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[病理学中的分子诊断]

[Molecular diagnostics in pathology].

作者信息

Stenzinger A, Penzel R, Endris V, Weichert W

机构信息

Institut für Pathologie, Universitätsklinikum Heidelberg.

出版信息

Dtsch Med Wochenschr. 2013 May;138(20):1061-8. doi: 10.1055/s-0033-1343106. Epub 2013 May 13.

Abstract

Tissue-based molecular diagnostics is a fast growing diagnostic field, which already complements morphologic classifications in many cases. Pathology based molecular diagnosis is performed almost exclusively on paraffin embedded material and always in conjunction with histopathology. Besides the classic field of tissue based detection of pathogenic organisms such as bacteria, viruses and fungi, molecular diagnostics of tumor tissue is one of the current hot topics in oncology. In this context the detection of predictive molecular biomarkers, such as specific mutations, allows patient stratification for individually tailored treatment strategies and thereby is one of the key components of individualized patient care in oncology. The rapidly growing number of clinically relevant predictive biomarkers together with impressive technical advances, specifically the development of massive parallel sequencing, will modify the care of patients with malignant diseases. Pathology, therefore, has returned in the very center of interdisciplinary patient care.

摘要

基于组织的分子诊断是一个快速发展的诊断领域,在许多情况下已经补充了形态学分类。基于病理学的分子诊断几乎完全在石蜡包埋材料上进行,并且总是与组织病理学结合进行。除了基于组织检测致病生物体(如细菌、病毒和真菌)的经典领域外,肿瘤组织的分子诊断是肿瘤学当前的热门话题之一。在这种情况下,检测预测性分子生物标志物(如特定突变)可对患者进行分层,以制定个性化的治疗策略,因此是肿瘤学个性化患者护理的关键组成部分之一。临床相关预测生物标志物的数量迅速增加,加上令人印象深刻的技术进步,特别是大规模平行测序的发展,将改变恶性疾病患者的护理方式。因此,病理学已重新回到跨学科患者护理的核心位置。

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