Section of Dermatology, Department of Medicine, The University of Chicago Medical Center, Chicago, IL 60637, USA.
Adv Anat Pathol. 2011 May;18(3):229-34. doi: 10.1097/PAP.0b013e3182169b69.
Fluorescence in-situ hybridization (FISH) has arisen as a novel ancillary test for the pathological diagnosis of melanoma. It is an outgrowth of studies using comparative genomic hybridization, a technique capable of surveying the entire genome for DNA copy number changes. An original report published in 2009 showed high sensitivity (87%) and specificity (95%) for diagnosing melanoma, using a combination of 4 FISH probes that target 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1), and chromosome 6 centromere. Since then, a number of studies have been published, supporting the high accuracy of FISH for diagnosing melanoma. In addition, various clinicopathological settings where FISH may be particularly useful are explored. FISH tests for melanoma are now commercially available. Meanwhile, questions have been raised by some about the true diagnostic value of FISH, particularly in melanocytic lesions with ambiguous histopathology. This review will briefly introduce the historical development of FISH for melanoma diagnosis and discuss its diagnostic value as well as its potential limitations at present.
荧光原位杂交（FISH）已成为黑色素瘤病理诊断的一种新的辅助检测手段。它是基于比较基因组杂交技术发展而来的，该技术能够检测整个基因组的 DNA 拷贝数变化。2009 年发表的一项原始报告显示，使用针对 6p25（RREB1）、6q23（MYB）、11q13（CCND1）和 6 号染色体着丝粒的 4 种 FISH 探针组合，FISH 对诊断黑色素瘤具有较高的敏感性（87%）和特异性（95%）。此后，许多研究支持 FISH 对黑色素瘤诊断的高准确性。此外，还探讨了 FISH 在多种临床病理环境下可能特别有用的情况。目前，FISH 检测黑色素瘤已商业化。与此同时，一些人对 FISH 的真正诊断价值提出了质疑，特别是在组织学表现不明确的黑色素细胞病变中。这篇综述将简要介绍 FISH 用于黑色素瘤诊断的历史发展，并讨论其目前的诊断价值及其潜在的局限性。
