炎性肌纤维母细胞瘤临床病理及二代测序结果分析

Clinicopathologic and next-generation sequencing analysis of inflammatory myofibroblastic tumor

目的探讨炎性肌纤维母细胞瘤(IMT)的临床病理学特点、二代测序(NGS)结果及诊治进展。方法收集2020年6月至10月南京鼓楼医院诊治的3例IMT患者的临床资料,回顾性分析其临床病理学特征、NGS结果及治疗效果等,并结合相关文献进行分析。结果3例IMT患者中女2例,男1例;原发于子宫1例,小肠2例。3例患者均因腹痛起病,肿瘤眼观均为灰白色组织,镜下肿瘤主要由增生的纤维母细胞样细胞构成,肿瘤浸润淋巴细胞(TILs)比例分别为<5%、5%~10%、20%。免疫表型:1例ALK D5F3阳性,2例ALK D5F3阴性;2例PD-L1阳性,1例PD-L1阴性。二代测序结果显示,3例患者肿瘤突变负荷(TMB)均较低,1例患者存在新型TNC-ALK、ALK-DTNB基因重排。除1例患者死亡外,余2例患者均接受综合治疗,一般情况良好。结论IMT具有炎性特征,虽然TMB较低,但其间质内常伴淋巴细胞浸润,PD-L1阳性率较高,免疫治疗可能颇具潜力。

Objective To explore the clinicopathological features,next-generation sequencing(NGS)and the progress of diagnosis and treatment of inflammatory myofibroblastic tumor(IMT).Methods Three patients with IMT in the Drum Tower Hospital of Nanjing from June 2020 to October 2020 were selected.The clinicopathological features,NGS results and therapeutic effect of three IMT cases were retrospectively analyzed,and relevant literatures were reviewed.Results Among the three patients,there were two females and one male.All the three patients were found to have abdominal pain.The tumors are gray-white tissues.Microscopically,they are mainly composed of proliferative fibroblastoid cells.The proportion of tumor infiltrating lymphocytes(TILs)were<5%,5%-10%,and 20%,respectively.Immunohistochemical staining showed that one case was positive for ALK D5 F3 and two cases were negative for ALK D5 F3;two cases were positive for PD-L1 and one case was negative for PD-L1.NGS results showed that the tumor mutation burden(TMB)was low in three patients,and one patient had new TNC-ALK and ALK-DTNB gene rearrangements.One patient died,and the rest two patients received comprehensive treatment and were generally in good condition.Conclusions IMT has inflammatory characteristics.Although the TMB of IMT is low,the interstitium is often accompanied by lymphocyte infiltration with high positive rate of PD-L1.Immunotherapy may have great potential.