Pathology Unit, Department of Oncology, Città della Salute e della Scienza Hospital, University of Turin, Turin, Italy.
Pathology Unit, Department of Medical Sciences, Città della Salute e della Scienza Hospital, University of Turin, Turin, Italy.
J Histochem Cytochem. 2023 Jul;71(7):377-385. doi: 10.1369/00221554231184287. Epub 2023 Jun 26.
Synovial sarcoma is a rare malignant mesenchymal neoplasm mostly affecting young adults, characterized by a specific translocation which results in the fusion of the SS18 gene on chromosome 18 with one of the three highly homologous SSX genes on chromosome X. Its morphological diagnosis, especially in monophasic or poorly differentiated variants, can be challenging because histological features often overlap with other malignant mesenchymal tumors. Until recently, the differential diagnosis mostly relied on the use of cytogenetic or molecular analyses to detect the specific t(X;18)(p11;q11) translocation, thus virtually restricting its correct identification to referral centers with a high histological and molecular pathology workflow. The recently commercialized highly sensitive and fusion-specific SS18-SSX antibody has significantly improved the approach to these tumors, representing a relatively cheap and easy to access tool for synovial sarcoma diagnosis. Through a retrospective analysis of 79 synovial sarcomas and histological mimickers, this study confirms the usefulness of the SS18-SSX antibody in the diagnosis of synovial sarcoma, particularly focusing on its application in the pathological response evaluation after neoadjuvant treatment as well as its time- and cost-saving advantages. Finally, we here propose a new diagnostic algorithm to apply into the routine practice.
滑膜肉瘤是一种罕见的恶性间叶性肿瘤,主要影响年轻人,其特征是特定的易位,导致 18 号染色体上的 SS18 基因与 X 染色体上的三个高度同源的 SSX 基因之一融合。其形态学诊断,特别是在单相或低分化变异型中,可能具有挑战性,因为组织学特征经常与其他恶性间叶性肿瘤重叠。直到最近,鉴别诊断主要依赖于细胞遗传学或分子分析来检测特定的 t(X;18)(p11;q11)易位,因此实际上将其正确识别限制在具有高组织学和分子病理学工作流程的转诊中心。最近商业化的高灵敏度和融合特异性 SS18-SSX 抗体显著改善了对这些肿瘤的诊断方法,代表了一种相对便宜且易于获得的滑膜肉瘤诊断工具。通过对 79 例滑膜肉瘤和组织学类似物的回顾性分析,本研究证实了 SS18-SSX 抗体在滑膜肉瘤诊断中的有用性,特别是其在新辅助治疗后病理反应评估中的应用及其节省时间和成本的优势。最后,我们在这里提出了一种新的诊断算法,以应用于常规实践。