炎性肌纤维母细胞瘤临床病理及二代测序分析

摘要 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)结果以及诊治进展。方法 回顾性分析3例炎性肌纤维母细胞瘤的临床病理学特征、NGS结果以及治疗效果等，并复习相关文献。结果 3例患者中，女性2例，男性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。

Clinicopathologic and next-generation sequencing analysis of inflammatory myofibroblastic tumor

Abstract Objective:To explore the clinicopathological features, next-generation sequencing (NGS) and the progress of diagnosis and treatment of inflammatory myofibroblastic tumor (IMT). Methods: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 D5F3 and two cases were negative for ALK D5F3; 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. Conclusion: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.