Li Chengxiang, Krasniqi Fatime, Donners Ricardo, Kettelhack Christoph, Krieg Andreas H
Department of Orthopedic, University Children´s Hospital (UKBB), Basel, Switzerland.
University of Basel, Basel, Switzerland.
EFORT Open Rev. 2024 Mar 5;9(3):190-201. doi: 10.1530/EOR-23-0193.
Synovial sarcoma is a rare and highly malignant soft tissue sarcoma. The inconspicuous and diversity of its early symptoms make it a highly misdiagnosed disease. The management of synovial sarcomas is challenging as they are rare and have a poor prognosis. Early and correct diagnosis and treatment are critical for clinical outcomes. Misdiagnosis or delayed diagnosis can have devastating consequences for the patient. The detection of SS18 gene rearrangement is considered a powerful tool in establishing the diagnosis of synovial sarcomas. Biopsies and testing for gene rearrangements are recommended for all patients in whom SS cannot be excluded. Surgery is the mainstay of treatment for synovial sarcomas. Neoadjuvant/adjuvant radiotherapy is recommended for patients with big tumors (>5 cm) or positive resection margins, and neoadjuvant/adjuvant chemotherapy is recommended for patients with high-risk tumors or advanced diseases. This article reviews synovial sarcomas from the perspectives of clinical and radiological presentation, histological and cytogenetic analysis, differential diagnosis, treatment, and prognosis.
滑膜肉瘤是一种罕见且高度恶性的软组织肉瘤。其早期症状不明显且具有多样性，这使其成为一种极易被误诊的疾病。滑膜肉瘤的治疗具有挑战性，因为它们罕见且预后较差。早期且正确的诊断和治疗对临床结果至关重要。误诊或延迟诊断可能给患者带来毁灭性后果。检测SS18基因重排被认为是确立滑膜肉瘤诊断的有力工具。对于所有不能排除滑膜肉瘤的患者，建议进行活检及基因重排检测。手术是滑膜肉瘤治疗的主要手段。对于肿瘤较大（>5 cm）或手术切缘阳性的患者，建议进行新辅助/辅助放疗；对于高危肿瘤或晚期疾病患者，建议进行新辅助/辅助化疗。本文从临床和影像学表现、组织学和细胞遗传学分析、鉴别诊断、治疗及预后等方面对滑膜肉瘤进行综述。
