Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Genes Chromosomes Cancer. 2020 May;59(5):318-324. doi: 10.1002/gcc.22834. Epub 2020 Jan 31.
Diagnostic histopathology of soft tissue tumors can be troublesome as many entities are quite rare and have overlapping morphologic features. Many soft tissue tumors harbor tumor-defining gene translocations, which may provide an important ancillary tool for tumor diagnosis. The NanoString nCounter platform enables multiplex detection of pre-defined gene fusion transcripts in formalin-fixed and paraffin-embedded tissue. A cohort of 104 soft tissue tumors representing 20 different histological types was analyzed for the expression of 174 unique gene fusion transcripts. A tumor-defining gene fusion transcript was detected in 60 cases (58%). Sensitivity and specificity of the NanoString assay calculated against the result of an alternative molecular method were 85% and 100%, respectively. Highest diagnostic coverage was obtained for Ewing sarcoma, synovial sarcoma, myxoid liposarcoma, alveolar rhabdomyosarcoma, and desmoplastic small round cell tumor. For these tumor types, the NanoString assay is a rapid, cost-effective, sensitive, and specific ancillary screening tool for molecular diagnosis. For other sarcomas, additional molecular testing may be required when a translocation transcript is not identified with the current 174 gene fusion panel.
软组织肿瘤的诊断组织病理学可能会很麻烦，因为许多实体瘤非常罕见，并且具有重叠的形态学特征。许多软组织肿瘤存在肿瘤定义基因易位，这可能为肿瘤诊断提供重要的辅助工具。 NanoString nCounter 平台可用于检测福尔马林固定和石蜡包埋组织中预先定义的基因融合转录本的多重检测。对代表 20 种不同组织学类型的 104 种软组织肿瘤进行了分析，以检测 174 种独特的基因融合转录本。在针对替代分子方法的结果计算时，NanoString 检测法的敏感性和特异性分别为 85%和 100%。Ewing 肉瘤、滑膜肉瘤、黏液样脂肪肉瘤、腺泡状横纹肌肉瘤和促结缔组织增生性小圆细胞肿瘤的诊断覆盖率最高。对于这些肿瘤类型，NanoString 检测法是一种快速、具有成本效益、敏感且特异性的辅助分子诊断筛选工具。对于其他肉瘤，当当前的 174 个基因融合面板未识别出易位转录本时，可能需要进行其他分子检测。
