Mazabraud综合征临床病理特征

Clinicopathological characteristics of Mazabraud syndrome

目的探讨Mazabraud综合征的病因、临床表现和病理特征。方法报道国内首例Mazabraud综合征,用常规HE及黏液染色、免疫组织化学染色(EnVision法)作显微镜下观察并进行文献复习。结果Mazabraud综合征的纤维结构不良镜下由良性增生梭形纤维组织及不成熟编织骨构成,骨小梁纤细,排列不规则,无极性。肌内黏液瘤大体边界清楚,灰白色,半透明胶冻状,有光泽及粘滑感。镜下肿瘤富含大量黏液样基质,细胞稀疏,细胞小,胞质少,呈星状突起,核小而深染,细胞无异型性,无核分裂象。肿瘤边缘浸润横纹肌组织。黏液染色(Alcian blue)黏液基质阳性。免疫标记肿瘤细胞vimentin阳性。结论Mazabraud综合征是一种罕见的疾病,以骨的纤维结构不良(fibrous dysplasia,FD)合并肌内黏液瘤(intramuscular myxomas,IM),或McCune-Albright综合征(McCune-Albright syndrome,MAS)(即多骨性纤维结构不良、皮肤咖啡-牛奶斑伴多种内分泌功能亢进)合并肌内黏液瘤为特征,病因与Gsα基因突变有关。

Purpose To study clinicopathological characteristics of Mazabraud syndrome （MS） by reported the first case of Mazabraud syndrome in China with literature review. Methods Routine HE and mucin staining and immunohistoehemistry were performed and the data were reviewed under a light microscope. Results Grossly, intramuscular myxoma was well defined, grayish white, and shiny gelatinous. Microscopically, fibrous dysplasia in Mazabraud syndrome consisted of proliferating spindly fibrous cells and immature woven bony trabeculae features, which appeared curvy thinning and arranged randomly. Moreover, the tumor was hypoeellular with abundant myxoid stroma. The tumor cells were small and stellate containing scant cytoplasm and small dense nuclei. Cytological atypia and mitotic figure were absent. In peripheral areas, tumor cells extended into adjacent skeletal muscle. Mucin staining （ Alcian blue） was positive in myxoid component, and tumor cells were positively stained for vimentin Conclusions Mazabraud syndrome is a rare dis- ease, which is defined as fibrous dysplasia associated with intramuscular myxoma, or McCune-Albright syndrome （MAS） （polyostotic fibrous dysplasia, caft-an-lait spots, and multiple endocrine disorders） with intramuscular myxoma. Development of MS may be related to the Gsα gene mutation.