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

Alsaikhan, Bader
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King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia
Minist Natl Guard Hlth Affairs, Dept Surg, Div Urol, Riyadh, Saudi Arabia
King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

AlHussayen, Saud
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King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

Almajed, Ebtesam
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Princess Nourah Bint Abdulrahman Univ, Coll Med, Dept Clin Sci, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

Alghuraibi, Abdullah
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King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

Almodeth, Khaled
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Imam Mohammad Ibn Saud Islamic Univ, Coll Med, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

Al Oudah, Noura
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Minist Natl Guard Hlth Affairs, Dept Pathol & Lab Med, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

Alabdulsalam, Abdulrahman K.
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Minist Natl Guard Hlth Affairs, Dept Pathol & Lab Med, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia
机构:
[1] King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia
[2] Minist Natl Guard Hlth Affairs, Dept Surg, Div Urol, Riyadh, Saudi Arabia
[3] King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia
[4] Princess Nourah Bint Abdulrahman Univ, Coll Med, Dept Clin Sci, Riyadh, Saudi Arabia
[5] Imam Mohammad Ibn Saud Islamic Univ, Coll Med, Riyadh, Saudi Arabia
[6] Minist Natl Guard Hlth Affairs, Dept Pathol & Lab Med, Riyadh, Saudi Arabia
关键词:
Xp11.2;
translocation;
Renal cell carcinoma;
Transcription factor E3 gene fusion;
Case report;
FEATURES;
SERIES;
D O I:
10.1016/j.eucr.2025.103057
中图分类号:
R5 [内科学];
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号:
1002 ;
100201 ;
摘要:
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.
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