基因检测在2例肾肉瘤样癌患者治疗中的应用及文献复习

Sarcomatoid renal cell carcinoma:a case report of 2 cases with literature review and application of gene testing in clinical treatment

目的分析肾肉瘤样癌(SRCC)患者的临床表现,探讨基因检测在SRCC治疗中的作用。方法回顾性分析2例SRCC患者的临床资料,并根据病理组织的高通量测序基因检测结果指导临床用药,为患者提供个体化的诊疗方案。术后持续随访观察。结果2例SRCC患者均通过免疫组化明确病理诊断,术后随访发现病例1原位复发,病例2远处转移。基因检测提示原位复发对mTOR抑制剂依维莫司敏感;远处转移对PD1治疗敏感。原位复发患者予以依维莫司口服治疗,手术1年后仍在随访中;远处转移患者予以帕博利珠单抗治疗,半年后因多器官功能衰竭死亡。结论基因检测可以为SRCC患者提供合适的治疗方案。

Objective To analyze the clinical manifestations of sarcomatoid renal cell carcinoma(SRCC)and to explore the application of gene testing in its treatment.Methods The clinical data of 2 SRCC cases were retrospectively analyzed.High-throughput sequencing was performed on the pathological tissues so as to guide clinical medication and provide individualized diagnosis and treatment plan.Results The pathological diagnoses were confirmed with immunohistochemistry.Postoperative follow-up showed that case 1 had in situ recurrence and case 2 had distant metastasis.Gene testing indicated that case 1 was sensitive to the mTOR inhibitor everolimus,and case 2 was sensitive to PD1 therapy.Case 1 was treated with everolimus and was still in follow-up 1 year after surgery.Case 2 was treated with Pabolizumab and died of multiple organ failure half a year later.Conclusion Gene testing can provide appropriate treatment for patients with SRCC.