Stacchiotti Silvia, Baldi Giacomo Giulio, Morosi Carlo, Gronchi Alessandro, Maestro Roberta
Medical Oncology Unit 2, Cancer Medicine Department, Fondazione IRCCS Istituto Nazionale Tumori, 20133 Milan, Italy.
"Sandro Pitigliani" Medical Oncology Department, Hospital of Prato, 59100 Prato, Italy.
Cancers (Basel). 2020 Sep 21;12(9):2703. doi: 10.3390/cancers12092703.
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare mesenchymal neoplasm with uncertain differentiation, which arises mostly in the deep soft tissue of proximal extremities and limb girdles. EMC is marked by a translocation involving the gene, which can be fused in-frame with different partners, most often or . Although EMC biology is still poorly defined, recent studies have started shedding light on the specific contribution of NR4A3 chimeric proteins to EMC pathogenesis and clinical outcome. Standard treatment for localized disease is surgery, plus or minus radiation therapy with an expected prolonged survival even though the risk of relapse is about 50%. In advanced cases, besides the standard chemotherapy currently used for soft tissue sarcoma, antiangiogenic agents have recently shown promising activity. The aim of this review is to provide the state of the art of treatment for localized and advanced disease, with a focus on pharmacological treatments available for EMC. The biological basis of current research and future perspectives will be also discussed.
骨外黏液样软骨肉瘤（EMC）是一种极为罕见的间叶性肿瘤，其分化情况尚不明确，主要发生于近端肢体和肢带的深部软组织。EMC的特征是涉及 基因的易位，该基因可与不同伙伴基因进行读码框内融合，最常见的伙伴基因是 或 。尽管EMC的生物学特性仍未明确界定，但最近的研究已开始揭示NR4A3嵌合蛋白对EMC发病机制和临床结局的具体作用。局限性疾病的标准治疗方法是手术，联合或不联合放射治疗，即使复发风险约为50%，预期生存期仍会延长。在晚期病例中，除了目前用于软组织肉瘤的标准化疗外，抗血管生成药物最近已显示出有前景的活性。本综述的目的是提供局限性和晚期疾病的治疗现状，重点关注EMC可用的药物治疗。还将讨论当前研究的生物学基础和未来展望。
