CAJ | 학술논문

目的：探讨荧光原位杂交( fluorescence in situ hybridization, FISH)法在尤因肉瘤家族肿瘤( Ewing family tumor, EFT)石蜡包埋组织中检测EWSR1基因易位的可行性及其在临床病理学中的应用价值。方法收集4例EFT疑难病例,观察临床病理学特点,并采用EWSR1双色分离型探针检测EWSR1基因是否断裂。另以15例其他类型的软组织肿瘤作阴性对照。结果4例EFT 疑难病例的EWSR1基因均出现易位,对临床特点、病理学形态或免疫表型不典型的EFT 病例具有辅助诊断价值。结论 FISH 检测EWSR1基因易位可作为EFT 诊断的重要辅助依据,诊断时仍需结合病理形态学和免疫表型综合判断。
목적：탐토형광원위잡교( fluorescence in situ hybridization, FISH)법재우인육류가족종류( Ewing family tumor, EFT)석사포매조직중검측EWSR1기인역위적가행성급기재림상병이학중적응용개치。방법수집4례EFT의난병례,관찰림상병이학특점,병채용EWSR1쌍색분리형탐침검측EWSR1기인시부단렬。령이15례기타류형적연조직종류작음성대조。결과4례EFT 의난병례적EWSR1기인균출현역위,대림상특점、병이학형태혹면역표형불전형적EFT 병례구유보조진단개치。결론 FISH 검측EWSR1기인역위가작위EFT 진단적중요보조의거,진단시잉수결합병리형태학화면역표형종합판단。
Purpose To evaluate the application of fluorescence in situ hybridization ( FISH) in detection of EWSR1 gene translocation in formalin-fixed paraffin-embedded tissue samples of Ewing family tumor ( EFT) . Methods Four cases of EFT were collected and their clinical pathological features were obsered. Interphase FISH was carried out in paraffin-embedded tissue of EFT cases, using a EWSR1 dual colar break-apart probe. Fifteen cases of other soft tissue tumor were selected as negative control. Results Translocation of EWSR1 was detected in four EFT cases, which may be a adjuvantly diagnositic value for the diagnosis of atypical cases. Conclu-sions FISH may serve as an adjunctive diagnostic tool in problematic cases of EFT, however, FISH results should be interpreted con-cerning clinical pathological features, morphological patterns and immunohistological results.