摘要
目的 探讨肌纤维瘤/肌纤维瘤病的临床及病理组织学特征、诊断和鉴别诊断.方法回顾性分析2011年8月至2016年11月就诊于南京大学医学院附属鼓楼医院(7例)及会诊病例(2例)共9例肌纤维瘤/肌纤维瘤病患者的临床、病理资料及免疫表型特点,7例进行PDGFRB基因外显子第12、14号突变检测,4例应用荧光原位杂交(FISH)检测ETV6-NTRK3融合基因,同时复习相关文献.结果 患者男性7例,女性2例.发病年龄3 d至18岁,平均年龄5岁.发病部位:头面部8例,躯干部1例.临床表现多为局部境界清楚的肿块.组织学上,肿瘤可出现浅染区及深染区的双相结构.浅染区由具有嗜酸性胞质的胖梭形细胞构成,肿瘤细胞排列呈结节状、短束状或旋涡状.高倍镜下,细胞核呈细长的圆锥形或雪茄形,并缺乏核异型性.间质可发生程度不同的透明变性.深染区由原始的多边形或圆形的细胞核深染的细胞组成,细胞质淡染,细胞边缘较模糊,有时可见血管外皮瘤样结构,核分裂象可见.免疫组织化学显示:肿瘤浅染区细胞表达波形蛋白和平滑肌肌动蛋白(SMA)弥漫阳性;深染区原始间叶细胞表达波形蛋白弥漫阳性,SMA灶性区弱阳性;肿瘤表达结蛋白、S-100蛋白、h-Caldesmon、CD34、STAT6阴性.PDGFRB基因第12、14号外显子突变检测结果显示:2例伴有第12号外显子点突变c.1681C〉T(p.R561C),1例伴有第14号外显子点突变c.1998C〉G(p.N666K).4例3岁以下病例FISH检测ETV6-NTRK3融合基因显示阴性.9例均行外科单纯切除术,术后随访6~68个月,2例复发.结论 肌纤维瘤/肌纤维瘤病常发生于2岁以下的婴幼儿,形态学上肿瘤可出现浅染区及深染区的双相结构,分子遗传学可出现PDGFRB外显子突变,可作为疑难病例的辅助诊断指标.
Objective To investigate the clinical and histological features, diagnosis and differential diagnosis of myofibroma/myofibromatosis. Methods The clinical data and pathology features of nine cases of myofibroma/myofibromatosis were collected from August 2011 to November 2016 in Affiliated Drum Tower Hospital,Nanjing University Medical School and Children's Hospital of Nanjing Medical University. Immunohistochemistry(IHC),PDGFRB molecular analysis and ETV6-NTRK3 gene fusion were performed and relevant literature reviewed. Results There were 7 males and 2 females, with age ranging from 3 days to 18 years(mean 5 years). The tumors were located in head and neck(eight cases)and trunk (one case). Clinically, the tumors presented as freely movable nodules. Microscopically, they appeared biphasic with alternating light- and dark-staining areas. The light-staining area consisted mainly of plump myoid spindle cells with eosinophilic cytoplasm arranged in nodules, short fascicles, or whorls.The dark-staining area was composed of round or polygonal cells with slightly hyperchromatic nuclei or small spindle cells arranged around a distinct hemangiopericytoma-like vascular pattern. IHC showed the tumor cells in the light-staining area were strongly positive for vimentin and SMA, while cells in dark-staining area were strongly positive for vimentin,and weakly for SMA. Tumor cells were negative for desmin, S-100 protein, h-Caldesmon,CD34 and STAT6. Analysis of PDGFRB mutations was performed in seven cases. Two cases showed 12 exon point mutation c.1681 c〉T(p.R561C),one case showed 14 exon point mutation c.1998C〉G(p.N666K). ETV6-NTRK3 gene fusion was not detected by fluorescence in situ hybridization in four patients under three years old. All cases were followed for 6 to 68 months,with two recurrences.Conclusions Myofibroma/myofibromatosis is an uncommon benign myofibroblastic tumor of infancy and childhood. The tumor can appear biphasic,and may show PDGFRB point mutation which is of potential diagnostic value.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2018年第1期45-50,共6页
Chinese Journal of Pathology
关键词
肌纤维瘤
肌纤维瘤病
受体
血小板源生长因子β
原位杂交
荧光
Myofibroma
Myofibromatosis
Receptor, platelet-derived growth factor beta
Insitu hybridization, fluorescence