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Xp11.2 translocation renal cell carcinoma
 
The Xp11.2 translocation renal cell carcinoma affects mainly children or
young adults and has a poor clinical outcome with a mean survival time
of less than 2 years.
Its detection most often occurs at an advanced stage of the disease due
to its silent progression.
Xp11.2 translocation renal cell carcinoma
 
The Xp11.2 translocation renal cell carcinoma affects mainly children or
young adults and has a poor clinical outcome with a mean survival time
of less than 2 years.
Its detection most often occurs at an advanced stage of the disease due
to its silent progression.

Clinical case:
• 40 year-old woman
• Dysuria, anemia, proteinuria
• US: tumor mass - 12 cm diameter, located in the lower 2/3 of the left
kidney with a benign appearance
• Nephrectomy specimen: tumor with a yellowish color, necrotic areas,
cystic degeneration and hemorrhage, with extension in the renal hilum.
The veins in the renal sinus showed thrombosis.
Microscopically
• Complex architecture with many
growth patterns (papilary, tubular,
alveolar) and cell pleomorphism.
• It infiltrates the fibroadipose tissue of
the renal hilum. The renal veins
within the sinus showed tumor
emboli.
 
Microscopically
• Complex architecture with many
growth patterns (papilary, tubular,
alveolar) and cell pleomorphism.
• It infiltrates the fibroadipose tissue of
the renal hilum. The renal veins
within the sinus showed tumor
emboli.
Immunohistochemical staining
• Cathepsin K was positive in the tumor
cells.  
Microscopically
• Complex architecture with many
growth patterns (papilary, tubular,
alveolar) and cell pleomorphism.
• It infiltrates the fibroadipose tissue of
the renal hilum. The renal veins
within the sinus showed tumor
emboli.
Immunohistochemical staining
• Cathepsin K was positive in the tumor
cells.  
The fluorescence in situ
hybridization (FISH) test
• TFE3 rearrangement in 76.7% of the
nuclei – result of a Xp11.2
translocation.
Thank you!

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