别肉瘤,常常具有混乱的基因型。很少有肿瘤与肿瘤抑制基因发生种系突变的遗传性肿瘤易感性综合征相关。越来越多的软组织和骨肿瘤具有复发性基因组改变的特征,这些改变可用于诊断目的。这些改变包括易位和扩增,较少见的是缺失。这些改变可通过荧光原位杂交等技术检测到。软组织和骨肿瘤全基因组测序数量的增加,有助于更好地理解肿瘤遗传学。在此基础上,荧光原位杂交作为一种诊断工具变得越来越重要。本综述涵盖了脂肪性肿瘤、具有梭形细胞和上皮样形态的软组织肿瘤、血管肿瘤、小蓝圆细胞肿瘤以及可通过荧光原位杂交检测到的骨肿瘤中的相关基因改变。

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