Huang Q, Chen Y P, Song F L, Zheng L M, Liu X Y, Zhang S, Wang X F
Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.
Zhonghua Bing Li Xue Za Zhi. 2021 Aug 8;50(8):870-875. doi: 10.3760/cma.j.cn112151-20210302-00176.
To investigate the clinicopathological features of central nervous system (CNS) mesenchymal chondrosarcoma (MCS). Nine cases of CNS MCS were collected at the First Affiliated Hospital of Fujian Medical University from September 2010 to September 2020. The clinical,imaging,histopathological and immunohistochemical features were reviewed. NCOA2 gene rearrangement was evaluated by fluorescence in situ hybridization (FISH). There were three male and six female patients, with age range of 1 to 59 years (median 31 years). Six cases were intracranial and three cases were intraspinal, and the tumors showed dural attachment. They were often diagnosed as meningioma basing on preoperative imaging. Microscopically, the tumors showed a characteristic biphasic histologic pattern composed of undifferentiated mesenchymal small cells and well-differentiated hyaline cartilage islands. The small cells area were positive for SOX9 (9/9), CD99 (8/9), and without BRG1 and INI1 deletion. The cartilaginous component expressed SOX9 (9/9) and S-100 protein (8/9). NCOA2 gene break apart signal was identified in five cases (5/5). Eight patients were followed up for 4-124 months. Three patients (3/8) had recurrences within one year and two patients died of the tumor. CNS MCS is an extremely rare malignant neoplasm with a propensity to dural involvement. Preoperative imaging has low diagnostic accuracy. CNS MCS should be differentiated from other CNS small round cell tumors and chondrosarcoma. FISH detection of NCOA2 gene rearrangement will assist the diagnosis of MCS.
探讨中枢神经系统（CNS）间叶性软骨肉瘤（MCS）的临床病理特征。收集福建医科大学附属第一医院2010年9月至2020年9月期间9例CNS MCS病例，回顾其临床、影像、组织病理及免疫组化特征。采用荧光原位杂交（FISH）检测NCOA2基因重排。患者3例男性，6例女性，年龄1至59岁（中位年龄31岁）。6例位于颅内，3例位于椎管内，肿瘤均与硬脑膜相连，术前影像学检查常诊断为脑膜瘤。镜下，肿瘤呈现由未分化间叶小细胞和分化良好的透明软骨岛组成的特征性双相组织学模式。小细胞区域SOX9阳性（9/9）、CD99阳性（8/9），无BRG1和INI1缺失。软骨成分表达SOX9（9/9）和S-100蛋白（8/9）。5例（5/5）检测到NCOA2基因断裂信号。8例患者随访4至124个月，3例（3/8）在1年内复发，2例死于肿瘤。CNS MCS是一种极其罕见的恶性肿瘤，倾向于累及硬脑膜，术前影像学诊断准确性低，应与其他CNS小圆细胞肿瘤及软骨肉瘤相鉴别，FISH检测NCOA2基因重排有助于MCS的诊断。
