Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review.

Bader Alsaikhan, Saud AlHussayen, Ebtesam Almajed, Abdullah Alghuraibi, Khaled Almodeth, Noura Al Oudah, Abdulrahman K Alabdulsalam

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Article in Urology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Bader AlsaikhanCollege of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Saud AlHussayenCollege of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Ebtesam AlmajedDepartment of Clinical Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

Abdullah AlghuraibiCollege of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Khaled AlmodethCollege of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.

Noura Al OudahConsultant Pathologist and Nephropathologist, Department of Pathology and Laboratory Medicine, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.

Abdulrahman K AlabdulsalamAnatomic and Renal Pathologist, Department of Pathology and Laboratory Medicine, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Case reportRenal cell carcinomaTranscription factor E3 gene fusionXp11.2 translocation

Identifiers

PMID40453380

DOI10.1016/j.eucr.2025.103057

PMCPMC12124643

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