胼胝体原发性骨外黏液样软骨肉瘤1例并文献复习
摘要
目的探讨胼胝体原发性骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)的临床病理学特征、免疫表型及鉴别诊断。方法对1例胼胝体原发性EMC进行临床病理学及免疫表型分析,并复习相关文献。结果患者男性,40岁,临床表现为进行性头疼加重伴恶心呕吐,MRI示胼胝体见团块状实性占位,并见片状不均匀强化;镜下肿瘤呈分叶状和结节状结构,结节之间为宽窄不等的纤维结缔组织间隔,结节由瘤细胞和黏液样基质组成。瘤细胞呈梭形、短梭形、卵圆形、上皮样、横纹肌样(或浆细胞样)。胞质少到中等,胞质淡染,部分胞质丰富,嗜酸性,可见胞质内空泡或胞质内嗜酸性包涵体。核分裂象少见(<2个/10HPF),可见肿瘤性坏死。免疫表型:肿瘤细胞强阳性表达vimentin,弱阳性表达CD99、NSE,灶状表达S-100,不表达CK广谱、EMA、CD99、Myo D1、GFAP、Olig-2等,Ki-67增殖指数约25%。细胞遗传学表现为t(9;22)(q22;q12)易位,检测到EWSR1-NR4A3融合性基因。结论胼胝体原发性EMC罕见,确诊主要依靠形态学及免疫组化标记,必要时分子病理学检查有帮助。临床及病理均需与脊索瘤、肌上皮瘤/肌上皮癌、脊索样脑膜瘤、伴有黏液背景的胶质肉瘤等肿瘤相鉴别,治疗以手术切除为主,预后较好。
引文
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[7]岳振营,董艳光,胡营营,等.中枢神经系统非典型畸胎瘤/横纹肌样瘤6例临床病例分析[J].诊断病理学杂志,2016,23(9):655-658.
[8]Stacchiottis,Pantaleo M A,Astolfi A,et al.Activity of sunitinib in extraskeletal myxoid chondrosarcoma[J].Eur J Cancer,2014,50(9):1657-1664.
[9]Oliveira A M,Sebo T J,Mc Grory J E,et al.extraskeletal myxoid chondrosarcoma:a clinicopathologic,immunohistochemical,and ploidyanalysis of 23 cases[J].Mod Pathol,2000,13(8):900-908.
[2]韩安家,赖日权.软组织肿瘤病理学[M].北京:科学出版社,2015:436-438.
[3]黄文勇,徐晓,胡佳莉,等.骨外黏液样软骨肉瘤5例并文献复习[J].临床与实验病理学杂志,2014,30(9):1026-1029.
[4]Zhou Q,Lu G,Liu A,Kohno T.Extraske Ietal myxoid chondrosarcoma in the lung:asymptomatic lung mass with severe anemia[J].Diagn Pathol,2012,7:112.
[5]Sawada M,Tochigi N,Sasajima Y,et al.Primary extraske Ietal myxoid chondrosarcoma of the vulva[J].J Obstet Gynaecol Res,2011,37(11):1706-1710.
[6]Park J H,Kim M J,Kim C J.Intracranial extraskeletal myxoid chondrosarcoma:case report and literature review[J].J Korean Neurosurg Soc,2012,52(3):246-249.
[7]岳振营,董艳光,胡营营,等.中枢神经系统非典型畸胎瘤/横纹肌样瘤6例临床病例分析[J].诊断病理学杂志,2016,23(9):655-658.
[8]Stacchiottis,Pantaleo M A,Astolfi A,et al.Activity of sunitinib in extraskeletal myxoid chondrosarcoma[J].Eur J Cancer,2014,50(9):1657-1664.
[9]Oliveira A M,Sebo T J,Mc Grory J E,et al.extraskeletal myxoid chondrosarcoma:a clinicopathologic,immunohistochemical,and ploidyanalysis of 23 cases[J].Mod Pathol,2000,13(8):900-908.