具有横纹肌样特征的肾上腺皮质癌1例报告并文献复习  

Adrenocortical carcinoma with rhabdoid features:a case report and literature review

作　　者：楚明川 孙慧敏 王浩 宋鉴[4] 郭永顺[3] CHU Mingchuan;SUN Huimin;WANG Hao;SONG Jian;GUO Yongshun(School of Clinical Medicine,Shandong Second Medical University,Weifang 261000;Precision Pathological Diagnosis Center,Weifang People's Hospital,Weifang 261000,China;Department of Urology,Weifang People's Hospital,Weifang 261000,China;Infection Management Office,Weifang People's Hospital,Weifang 261000,China)

机构地区：[1]山东第二医科大学临床医学院,山东潍坊261000 [2]潍坊市人民医院精准病理诊断中心,山东潍坊261000 [3]潍坊市人民医院泌尿外科,山东潍坊261000 [4]潍坊市人民医院感染管理办公室,山东潍坊261000

出　　处：《现代泌尿外科杂志》2025年第1期64-68,共5页Journal of Modern Urology

摘　　要：目的分析并总结具有横纹肌样特征的肾上腺皮质癌的临床病理特点、诊断治疗方法和预后情况。方法报道潍坊市人民医院泌尿外科收治的1例罕见的具有横纹肌样特征的肾上腺皮质癌患者的诊治经过,并结合文献分析该病的临床表现、病理特点、诊断及预后情况。结果34岁男性,因“左侧阴囊胀痛半年”就诊。影像学检查示腹膜后左侧肾上腺区巨大软组织肿瘤,左肾受压移位,导致左侧精索静脉回流受阻,引起精索静脉曲张。血清肾素、血管紧张素、醛固酮、皮质醇、儿茶酚胺等检查均未见异常。行左侧肾上腺肿瘤切除手术,术后病理显示横纹肌样细胞肿瘤,免疫组化示INI1、Syn、Calretinin、Vimentin阳性,基因检测未见SMARCB1、SMARCA4突变缺失,诊断为具有横纹肌样特征的肾上腺皮质癌。目前已随访20个月未发现复发或转移。查阅文献发现该疾病仅有7例报道。结论具有横纹肌样特征的肾上腺皮质癌罕见,确诊需要依靠病理学检查。手术完整切除肿瘤是治疗该病的主要手段,术后需长期随访,辅助治疗效果有待进一步观察。Objective To investigate and summarize the clinicopathological features,diagnosis,treatment and prognosis of adrenocortical carcinoma with rhabdoid features.Methods The clinical diagnosis and treatment of a case of adrenocortical carcinoma with rhabdoid features admitled to Department of Urology,Weifang People's Hospital were reported.The clinical manifestations,pathological features,diagnosis and prognosis of the disease were analyzed in combination with relevant literature.Results A 34-year-old male patient was admitted due to scrotal distension and pain that had persisted for 6 months.Imaging examination showed a huge soft tissue tumor in the left adrenal region of the retroperitoneum with compression displacement of the left kidney,leading to obstruction of venous return in the left spermatic vein,which in turn caused varicose veins.The levels of serum renin,angiotensin,aldosterone,cortisol,and catecholamine were within normal ranges.Surgical resection of the tumor was performed,and postoperative pathological examination revealed that the tumor tissue was predominantly composed of rhabdoid cells,exhibiting positive immunohistochemical staining for INI 1,Syn,Calretinin and Vimentin.Genetic testing did not identify any deletion of SMARCB1 and SMARCA4 mutations.Therefore,the diagnosis was adrenocortical carcinoma with rhabdoid features.At the current 20-month follow-up,no recurrence or metastasis was observed.A review of the literature found that only 7 cases of this disease had been reported.Conclusion Adrenocortical carcinoma with rhabdoid features is a rare disease,and a definitive diagnosis is dependent upon pathological examination.Surgical resection remains the primary treatment.Long-term follow-up is essential,and further research is needed to evaluate the impact of adjuvant therapy.

关 键 词：肾上腺皮质癌 横纹肌样特征 精索静脉曲张 

分 类 号：R736.6[医药卫生—肿瘤]