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Fumarate Hydratase-Deficient Renal Cell Carcinoma with Nucleolar Pattern of GATA3 Immunoexpression: Report of 2 Cases
Sidhartha Chaudhry1, Oleksandr Kravtsov1
1Department of Pathology, SUNY Upstate Medical University, Syracuse, NY, USA.
Abstract:
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare aggressive type of renal cell carcinoma. The significant morphologic overlap with other types of renal neoplasia and the limited availability of FH and 2-succinylcholine immunostains for diagnostic use outside large referral centers have created numerous diagnostic pitfalls. As FH-deficient RCC can be associated with hereditary leiomyomatosis and renal cell cancer syndrome, the importance of an accurate diagnosis goes beyond the prognosis and treatment of an individual patient. We present 2 patients with FH-deficient RCC showing a peculiar pattern of GATA3 immunoexpression restricted to tumor nucleoli. If confirmed in further larger studies, this could provide an additional diagnostic clue for considering the FH-deficient RCC diagnosis, and given the frequent papillary morphology and possible hilar location can lead to the misdiagnosis as high-grade urothelial carcinoma, and is an important diagnostic pitfall to be aware of.
Insights
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare cancer. A unique GATA3 staining pattern in tumor nucleoli may aid in its diagnosis, distinguishing it from other kidney cancers.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare and aggressive subtype of kidney cancer.
- Diagnostic challenges arise due to morphologic overlap with other renal neoplasms and limited availability of specific immunostains.
- Accurate diagnosis is crucial as FH-deficient RCC is linked to hereditary leiomyomatosis and renal cell cancer syndrome.
Purpose of the Study:
- To investigate a peculiar GATA3 immunoexpression pattern in FH-deficient RCC.
- To identify potential diagnostic clues for FH-deficient RCC, particularly in cases with papillary features or hilar location.
Main Methods:
- Case study of two patients diagnosed with FH-deficient RCC.
- Analysis of GATA3 immunoexpression patterns within tumor cells.
Main Results:
- Both patients exhibited a distinctive GATA3 immunoexpression pattern confined to tumor cell nucleoli.
- This finding suggests a potential role for GATA3 nucleolar staining as a diagnostic marker.
Conclusions:
- A peculiar nucleolar GATA3 immunoexpression pattern may serve as an additional diagnostic clue for FH-deficient RCC.
- Awareness of this pattern is important to avoid misdiagnosis, especially with high-grade urothelial carcinoma, given the frequent papillary morphology and potential hilar location.
