Clinical Insights and Therapeutic Strategies for Fumarate Hydratase-Deficient Renal Cell Carcinoma: A Case Report with Literature Review.

BACKGROUND

Fumarate Hydratase-deficient Renal Cell Carcinoma (FH-d RCC) is a rare autosomal dominant malignancy caused by germline mutations in the fumarate hydratase gene. This aggressive renal cell carcinoma subtype predominantly affects young patients, exhibiting features of type II papillary renal cell carcinoma with early metastatic potential.

CASE PRESENTATION: We present a case of a 38-year-old male diagnosed with FH-d RCC accompanied by retroperitoneal lymph node and vertebral bone metastases. Initial contrast-enhanced computed tomography revealed a 2-cm solid-cystic lesion in the upper pole of the left kidney, retroperitoneal lymphadenopathy, and multiple osteolytic vertebral lesions. The tumor was staged as T1aN1M1. The patient then underwent laparoscopic partial left nephrectomy, para-aortic lymph node dissection, and vertebroplasty. Postoperatively, the patient received cabozantinib, tislelizumab, and denosumab. At the 36-month follow-up, the patient remains progression-free, with the bone metastases having resolved.

CONCLUSION

This case demonstrates the atypical clinical and imaging features, as well as the feasibility of a multidisciplinary comprehensive treatment approach for FH-d RCC, providing valuable insights for the diagnosis and management of this rare subtype of renal cancer.