ArticleAbdominal radiology (New York)2026
Imaging findings in fumarate hydratase-deficient renal cell carcinoma: a case series of 11 patients.
Article in Abdominal radiology (New York), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeFumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a rare and aggressive RCC subtype defined in the 2022 WHO classification. This study aimed to describe its imaging and clinicopathological features.
methodsA retrospective analysis was conducted on 11 patients (12 tumors) diagnosed with FH-deficient RCC between 2015 and 2024 across multiple institutions. Clinical data, imaging findings (CT, MRI, [
resultsThe median age at diagnosis was 54 years (range: 35-81), with a male predominance (64%). At presentation, distant metastases were observed in 27% of patients. Based on contrast-enhanced CT findings, tumors were morphologically classified into three types: cystic-predominant (n = 5), solid-predominant (n = 4), and purely solid (n = 3). The dynamic enhancement pattern of the solid components showed progressive enhancement in 54.5% and mild corticomedullary enhancement with delayed washout in 45.5%, suggesting vascular heterogeneity. MRI showed high signal intensity of cystic components on both T1WI and T2WI, suggestive of hemorrhage. Solid components exhibited restricted diffusion on DWI in all cases, with a median ADC value of 0.88 (range: 0.77-1.18) × 10⁻³ mm²/s. On FDG-PET/CT, solid components demonstrated elevated FDG uptake (median SUVmax: 7.25; range: 6.81-10.10). Among nine cases with available follow-up data, three (33%) developed recurrence within two years after surgery.
conclusionFH-deficient RCC has a high risk of metastasis and recurrence, requiring strict follow-up. Although definitive diagnosis relies on immunohistochemistry, imaging features-such as mixed cystic-solid morphology, hemorrhagic cysts, and, compared with clear cell RCC, lower enhancement, restricted diffusion, and higher FDG uptake-may serve as important diagnostic clues that facilitate accurate pathological diagnosis and management.
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