Fluorescence in situ hybridization in surgical pathology: principles and applications.
Fluorescence in situ hybridization in surgical pathology: principles and applications.
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DOI：
10.1002/cjp2.64
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发表时间：
2017-04
期刊：
影响因子：
--
通讯作者：
Davidson DD
中科院分区：
文献类型：
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作者：
Cheng L;Zhang S;Wang L;MacLennan GT;Davidson DD
复发性肿瘤特异性染色体易位和新型融合癌基因的鉴定具有重要的诊断、治疗和预后意义。在过去的十年中，肿瘤样本的荧光原位杂交（FISH）分析一直是基因组医学和外科病理学实践中增长最快的领域之一。与传统的细胞遗传学不同，FISH 可在常规病理学实践工作流程中对福尔马林固定、石蜡包埋的细胞进行快速分析。随着越来越多的诊断和治疗决策基于 FISH 结果，对该技术的需求将变得更加广泛。 FISH 检测到的常见改变包括染色体缺失、增益、易位、扩增和多体性。这些染色体改变可能对许多肿瘤类型具有诊断和治疗意义。将基因组测试整合到癌症治疗决策中提出了许多技术挑战，但精准医学在克服这些挑战方面正在取得快速进展。 FISH 评估与鉴别诊断和癌症治疗决策相关的染色体变化已成为外科病理学家的重要工具。本综述的目的是提供 FISH 检测易位的理论和实践调查，重点关注外科病理学实践中的临床应用策略。
Identification of recurrent tumour‐specific chromosomal translocations and novel fusion oncogenes has important diagnostic, therapeutic and prognostic implications. Over the past decade, fluorescence in situ hybridization (FISH) analysis of tumour samples has been one of the most rapidly growing areas in genomic medicine and surgical pathology practice. Unlike traditional cytogenetics, FISH affords a rapid analysis of formalin‐fixed, paraffin‐embedded cells within a routine pathology practice workflow. As more diagnostic and treatment decisions are based on results of FISH, demand for the technology will become more widespread. Common FISH‐detected alterations are chromosome deletions, gains, translocations, amplifications and polysomy. These chromosome alterations may have diagnostic and therapeutic implications for many tumour types. Integrating genomic testing into cancer treatment decisions poses many technical challenges, but rapid progress is being made to overcome these challenges in precision medicine. FISH assessment of chromosomal changes relevant to differential diagnosis and cancer treatment decisions has become an important tool for the surgical pathologist. The aim of this review is to provide a theoretical and practical survey of FISH detected translocations with a focus on strategies for clinical application in surgical pathology practice.