具髓质表型的未分类肾细胞癌2例报告并文献复习

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Renal cell carcinoma unclassified with medullary phenotype： a report of 2 cases and literature review

QIAN Yijun1，LIU Xiaohua2，CAO Manming3，DU Wei1，GUO Kai1，XU Yawen1

（1.Department of Urology，Zhujiang Hospital，Southern Medical University，Guangzhou 510280;2.Shayuan Street Community Health Service Center，Haizhu District，Guangzhou 510280;3.Department of Oncology，Zhujiang Hospital，Southern Medical University，Guangzhou 510280，China）

ABSTRACT：Objective To investigate the clinical features and treatment of renal cell carcinoma unclassified with medullary phenotype （RCCU-MP），so as to improve the clinical understanding of this disease.Methods The clinical data of 2 patients with pathological diagnosis of renal medullary carcinoma （RMC） in Zhujiang Hospital during 2019 and 2023 were retrospectively analyzed，and relevant literature was reviewed.Results Both patients had symptoms of backache，and imaging examination indicated renal space-occupying lesions.Case 1 was diagnosed as RMC by renal biopsy，and case 2 was pathologically diagnosed as RMC after surgery.Both cases lacked evidence of sickle cell trait or sickle cell disease，and were finally diagnosed as RCCU-MP.Case 1 did not receive antineoplastic therapy and died 5 months after diagnosis.Case 2 underwent laparoscopic nephrectomy，and then received gemcitabine + paclitaxel chemotherapy + immunotherapy.The patient’s tumor progressed gradually after first-line treatment was abandoned due to concurrent hematologic infection，and he eventually died 7 months after surgery.Conclusion The clinical features of RCCU-MP are partially similar to those of RMC.The diagnosis of RCCU-MP requires pathological examinations and should exclude sickle cell trait or sickle cell disease.Due to the aggressive nature of the tumor，the prognosis of patients is poor.

KEY WORDS：renal medullary carcinoma；sickle cell trait；SMARCB1；unclassified renal cancer；chemotherapy

摘要：目的 探讨具髓质表型的未分类肾细胞癌的临床特征与诊治方案，提高临床对该类型肾癌的认识。（剩余9197字）