Synovial sarcoma: the misdiagnosed sarcoma.

IF 4.3 2区医学 Q1 ORTHOPEDICS

Efort Open Reviews Pub Date : 2024-03-05 DOI:10.1530/EOR-23-0193

Chengxiang Li, Fatime Krasniqi, Ricardo Donners, Christoph Kettelhack, Andreas H Krieg

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引用次数: 0

Abstract

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.

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滑膜肉瘤：被误诊的肉瘤。

滑膜肉瘤是一种罕见的高度恶性软组织肉瘤。由于其早期症状不明显且多种多样，因此极易被误诊。由于滑膜肉瘤罕见且预后较差，因此治疗具有挑战性。早期正确的诊断和治疗对临床结果至关重要。误诊或延误诊断会给患者带来毁灭性的后果。SS18 基因重排的检测被认为是确定滑膜肉瘤诊断的有力工具。建议对所有不能排除 SS 的患者进行活组织检查和基因重排检测。手术是治疗滑膜肉瘤的主要方法。对于肿瘤较大（>5 厘米）或切除边缘阳性的患者，建议采用新辅助/辅助放疗；对于高危肿瘤或晚期疾病患者，建议采用新辅助/辅助化疗。本文从滑膜肉瘤的临床和放射学表现、组织学和细胞遗传学分析、鉴别诊断、治疗和预后等方面进行了综述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Efort Open Reviews Medicine-Orthopedics and Sports Medicine

CiteScore

6.60

自引率

2.90%

发文量

101

审稿时长

13 weeks

期刊介绍： EFORT Open Reviews publishes high-quality instructional review articles across the whole field of orthopaedics and traumatology. Commissioned, peer-reviewed articles from international experts summarize current knowledge and practice in orthopaedics, with the aim of providing systematic coverage of the field. All articles undergo rigorous scientific editing to ensure the highest standards of accuracy and clarity. This continuously published online journal is fully open access and will provide integrated CME. It is an authoritative resource for educating trainees and supports practising orthopaedic surgeons in keeping informed about the latest clinical and scientific advances. One print issue containing a selection of papers from the journal will be published each year to coincide with the EFORT Annual Congress. EFORT Open Reviews is the official journal of the European Federation of National Associations of Orthopaedics and Traumatology (EFORT) and is published in partnership with The British Editorial Society of Bone & Joint Surgery.