AI Article Synopsis
- - A 33-year-old Asian woman diagnosed with a rare and aggressive form of renal cancer known as FH-deficient renal cell carcinoma (RCC) presented with hematuria and underwent imaging that showed a solid tumor and lymph node metastases.
- - Urinary cytology and subsequent tests indicated high-grade urothelial carcinoma, while a right nephrectomy revealed specific tumor characteristics and a lack of fumarate hydratase (FH) expression.
- - Genetic analysis confirmed a mutation in the FH gene, underscoring the necessity of combining cytological, histological, and genetic findings to accurately diagnose FH-deficient RCC.
Article Abstract
Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a rare, aggressive, hereditary subtype of renal cancer that requires careful diagnostic considerations. We report a case of a 33-year-old Asian woman who presented with a 20-day history of hematuria. Imaging studies revealed a solid tumor in the lower pole of the right kidney with lymph node metastases. Urinary cytology revealed benign squamous cells, inflammatory cells, and atypical epithelial cells, suggestive of high-grade urothelial carcinoma. Following a right nephrectomy, the tumor displayed papillary structures composed of cells exhibiting atypical, elongated nuclei with eosinophilic nucleoli and peripheral halos. Immunohistochemical staining demonstrated negative FH expression. Genetic analysis identified a somatic missense mutation in the FH gene, confirming the diagnosis of FH-deficient RCC. This case highlights the importance of integrating cytological, histological, and genetic analyses for accurate diagnosis of FH-deficient RCC.
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