分子生物学技术在软组织小圆细胞肿瘤疑难病例中的诊断价值

Application and Diagnostic Value of Cytogenetic and Molecular Techniques in Soft Tissue Small Round Cell Tumor

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。

Objective to investigate the Application and diagnostic value of cytogenetic and molecular techniques in soft tissue small round cell tumor（STSRCT）. Methods：combined histomorphology and immunohistochemistry to classify and differential diagnosis preliminaryly, then use RT-PCR to detect the variety of fision transcripts in 3 cases of clinical consultation STSRCT and made final diagnosis. Results Sequencing indicated, one case is EWS-FLI1, others is PAX3- FKHR and TLS-CHOP, diagnose Ewing＇ s sarcoma/Peripheral primitive neuroectodermal tumors（ES/PNET）, Alveolar rhabdomyosarcoma（ARMS） and Mckoid liposarcoma （MLS） respectively. Conclusion： cytogenetic and molecular techniques provides a reliable, convenient and useful diagnostic tool to confirm the diagnosis of difficult cases in clinic STSRCT.