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Purpose <p>Fumarate 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.</p> Methods <p>A 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, [<sup>18</sup>F] fluorodeoxyglucose (FDG) -PET/CT), and histopathological results were reviewed.</p> Results <p>The 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 (<i>n</i> = 5), solid-predominant (<i>n</i> = 4), and purely solid (<i>n</i> = 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.</p> Conclusion <p>FH-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.</p>

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Imaging findings in fumarate hydratase-deficient renal cell carcinoma: a case series of 11 patients

  • 期刊论文

  • 发表日期：

    2025年11月26日

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  • Naoya Ebisu,
  • Yoshiko Ueno,
  • Takamichi Murakami,
  • Toshiki Hyodo,
  • Kaori Shiraishi,
  • Yasunori Nagayama,
  • Atsushi Higaki,
  • Tsutomu Tamada,
  • Mikiya Fujii,
  • Kenichi Fukui,
  • Tesuro Kaga,
  • Masayuki Matsuo,
  • Satoru Takahashi,
  • Masahiro Jinzaki

摘要

Purpose

Fumarate 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.

Methods

A 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, [18F] fluorodeoxyglucose (FDG) -PET/CT), and histopathological results were reviewed.

Results

The 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.

Conclusion

FH-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.