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Bilateral Xp11.2 translocation renal cell carcinoma: a case report
Takashi Karashima1, Takahira Kuno2, Naoto Kuroda3
1Department of Urology, Kochi University, Kochi Medical School, Kohasu, Oko, Nankoku, Kochi, 783-8505, Japan. karasima@kochi-u.ac.jp.
This case study reports a rare instance of bilateral Xp11.2 translocation renal cell carcinoma (RCC) occurring sequentially. Advanced diagnostic techniques confirmed this rare kidney cancer diagnosis in both kidneys.
Area of Science:
- Nephrology
- Oncology
- Genetics
Background:
- Xp11.2 translocation renal cell carcinoma (RCC) is an uncommon kidney neoplasm.
- Bilateral occurrences are exceptionally rare, necessitating detailed case reporting and literature review.
Observation:
- A 56-year-old woman with a history of left radical nephrectomy for clear cell RCC presented with a right renal tumor.
- The right renal tumor was diagnosed as Xp11.2 translocation RCC, distinct from the prior clear cell diagnosis.
Findings:
- Immunohistochemical analysis revealed strong transcription factor E3 (TFE3) expression in the right tumor cells.
- Fluorescence in situ hybridization and real-time PCR confirmed TFE3 gene rearrangements and fusion in both the left and right renal tumors, indicating metachronous Xp11.2 translocation RCC.
Implications:
- This case highlights the importance of comprehensive diagnostic evaluation for metachronous renal tumors.
- Combining immunohistochemistry, cytogenetics, and molecular analysis is crucial for diagnosing rare entities like Xp11.2 translocation RCC.
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