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首页> 外文期刊>Asia-Pacific journal of clinical oncology >FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center
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FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center

机译：选择软组织肿瘤的鱼分析：第三级中心的诊断经验

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Aim Fluorescence in situ hybridization (FISH) is an important ancillary tool for the classification of bone/soft tissue (BST) tumors. The aim of this study was to evaluate the contribution of FISH to the final classification of common BST entities in the molecular pathology department of the Royal Prince Alfred Hospital (RPAH), which is one of the most important referral centers for the management of sarcomas in Australia. Methods All routine diagnostic FISH tests performed on BST formalin-fixed paraffin embedded (FFPE) tissue specimens at the RPAH in a 5-year period (February, 2010-November, 2015) were reviewed. FISH analyses presented in this study include commercial break-apart probes (SS18, FUS, DDIT3, FUS, USP6, PDGFB, TFE3 and ALK) and a single enumeration (MDM2) probe. Results There were 434 interpretable FISH assays on BST samples including MDM2 (n=180), SS18 (n=97), FUS (n=64), DDIT3 (n=37), USP6 (n=30), PDGFB (n=13), TFE3 (n=8) and ALK (n=5). Discrepancies between the histopathological diagnosis and the FISH results were seen in 12% of the cases. In this subset of discordant cases, FISH contributed to the re-classification of 7% of cases originally diagnosed as synovial sarcoma (SS18) and 6% of adipocytic neoplasms (MDM2) based on the presence or absence of the expected gene alteration. Conclusion Our study confirms that paraffin FISH is a sensitive and specific ancillary tool in the diagnosis of BST neoplasms when used in the appropriate clinicopathological context. These findings highlight the need for further ancillary molecular tools in the diagnosis and characterization of challenging cases.
机译：原位杂交（鱼类）的目标荧光是骨/软组织（BST）肿瘤分类的重要辅助工具。本研究的目的是评估鱼类皇家阿尔弗雷德医院分子病理部（RPAH）分子病理署中共同BST实体的最终分类的贡献，这是萨马拉斯管理中最重要的推荐中心之一澳大利亚。方法审查了在5年期间对RPAH的BST福尔马林固定的石蜡嵌入式（FFPE）组织标本进行的所有常规诊断鱼试验（2015年2月，2015年2月）。本研究中提出的鱼类分析包括商业分崩离析探针（SS18，FU，DDIT3，FUS，USP6，PDGFB，TFE3和ALK）和单一枚举（MDM2）探针。结果在BST样品上存在434个可解释的鱼类测定，包括MDM2（n = 180），SS18（n = 97），FUS（n = 64），DDIT3（n = 37），USP6（n = 30），PDGFB（n = 13），TFE3（n = 8）和ALK（n = 5）。组织病理学诊断与鱼类结果之间的差异在12％的病例中看到。在这种不转病例的子集中，鱼类的重新分类为7％的案例，最初被诊断为滑膜肉瘤（SS18）和6％的脂肪细胞肿瘤（MDM2），基于预期基因改变的存在或不存在。结论我们的研究证实，在适当的临床病理背景下使用时，石蜡鱼是一种敏感和特异性的辅助工具，诊断BST肿瘤。这些发现突出了进一步辅助分子工具的需要在挑战性案件的诊断和表征中。

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