Renal medullary carcinoma: clinical, pathologic, immunohistochemical, and genetic analysis with pathogenetic implications

摘要: Abstract Objectives To investigate the pathologic, clinical, and genetic features of renal medullary carcinomas (RMCs) in search clues to their pathogenesis. Methods We analyzed 40 RMCs for clinical features, immunohistochemical expression using a panel markers, changes comparative genomic hybridization. Results Patients presented at 5 32 years age, 82% were African American. All patients tested had sickle cell trait or disease. Seven with suspected abscess urinary track infection without clinically recognizable mass. Of 15 tumors able be analyzed, all positive epithelial markers CAM 5.2 membrane antigen. negative high-molecular-weight cytokeratin 34βE12. Cytokeratins 7 20 carcinoembryonic antigen heterogeneous variable. Ulex was focally minority cases. Eight 12 showed significant positivity TP53 protein (greater than 25% nuclear positivity). tumor (n = 8) strongly vascular endothelial growth factor hypoxia inducible factor. nine gains losses hybridization, eight no one loss chromosome 22. Survival ranged from 2 weeks months (mean 4 months). Conclusions These findings suggest that RMC is pathologically distinct collecting duct carcinoma. The hypothesis chronic secondary hemoglobinopathy may involved pathogenesis suggested by strong TP53.