摘要
目的探讨孤立性纤维性肿瘤(SFT)的临床病理学特征、分子遗传学特征及预后。方法对南京医科大学第一附属医院病理学部2010年1月至2020年12月诊断的115例颅外SFT进行回顾性研究,进行组织学观察、免疫组化检测、分子遗传学检测及随访。结果其中,男性45例,女性70例,年龄19~82岁,中位年龄54岁,发生部位最常见于肺/胸膜,肿瘤最大径为1~25 cm,中位数6 cm,组织学形态多数表现为经典型SFT,由梭形或卵圆形肿瘤细胞及背景胶原和“鹿角形”血管构成;此外,还有2例脂肪瘤型、8例黏液型、2例巨细胞型、4例去分化型。免疫组化显示为特征性的STAT6、CD34弥漫阳性,少数病例表现出Desmin、CK-pan、PAX2、PAX8等抗体的反常表达。分子遗传学上经NGS检测的病例均具有NAB2::STAT6融合基因。12例伴有TERT启动子,4例出现TP53基因突变。术后随访时间为0~136个月(中位随访时间45个月),有10例复发,5例转移,4例出现肿瘤相关性死亡。结论依据典型的组织学形态和特异的免疫组化表型可以对SFT进行诊断,但对于特殊形态或特殊免疫表型的SFT诊断需注意诊断陷阱。SFT有一定的肿瘤复发和转移发生率,单纯的形态学评估较难预测其预后,使用风险分层模型能较好地预测SFT的生物学行为。
Objective To explore the clinicopathological features,molecular genetic features and prognosis of solitary fibrous tumor(SFT).Methods A total of 115 cases diagnosed as extracranial solitary fibrous tumor were collected from the Department of Pathology of the First Affiliated Hospital of Nanjing Medical University from 2010 to 2020.Histological evaluation,immunohistochemical detection,genetic testing,and follow-up interviews were carried out in the retrospective study.Results There were 45 males and 70 females,ranging from 19 to 82 years old(a median age of 54 years).Intrapleural is the most common site of SFT.The diameter of the tumor ranged from 1 to 25 cm(a median diameter of 6 cm).Histologically,most of the cases are classic SFT,with spindle to oval tumor cells,background collagen and“staghorn”blood vessels.In addition,there were 2 cases of fat-forming SFT,8 cases of myxoid SFT,2 cases of giant cell SFT and 4 cases of dedifferentiation SFT.Immunohistochemically,the characteristic marker of SFT,STAT6,CD34,were diffusely and strongly expressed in most cases,and a few cases showed abnormal expression of antibodies such as Desmin,CK-pan,PAX2 and PAX8.Molecularly,all cases with NGS test all had the NAB2::STAT6 fusion gene.Furthermore,12 cases were accompanied with mutations in the TERT promoter and 4 cases were accompanied with mutations in the TP53 gene.Clinical follow-up was obtained in 95 cases and the intervals range from 0 to 136 months(average 45 months).10 patients relapsed,5 metastasized,and 4 died of tumor.Conclusions SFT can be diagnosed according to the typical morphology and specific immunophenotype,but the diagnosis trap should be paid attention to for those with special morphology or unusual immunophenotype.Although the recurrence and metastasis rate of SFT is low,it is important to distinguish these cases.However,it is difficult to predict prognosis only by morphological evaluation,instead using risk stratification model might help.
作者
姚晨晨
杨旭西
李霄
陈刚
范钦和
贡其星
YAO Chenchen;YANG Xuxi;LI Xiao;CHEN Gang;FAN Qinhe;GONG Qixing(Department of Pathology,The First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)
出处
《中国肿瘤外科杂志》
CAS
2023年第5期448-454,共7页
Chinese Journal of Surgical Oncology
基金
江苏省卫生发展研究中心开放项目(JSHD2022040)。
