{"title":"高铁蛋白血症提示肾癌伴TFE3基因易位1例","authors":"Ezékéel Judicaël Bocovo , Yannick Jean Rodrigue Pingdwendé Traoré , Quentin Caspar , Cristina Daniliuc , Christelle Ahomadégbé , Romulus Takin , François Nollez","doi":"10.1016/j.eucr.2025.103216","DOIUrl":null,"url":null,"abstract":"<div><div>We present the case of a 39-year-old man who was hospitalized due to hyperferritinemia. During the etiological workup, an abdominal-pelvic MRI incidentally revealed a left renal cystic mass classified as Bosniak III. A partial left nephrectomy was performed. Histologically, we observed malignant tumor proliferation with a polymorphic architecture. Immunohistochemistry revealed that the tumor cells weakly expressed keratins (AE1/AE3), but not carbonic anhydrase IX. Due to these unusual findings and the patient's young age, fluorescence in situ hybridization (FISH) was performed, revealing a rearrangement of the TFE3 gene in over 80 % of the tumor cells.</div></div>","PeriodicalId":38188,"journal":{"name":"Urology Case Reports","volume":"63 ","pages":"Article 103216"},"PeriodicalIF":0.4000,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hyperferritinemia revealing renal carcinoma with TFE3 gene translocation: a rare case report\",\"authors\":\"Ezékéel Judicaël Bocovo , Yannick Jean Rodrigue Pingdwendé Traoré , Quentin Caspar , Cristina Daniliuc , Christelle Ahomadégbé , Romulus Takin , François Nollez\",\"doi\":\"10.1016/j.eucr.2025.103216\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>We present the case of a 39-year-old man who was hospitalized due to hyperferritinemia. During the etiological workup, an abdominal-pelvic MRI incidentally revealed a left renal cystic mass classified as Bosniak III. A partial left nephrectomy was performed. Histologically, we observed malignant tumor proliferation with a polymorphic architecture. Immunohistochemistry revealed that the tumor cells weakly expressed keratins (AE1/AE3), but not carbonic anhydrase IX. Due to these unusual findings and the patient's young age, fluorescence in situ hybridization (FISH) was performed, revealing a rearrangement of the TFE3 gene in over 80 % of the tumor cells.</div></div>\",\"PeriodicalId\":38188,\"journal\":{\"name\":\"Urology Case Reports\",\"volume\":\"63 \",\"pages\":\"Article 103216\"},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2025-09-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Urology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214442025002876\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Urology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214442025002876","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
Hyperferritinemia revealing renal carcinoma with TFE3 gene translocation: a rare case report
We present the case of a 39-year-old man who was hospitalized due to hyperferritinemia. During the etiological workup, an abdominal-pelvic MRI incidentally revealed a left renal cystic mass classified as Bosniak III. A partial left nephrectomy was performed. Histologically, we observed malignant tumor proliferation with a polymorphic architecture. Immunohistochemistry revealed that the tumor cells weakly expressed keratins (AE1/AE3), but not carbonic anhydrase IX. Due to these unusual findings and the patient's young age, fluorescence in situ hybridization (FISH) was performed, revealing a rearrangement of the TFE3 gene in over 80 % of the tumor cells.
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