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

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。

Abstract

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 admitted 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 INI1, 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

Key words

adrenocortical carcinoma / rhabdoid features / varicocele

参考文献

[1] CLAY MR, PINTO EM, FISHBEIN L, et al. Pathological and genetic stratification for management of adrenocortical carcinoma[J]. J Clin Endocrinol Metab, 2022, 107(4): 1159-1169.

[2] LAM AK. Update on adrenal tumours in 2017 World Health Organization (WHO) of endocrine tumours[J]. Endocr Pathol, 2017, 28(3): 213-227.

[3] 李莉, 周晓军. INI1缺陷性肿瘤的临应床病变特征[J]. 中华病理学杂志, 2015, 44(5): 361-364.

[4] AYYANAR P, SABLE MN, ADHYA AK, et al. The rhabdoid variant of adrenocortical carcinoma-report of three cases and literature review[J]. Indian J Pathol Microbiol, 2023, 66(3): 627-631.

[5] WEISSFERDT A, PHAN A, SUSTER S, et al. Primary rhabdoid adrenocortical carcinoma: a clinicopathological and immunohistochemical study of three cases[J]. Histopathology, 2013, 62(5): 771-777.

[6] LOU E, GOODWIN J, HOWELL DN, et al. A G-CSF-secreting adrenal carcinoma with rhabdoid-like differentiation causing leukocytosis[J]. Nat Rev Urol, 2009, 6(7): 392-397.

[7] LOW G, SAHI K. Clinical and imaging overview of functional adrenal neoplasms[J]. Int J Urol, 2012, 19(8): 697-708.

[8] PHAN AT. Adrenal cortical carcinoma-review of current knowledge and treatment practices[J]. Hematol Oncol Clin North Am, 2007, 21(3): 489-507, Ⅷ～Ⅸ.

[9] 苏停停, 张娇娇, 袁佳, 等. 22例肾上腺皮质癌病理特征及临床价值[J]. 临床与病理杂志, 2021, 41(1): 33-38.

[10] DP, SADASIVAN B, PATIL OKALY GV, et al. Cytomorphological and immunohistochemical features of renal and extrarenal rhabdoid tumors[J]. Diagn Cytopathol, 2021, 49(6): 711-717.

[11] CHENG H, YANG S, CAI S, et al. Clinical and prognostic characteristics of 53 cases of extracranial malignant rhabdoid tumor in children. A single-institute experience from 2007 to 2017[J]. Oncologist, 2019, 24(7): e551-e558.

[12] D'AMICO F, BERTACCO A, CESARI M, et al. Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature[J]. J Med Case Rep, 2018, 12(1): 39.

[13] HOLSTEN T, BENS S, OYEN F, et al. Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis[J]. Eur J Hum Genet, 2018, 26(8): 1083-1093.

[14] DEY B, SRINIVAS BH, BADHE B, et al. Malignant epithelioid soft tissue tumours-a pathologist's perspective with review of literature[J]. Cureus, 2020, 12(12): e12263.

[15] 侯思竹, 张爽, 姜崇浩, 等. 嗜酸细胞性肾上腺皮质癌的病理特征[J]. 诊断病理学杂志, 2021, 28(12): 1072-1073, 1080.

[16] AGARAM N. Evolving classification of rhabdomyosarcoma[J]. Histopathology, 2022, 80(1): 98-108.