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本文探讨了分子生物学技术在石蜡包埋软组织小圆细胞肿瘤中的应用及诊断价值。对诊断未确定软组织小圆细胞肿瘤3例,在光镜组织形态学初步诊断和免疫组织化学初步鉴别诊断后,经RT-PCR技术检测特异性融合基因的表达并测序证实最后确诊为尤因氏/原始神经外胚层瘤、腺泡状横纹肌肉瘤、粘液脂肪肉瘤。分别检测出EWS-FLI1融合基因表达1例,PAX3-FKHR融合基因表达1例,TLS-CHOP融合基因表达1例。因此,分子生物学技术为临床软组织小圆细胞肿瘤疑难病例的诊断和鉴别诊断提供了一种可靠、方便、快速有效的技术手段。
This article explored the application of molecular biology techniques in paraffin-embedded soft tissue small round cell tumors and its diagnostic value. In the diagnosis of undetermined small soft tissue tumors of the tumor in 3 cases, preliminary diagnosis of light microscopic histomorphology and immunohistochemistry after the initial differential diagnosis by RT-PCR technology to detect specific fusion gene expression and sequencing confirmed the final diagnosis of Ewing’s / Primitive neuroectodermal tumor, alveolar rhabdomyosarcoma, mucinous liposarcoma. One case of EWS-FLI1 fusion gene, one case of PAX3-FKHR fusion gene and one case of TLS-CHOP fusion gene were detected respectively. Therefore, molecular biology technology provides a reliable, convenient, rapid and effective technical means for the diagnosis and differential diagnosis of difficult cases of soft tissue small round cell tumors.