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Presented by Dr. Pedram Argani and prepared by Dr. Katherine Fomchenko
This is a middle-aged female with a renal tumor.
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1. Question
This is a middle-aged female with a renal tumor.
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Answer: B. Xp11 translocation carcinoma
Histologic Description: This is a clear cell neoplasm with a solid/nested architecture. The stroma is somewhat hyalinized, and there are associated psammoma bodies. In many areas, there are prominent subnuclear vacuoles. The neoplasm is essentially non-immunoreactive for carbonic anhydrase 9 (CA-IX) and cytokeratin 7, but demonstrates strong nuclear immunoreactivity for TFE3. This supports the diagnosis of Xp11 translocation renal cell carcinoma.
Differential Diagnosis: Many areas of the neoplasm overlaps with clear cell carcinoma. One difference is that the stroma of clear cell RCC is typically more cellular and hypervascular than the hyalinized stroma of an Xp11 translocation RCC. The absence of CA-IX labeling and strong TFE3 labeling excludes clear cell RCC. TCEB1 mutated renal cell carcinomas also have extensive clear cells, and can overlap in areas with clear cell RCC. However, TCEB1-mutated RCCs typically have prominent smooth muscle stroma and branching arborizing papillary architecture. Clear cell papillary renal cell carcinoma atypically demonstrates subnuclear vacuoles, and may have a prominent tubular architecture. However, clear cell papillary RCC labels for both cytokeratin 7 and carbonic anhydrase 9, but not for TFE3.
This case illustrated the ability of Xp11 translocation RCC to demonstrate subnuclear vacuoles that mimic those of clear cell papillary RCC.Incorrect
Answer: B. Xp11 translocation carcinoma
Histologic Description: This is a clear cell neoplasm with a solid/nested architecture. The stroma is somewhat hyalinized, and there are associated psammoma bodies. In many areas, there are prominent subnuclear vacuoles. The neoplasm is essentially non-immunoreactive for carbonic anhydrase 9 (CA-IX) and cytokeratin 7, but demonstrates strong nuclear immunoreactivity for TFE3. This supports the diagnosis of Xp11 translocation renal cell carcinoma.
Differential Diagnosis: Many areas of the neoplasm overlaps with clear cell carcinoma. One difference is that the stroma of clear cell RCC is typically more cellular and hypervascular than the hyalinized stroma of an Xp11 translocation RCC. The absence of CA-IX labeling and strong TFE3 labeling excludes clear cell RCC. TCEB1 mutated renal cell carcinomas also have extensive clear cells, and can overlap in areas with clear cell RCC. However, TCEB1-mutated RCCs typically have prominent smooth muscle stroma and branching arborizing papillary architecture. Clear cell papillary renal cell carcinoma atypically demonstrates subnuclear vacuoles, and may have a prominent tubular architecture. However, clear cell papillary RCC labels for both cytokeratin 7 and carbonic anhydrase 9, but not for TFE3.
This case illustrated the ability of Xp11 translocation RCC to demonstrate subnuclear vacuoles that mimic those of clear cell papillary RCC.
