肌纤维母细胞瘤伴黏液样变性1例并文献复习OACSTPCD
Myofibroblastoma with myxoid degeneration:A case report and literature review
肌纤维母细胞瘤(myofibroblastoma,MFB)伴黏液样变性是一种少见的间叶源性良性肿瘤.1例42岁女性MFB患者,发现右侧腹股沟无痛性肿块1年,肿块表面光滑,切面灰褐、实性、质中,呈结节状.镜下见肿瘤背景黏液丰富,瘤细胞圆形或短梭形排列成不规则条束状,胞质丰富、嗜酸性,部分细胞核空泡明显.免疫组织化学染色示:肿瘤细胞白细胞分化抗原34(cluster of differentiation 34,CD34)、结蛋白(desmin)呈弥漫阳性,平滑肌肌动蛋白(smooth muscle actin,SMA)、白细胞分化抗原56(cluster of differentiation 56,CD56)、成红细胞转化特异性相关基因(erythroblast transformation-specific related gene,ERG)部分阳性,细胞核相关抗原Ki-67增殖指数约为5%.荧光原位杂交(fluorescence in situ hybridization,FISH)检测示:视网膜母细胞瘤蛋白1(retinoblastoma protein 1,RB1)基因缺失阳性,核受体亚家族4成员3(nuclear receptor subfamily 4 group a member 3,NR4A3)基因和尤文肉瘤断裂区域1(Ewing sarcoma breakpoint region 1,EWSR1)基因阴性.手术切除后随访3~24个月,患者无肿瘤局部复发和远处转移.MFB伴黏液样变性的诊断及鉴别诊断主要依靠临床病理特征、免疫组织化学及基因检测,治疗以单纯手术切除为主,预后好,无明显的复发风险.
Myofibroblastoma(MFB)with myxoid degeneration is a rare benign mesenchymal tumor.A case of a 42-year-old female has been found a painless mass in the right inguinal region for 1 year.The mass was smooth on the surface,nodular,and gray-brown on the cross-section.Histologically,the tumor had a myxoid-rich background,with round or short spindle-shaped cells arranged in irregular bundles,eosinophilic cytoplasm,and some nuclei with prominent vacuoles.Immunohistochemistry showed that the tumor cells were diffusely positive for cluster of differentiation 34(CD34)and desmin,partially positive for smooth muscle actin(SMA),cluster of differentiation 56(CD56),and erythroblast transformation-specific related gene(ERG),with a proliferation index Ki-67 of about 5%.Fluorescence in situ hybridization(FISH)revealed a positive deletion of the retinoblastoma protein 1(RB1)gene and negative for nuclear receptor subfamily 4 group a member 3(NR4A3)and Ewing sarcoma breakpoint region 1(EWSR1)genes.Post-surgical follow-up for 3 to 24 months showed no local recurrence or distant metastasis.Diagnosis and differential diagnosis of MFB with myxoid degeneration depend on clinicopathological features,immunohistochemistry,and genetic testing.Simple surgical resection is the primary treatment,offering a good prognosis with no significant risk of recurrence.
彭姣;赵江映;严春禄;庞小君
绵阳市中医医院病理科,四川绵阳 621000
肌纤维母细胞瘤黏液变性结蛋白CD34视网膜母细胞瘤蛋白1
myofibroblastomamyxoid degenerationdesminCD34retinoblastoma protein 1
《临床与病理杂志》 2024 (005)
781-786 / 6
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