摘要
目的探讨透明细胞型软骨肉瘤(clear cell chondrosarcoma,CCC)的临床病理特征、诊断和鉴别诊断。方法回顾性分析6例CCC的临床病理学特征、影像学表现、免疫表型及分子遗传学特征,行HE、免疫组化染色及基因检测,并复习相关文献。结果6例中男性4例,女性2例,年龄26~51岁,平均年龄37.8岁;发病部位:股骨4例,肱骨1例,胸椎1例。临床表现均为长期疼痛,2例合并骨折。眼观:手术切除标本肿瘤最大径2.0~8.5 cm;镜检:肿瘤细胞呈分叶状、片状、巢团状分布,瘤细胞胞质透明,小叶中央可见骨小梁或成骨,小叶周围可见散在破骨样巨细胞,2例可见局灶经典型软骨肉瘤成分。免疫表型:肿瘤细胞S-100阳性,1例CKpan阳性,SATB2在骨母细胞中阳性,而在瘤细胞中阴性,Ki-67增殖指数为2%~5%。分子检测示IDH1/IDH2、H3F3A均为野生型。2例于术后14、44个月复发,其中1例同时转移到锁骨。结论CCC属软骨肉瘤亚型,绝大多数位于长骨骨骺和干骺端,以股骨近端最为多见,组织病理学以透明细胞、不规则骨小梁及破骨样多核巨细胞为特征,因其临床多呈低侵袭性,正确识别该亚型可避免临床过度治疗。
Purpose To investigate the clinicopathological features,diagnosis and differential diagnosis of clear cell chondrosarcoma(CCC).Methods Six cases of CCC treated were enrolled,all cases were revaluated by clinical and imaging features,HE stains,immunophenotype and molecular genetics,and the literatures were also reviewed.Results There were 4 male and 2 female patients,and the median age was 37.8 years(range from 26 to 51 years).The tumors were located at femur(4 cases),humerus and thoracic vertebra each.All patients presented with long-term pain,two of them combined with fractures.Grossly,the largest diameter of the tumor in the surgical resection specimen was 2.0-8.5 cm.Microscopically,CCC arranged in sheets and lobular pattern,the tumor cells showed abundant clear cytoplasm.The center of the lobules usually showed osteoid,with osteoclastic giant cells at the edge.Two cases showed areas of conventional chondrosarcoma.Immunohistochemically,the CCC were positive for S-100,one case expressed CKpan.SATB2 was positive in osteoblasts and negative in tumour cells.Ki-67 proliferation index was about 2%-5%.Molecularly,IDH1/IDH2 and H3F3A were wild type.Follow-up:two patients recurred at 14 and 44 months after surgery,and one of them presented metastasis to the clavicle.Conclusion CCC is an extremely rare subtype of chondrosarcoma,most of them arise in the epiphysis and metaphysis of the long bone,especially in the proximal femur.The histological findings were characterized with clear cells,irregular trabeculae of bone,and osteoclastic multinucleated giant cells.Due to the low-grade clinical behavior,the importance of identifying this subtype is to avoid clinical overtreatment as other more aggressive tumors.
作者
鲍美玲
李海
朱岩
汤代军
饶秋
张丽华
赵有财
潘敏鸿
BAO Meiling;LI Hai;ZHU Yan;TANG Daijun;RAO Qiu;ZHANG Lihua;ZHAO Youcai;PAN Minhong(Department of Pathology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China;Department of Pathology,Seventeen Ye Hospital of Maanshan,Maanshan 243000,China;Department of Pathology,Jinling Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing 210000,China;Department of Pathology,Affiliated Zhongda Hospital of Southeast University,Nanjing 210000,China;Department of Pathology,the First Hospital of Nanjing,Jiangsu Province,Nanjing 210000,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2023年第10期1187-1191,共5页
Chinese Journal of Clinical and Experimental Pathology
关键词
软骨肉瘤
透明细胞型
多中心
免疫组织化学
DNA测序
荧光原位杂交
chondrosarcoma
clear cell type
multiple center
immunohistochemical
DNA sequence
fluorescence in situ hybridization
