He Xuanhong, Wang Yitian, Zou Chang, Zheng Chuanxi, Luo Yi, Zhou Yong, Tu Chongqi
Department of Orthopedics, Orthopedics Research Institute, West China Hospital, Sichuan University, Chengdu, China.
Bone and Joint 3D-Printing & Biomechanical Laboratory, Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, China.
Front Genet. 2022 Jul 14;13:791675. doi: 10.3389/fgene.2022.791675. eCollection 2022.
Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue sarcoma. In view of the indolent course throughout the prolonged natural history of EMC, it was considered as a low-grade soft-tissue sarcoma. However, recent studies have revealed a high recurrence and metastatic potential in EMC, and the invasiveness of EMC may progress during the protracted clinical course. The mechanism for this aggressive transformation remains unknown. Here, we present a rare case of EMC with aggressive behavior. This case was confirmed pathology and NR4A3 fluorescent hybridization. To verify the genetic characteristics of this rare case, a total gene sequencing analyses was performed in the recurrent and metastatic lesions. Intriguingly, different gene mutations were determined in the recurrent and metastatic lesions, which implied the genetic heterogeneity among the different lesions might be related to the aggressiveness of EMC. Furthermore, we discuss a few potential agents against the mutated genes in this case, which may provide novel insights regarding the targeted therapy of EMC.
骨外黏液样软骨肉瘤（EMC）是一种罕见的软组织肉瘤。鉴于EMC在漫长自然病程中的惰性病程，它曾被视为一种低级别软组织肉瘤。然而，最近的研究显示EMC具有高复发和转移潜能，并且EMC的侵袭性可能在漫长的临床病程中进展。这种侵袭性转变的机制仍然未知。在此，我们报告一例具有侵袭性行为的罕见EMC病例。该病例经病理及NR4A3荧光杂交确诊。为验证这一罕见病例的基因特征，对复发和转移病灶进行了全基因测序分析。有趣的是，在复发和转移病灶中确定了不同的基因突变，这表明不同病灶间的基因异质性可能与EMC的侵袭性有关。此外，我们讨论了针对该病例中突变基因的几种潜在药物，这可能为EMC的靶向治疗提供新的见解。
