Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review
Renal cell carcinoma (RCC) associated with XP11.2 translocation is an exceedingly rare subtype of RCC. A 27-year-old female presented with a 6.7cm mass and underwent a robotic-assisted left radical nephrectomy with uneventful recovery. Pathology revealed clear cell carcinoma with papillary and gland...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-07-01
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| Series: | Urology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214442025001287 |
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| author | Bader Alsaikhan Saud AlHussayen Ebtesam Almajed Abdullah Alghuraibi Khaled Almodeth Noura Al Oudah Abdulrahman K. Alabdulsalam |
| author_facet | Bader Alsaikhan Saud AlHussayen Ebtesam Almajed Abdullah Alghuraibi Khaled Almodeth Noura Al Oudah Abdulrahman K. Alabdulsalam |
| author_sort | Bader Alsaikhan |
| collection | DOAJ |
| description | Renal cell carcinoma (RCC) associated with XP11.2 translocation is an exceedingly rare subtype of RCC. A 27-year-old female presented with a 6.7cm mass and underwent a robotic-assisted left radical nephrectomy with uneventful recovery. Pathology revealed clear cell carcinoma with papillary and glandular features, positive for Melan-A, consistent with MIT family translocation renal cell carcinoma. The infrequent occurrence and its nonspecific clinical and radiological presentation results in a considerable diagnostic challenge. Given the potentially more aggressive behavior of Xp11.2 translocation RCC, particularly in adults, a thorough understanding of the tumor's genetic profile is critical for optimizing patient management and improving outcomes. |
| format | Article |
| id | doaj-art-b7209f234d474c14ac7db992030cb2a9 |
| institution | DOAJ |
| issn | 2214-4420 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Urology Case Reports |
| spelling | doaj-art-b7209f234d474c14ac7db992030cb2a92025-08-20T02:48:07ZengElsevierUrology Case Reports2214-44202025-07-016110305710.1016/j.eucr.2025.103057Renal cell carcinoma associated with XP11.2 translocation: A case report and literature reviewBader Alsaikhan0Saud AlHussayen1Ebtesam Almajed2Abdullah Alghuraibi3Khaled Almodeth4Noura Al Oudah5Abdulrahman K. Alabdulsalam6College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Surgery, Division of Urology, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia; Corresponding author. King Saud bin Abdulaziz University for Health Sciences King Abdullah International Medical Research Centre, National Guard Health Affairs (MNGHA), Riyadh, Saudi ArabiaCollege of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaDepartment of Clinical Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi ArabiaCollege of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaCollege of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi ArabiaConsultant Pathologist and Nephropathologist, Department of Pathology and Laboratory Medicine, Ministry of National Guard - Health Affairs, Riyadh, Saudi ArabiaAnatomic and Renal Pathologist, Department of Pathology and Laboratory Medicine, Ministry of National Guard - Health Affairs, Riyadh, Saudi ArabiaRenal cell carcinoma (RCC) associated with XP11.2 translocation is an exceedingly rare subtype of RCC. A 27-year-old female presented with a 6.7cm mass and underwent a robotic-assisted left radical nephrectomy with uneventful recovery. Pathology revealed clear cell carcinoma with papillary and glandular features, positive for Melan-A, consistent with MIT family translocation renal cell carcinoma. The infrequent occurrence and its nonspecific clinical and radiological presentation results in a considerable diagnostic challenge. Given the potentially more aggressive behavior of Xp11.2 translocation RCC, particularly in adults, a thorough understanding of the tumor's genetic profile is critical for optimizing patient management and improving outcomes.http://www.sciencedirect.com/science/article/pii/S2214442025001287Xp11.2 translocationRenal cell carcinomaTranscription factor E3 gene fusionCase report |
| spellingShingle | Bader Alsaikhan Saud AlHussayen Ebtesam Almajed Abdullah Alghuraibi Khaled Almodeth Noura Al Oudah Abdulrahman K. Alabdulsalam Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review Urology Case Reports Xp11.2 translocation Renal cell carcinoma Transcription factor E3 gene fusion Case report |
| title | Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review |
| title_full | Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review |
| title_fullStr | Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review |
| title_full_unstemmed | Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review |
| title_short | Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review |
| title_sort | renal cell carcinoma associated with xp11 2 translocation a case report and literature review |
| topic | Xp11.2 translocation Renal cell carcinoma Transcription factor E3 gene fusion Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2214442025001287 |
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