Mazabraud综合征的临床、影像学及病理学特征:1例报道暨文献复习  

Clinical,Radiological and Pathological Features of Mazabraud's Syndrome:A Case Report and Literature Review

作　　者：沈艳[1] 杨通[1] 陈贵东[1] 古婉仪[1] Shen Yan;Yang Tong;Chen Guidong;Gu Wanyi(Department of Pathology,the Second Affiliated Hospital of Guangzhou Medical University,Guangzhou 510260,Guangdong,China)

机构地区：[1]广州医科大学附属第二医院病理科,广州510260

出　　处：《肿瘤预防与治疗》2023年第9期746-752,共7页Journal of Cancer Control And Treatment

摘　　要：目的:探讨Mazabraud综合征的临床、影像学和病理学特征,加深对该病的认识。方法:回顾性分析1例Mazabraud综合征患者的临床、影像学及病理学资料,并复习相关文献。结果:患者女性,57岁,临床表现为左臀部肿物伴左髋部疼痛,影像学示左侧股骨上段、盆骨多发病灶,左侧大腿内侧单发软组织肿块影。术后病理学检查示:(1)左股骨近端病灶:由形态温和的纤维组织和不成熟的编织状新生骨构成,骨小梁形态不规则,呈英文字母样;(2)左臀部肿物:大体边界清楚,切面呈实性,灰白色,胶冻样。镜下肿瘤细胞稀疏,无异型性,无核分裂像,间质富含黏液样基质,血管稀少。免疫组化示:vimentin阳性,Desmin、S-100、SMA、CD34、MUC4均为阴性。最后病理诊断为Mazabraud综合征。结论:Mazabraud综合征是一种以骨的纤维结构不良合并肌内黏液瘤为特征的罕见疾病,好发于中年女性,临床表现缺乏特异性,准确诊断依赖于影像学及病理学检查。Objective:To investigate clinical,radiological and pathological features of Mazabraud's syndrome,and deepen the understanding of the disease.Methods:A retrospective analysis of Mazabraud's syndrome was performed in the present study in terms of clinical data,radiologic and pathological features,together with a literature review.Results:The patient was a 57-yearold female,with clinical signs of left buttock mass and left hip pain.Radiologically,multiple lesions were showed in the left upper femur and pelvis,and a single soft tissue mass in the left medial thigh.Left proximal femur lesion was composed of mild fibrous tissue and immature woven new bone.The shape of bone trabecula was irregular and letter-like.Tumor in the left hip were well-encapsulated,pale white,shiny and gelatinous,and the cut surface of the tumor was solid.Microscopically,the tumor cells and the blood vessels were sparse;the stroma was rich in myxoid matrix;and neither atypia nor mitotic figures were identified.Immunohistochemically,vimentin was positive,while Desmin,S-100,SMA,CD34 and MUC4 were negative.The final pathological diagnosis was Mazabraud's syndrome.Conclusion:Mazabraud's syndrome is a rare disorder characterized by the association of intramuscular myxomas with fibrous dysplasia.It most occurs in middle-aged women and lacks specific clinical signs.Accurate diagnosis depends on imaging and pathological examination.

关 键 词：Mazabraud综合征 纤维结构不良 肌内黏液瘤 GNAS1基因突变 

分 类 号：R738.6[医药卫生—肿瘤]