Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review

Abstract

Objective To investigate the clinical characteristics of fumarate hydratase-deficient renal cell carcinoma (FH-RCC) in kidney transplant patients so as to improve the diagnosis and treatment of the disease clinically. Methods We retrospectively analyzed and summarized the clinical data of one kidney transplanted patient with FH-RCC who was treated in the urological department of our medical center in March 2022, including clinical characteristics, treatment and prognosis. A literature review was also performed to analyze and summarize its characteristics. Results A 52-year-old female patient who received a kidney transplant 20 years ago was diagnosed with right kidney cancer with multiple metastases. Cytoreductive nephrectomy was performed and pathological type was FH-RCC based on Revised Version of WHO 2022 Classification of Renal Tumors. She then received targeted therapy until discontinuation due to elevated serum creatinine and the disease progressed rapidly. Conclusion FH-RCC is characterized by rapid progress and poor prognosis. Its diagnosis relies on immunohistochemistry and genetic test. There are no currently standard-of-care treatment options for kidney transplant patients with renal cell carcinoma. Individualized treatment regimens should be suggested for these patients.

Keywords

• umarate hydratase-deficient renal cell carcinoma
• kidney transplant
• diagnosis
• treatment