Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.
Cancer Cytopathol. 2013 Nov;121(11):610-9. doi: 10.1002/cncy.21303. Epub 2013 Apr 30.
The detection of aneuploidy by fluorescence in situ hybridization (FISH) has revolutionized how laboratories diagnose cholangiocarcinoma and pancreatic adenocarcinoma using cytology specimens. Numerous clinical studies have demonstrated that FISH increases the diagnostic sensitivity of routine cytology for detecting pancreatobiliary tract malignancy with minimal decreases in clinical specificity. FISH also provides useful information in difficult clinical scenarios, including the assessment of patients with biliary strictures who have equivocal cytology results and the assessment of patients with primary sclerosing cholangitis who have clinical features suggestive of malignancy. The improved ability to detect pancreatobiliary tract cancers offers the possibility of earlier detection when patients are amenable to surgical intervention and can decrease health care costs by reducing the amount of clinical evaluation required to arrive at a cancer diagnosis. Cytopathology personnel should maintain familiarity with molecular cytology testing methodologies, because morphologic and aneuploidy assessment of tumors will continue to be an integral part of large-scale genome analyses of individual tumors.
荧光原位杂交（FISH）检测技术的出现使实验室能够利用细胞学标本诊断胆管癌和胰腺腺癌，这一技术带来了革命性的变化。大量临床研究表明，FISH 检测可提高常规细胞学检测对胰胆管恶性肿瘤的诊断敏感性，同时临床特异性的降低微乎其微。在一些困难的临床情况下，FISH 检测也能提供有用的信息，包括对细胞学结果不确定的胆道狭窄患者的评估，以及对有恶性肿瘤临床特征的原发性硬化性胆管炎患者的评估。提高了对胰胆管癌的检测能力，为那些可接受手术干预的患者提供了更早发现癌症的可能，并通过减少得出癌症诊断所需的临床评估量，降低了医疗保健成本。细胞病理学人员应熟悉分子细胞学检测方法，因为对肿瘤的形态学和非整倍体评估将继续成为对个体肿瘤进行大规模基因组分析的重要组成部分。
