FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center
FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center
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DOI：
10.1111/ajco.12980
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发表时间：
2019-02-01
影响因子：
1.9
通讯作者：
O'Toole, Sandra A.
中科院分区：
文献类型：
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作者：
Vargas, Ana Cristina;Selinger, Christina;O'Toole, Sandra A.
目的 荧光原位杂交 (FISH) 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 FISH 对皇家阿尔弗雷德王子医院 (RPAH) 分子病理科常见 BST 实体最终分类的贡献，该医院是澳大利亚最重要的肉瘤治疗转诊中心之一。方法回顾了 5 年期间（2010 年 2 月至 2015 年 11 月）对 RPAH 的 BST 福尔马林固定石蜡包埋 (FFPE) 组织标本进行的所有常规诊断 FISH 测试。本研究中提出的 FISH 分析包括商业分离探针（SS18、FUS、DDIT3、FUS、USP6、PDGFB、TFE3 和 ALK）和单一计数 (MDM2) 探针。结果 BST 样本进行了 434 项可解释的 FISH 检测，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)。 12% 的病例组织病理学诊断与 FISH 结果之间存在差异。在这组不一致的病例中，根据是否存在预期的基因改变，FISH 有助于重新分类 7% 的最初诊断为滑膜肉瘤 (SS18) 的病例和 6% 的脂肪细胞肿瘤 (MDM2)。结论 我们的研究证实，当在适当的临床病理背景下使用时，石蜡 FISH 是诊断 BST 肿瘤的一种敏感且特异的辅助工具。这些发现强调需要进一步的辅助分子工具来诊断和表征具有挑战性的病例。
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.