钙化性纤维性肿瘤32例临床病理学分析

Calcifying fibrous tumor: a clinicopathological analysis of 32 cases

目的探讨钙化性纤维性肿瘤(CFT)的临床病理学特征、免疫表型及鉴别诊断。方法收集河南省人民医院病理科(22例)及解放军陆军特色医学中心病理科(10例)2009年6月至2019年2月期间诊治的32例CFT患者的临床及病理学资料。采用免疫组织化学染色检测波形蛋白、CD34、间变性淋巴瘤激酶(ALK)、CD117、S-100蛋白等的表达情况;采用逆转录聚合酶链反应(RT-PCR)方法行C-KIT、PDGFRA检测;荧光原位杂交(FISH)法检测是否有ALK基因重排或MDM2基因扩增。结果患者年龄范围15~63岁,平均40.8岁,男性12例,女性20例,11例发生于胃,4例发生于腹膜后,4例位于卵巢,阴囊、纵隔、头颈部各2例,胸腔、肺、肾上腺、肾脏、乙状结肠、附睾和输卵管系膜各1例。大体均表现为界限清楚的实性肿块,肿瘤最大径0.6~10.0 cm。镜下特点均为玻璃样变的胶原纤维组织内伴有钙化或沙砾体形成,纤维母细胞稀疏,间质内散在或成片淋巴细胞、浆细胞浸润。免疫组织化学示梭形细胞恒定表达波形蛋白,9.4%(3/32)病例表达CD34,而calponin、平滑肌肌动蛋白、结蛋白、S-100蛋白、SOX10、STAT6、β-catenin、ALK、CD117、DOG1、广谱细胞角蛋白、上皮细胞膜抗原均呈阴性。全部病例行FISH检测ALK均无重排,11例发生于胃、4例发生于腹膜后及1例发生于乙状结肠的病例行C-KIT、PDGFRA分子检测均未见突变,4例腹膜后病例FISH检测MDM2均无扩增。结论CFT是一种少见的良性纤维母细胞性肿瘤,其诊断主要依靠组织形态及免疫表型。不同部位CFT应注意与其他良恶性梭形细胞间叶性肿瘤相鉴别。

Objective To investigate the clinicopathological characteristics,histogenesis,immunophenotypes,molecular genetic characteristics,diagnosis and differential diagnosis of calcifying fibrous tumors(CFT).Methods A total of 32 cases of CFT(22 cases from Henan Provincial People′s Hospital and 10 cases from PLA Army Medical Center)diagnosed between June 2009 and February 2019 were reviewed.The clinical and pathologic data were analyzed.Results There were 12 male and 20 female patients,aged from 15 to 63 years(mean 40.8 years).Eleven cases occurred in stomach,four cases in retroperitoneum,four cases in ovary,two cases in scrotum,two cases in mediastinum,two cases in head and neck,one case each in thoracic cavity,lung,adrenal gland,kidney,sigmoid colon,epididymis and mesosalpinx.All the tumors were solid masses with clear boundaries.The maximal dimension of the tumors ranged from 0.6 to 10.0 cm.Microscopically,there was hypocellular stromal sclerosis and wavy storiform coarse collagen with superimposed scattered or patchy lymphocytes and plasma cells;calcification or gravel formation were also detected.Immunohistochemistry showed that spindle cells were positive for vimentin and some were positive for CD34;and they were negative for calponin,SMA,desmin,S-100 protein,SOX10,STAT6,β-catenin,ALK,CD117,DOG1,CKpan,and EMA.No ALK rearrangement was detected by FISH in all cases.No C-KIT and PDGFRA mutation was detected in all the tested 11 cases of stomach,four cases of retroperitoneal and one case of sigmoid colon CFT.MDM2 was not amplified by FISH in all four tested cases of retroperitoneal CFT.Conclusions CFT is a rare benign tumor of fibroblastic cell origin.The diagnosis mainly depends on histomorphologic analysis and immunophenotyping.CFT should be differentiated from other benign and malignant spindle cell mesenchymal tumors.