伴有大量透明软骨分化的骨外黏液性软骨肉瘤1例
Extraskeletal myxoid chondrosarcoma with extensive hyaline cartilage differentiation:A case report
潘越 1毕忠君 1刘倩 1张淑坤1
作者信息
- 1. 山东省医药卫生老年消化道肿瘤病理重点实验室,山东大学附属威海市立医院病理科,山东威海 264200
- 折叠
摘要
骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)是一种罕见的恶性间叶源性肿瘤,在所有软组织肉瘤中占比<1%,中位发病年龄约50岁,男女比例约为2꞉1.经典EMC的组织学特征为半透明的胶冻样分叶状结节,肿瘤内可见大量的淡蓝色黏液样间质,一般不存在成熟的透明软骨成分.在分子病理学方面,绝大多数EMC具有染色体t(9;22)(q22;q12)易位,使得NR4A3基因发生重排,并以EWSR1-NR4A3融合基因最常见.经典的EMC通常需与脊索瘤、黏液性脂肪肉瘤、肌上皮瘤/肌上皮癌等多种黏液样肿瘤相鉴别.威海市立医院于2020年11月11日收治1例经PET/CT检查发现"左侧臀部脂肪间隙肿物"患者,手术切除后经常规病理及分子检测确诊为伴有大量透明软骨分化的EMC的罕见病例.临床医生需提高对该类型EMC的诊断能力,以减少误诊、漏诊的发生.
Abstract
Extraskeletal myxoid chondrosarcoma(EMC)is a rare malignant mesenchymal tumor,constituting less than 1%of all soft tissue sarcomas.The median age of onset is around 50 years,with a male to female ratio of approximately 2꞉1.Classic EMC histology features translucent,gelatinous lobulated nodules with abundant light blue myxoid stroma,typically lacking mature hyaline cartilage components.Most EMC exhibit a t(9;22)(q22;q12)chromosomal translocation,leading to NR4A3 gene rearrangement,with the EWSR1-NR4A3 fusion gene being the most common.Classic EMC must be differentiated from chordoma,myxoid liposarcoma,myoepithelioma/myoepithelial carcinoma,and other myxoid tumors.On November 11,2020,Weihai Municipal Hospital treated a patient with a"left gluteal fat gap mass"identified by PET/CT.Post-surgical pathology and molecular testing confirmed a rare case of EMC with extensive hyaline cartilage differentiation.Clinicians should enhance their diagnostic skills for this EMC subtype to reduce misdiagnosis and missed diagnosis.
关键词
骨外黏液性软骨肉瘤/临床病理特征/鉴别诊断/分子检测Key words
extraskeletal myxoid chondrosarcoma/clinical pathological features/differential diagnosis/molecular testing引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据