首页|伴有大量透明软骨分化的骨外黏液性软骨肉瘤1例

伴有大量透明软骨分化的骨外黏液性软骨肉瘤1例

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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.
Extraskeletal myxoid chondrosarcoma with extensive hyaline cartilage differentiation:A case report
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.

extraskeletal myxoid chondrosarcomaclinical pathological featuresdifferential diagnosismolecular testing

潘越、毕忠君、刘倩、张淑坤

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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

骨外黏液性软骨肉瘤 临床病理特征 鉴别诊断 分子检测

2024

临床与病理杂志
中南大学

临床与病理杂志

CSTPCD
影响因子:0.559
ISSN:1673-2588
年,卷(期):2024.44(5)