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CASE REPORT
Year : 2023  |  Volume : 10  |  Issue : 1  |  Page : 28-30

Fumarate hydratase-deficient renal cell carcinoma: A case report and literature review

Yi-Hsuan Huang1, Nan-Haw Chow2, Yu-Ting Yu2, Wen-Pin Su3
1 Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
2 Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
3 Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan

Correspondence Address:
Prof. Wen-Pin Su
Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan
Taiwan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ejcrp.eJCRP-D-22-00023

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Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare but aggressive subtype of renal cancer associated with germline or somatic mutations of the FH gene. The histology demonstrates a broad range of morphologic patterns with loss of FH immunostaining. There is no standard therapy approved for FH-deficient RCC, and treatment is often extrapolated from other subtypes of RCC. With a better understanding of the molecular mechanism and pathogenesis, more studies including this population are ongoing. We reported a 33-year-old man with no relevant family history diagnosed with locally advanced FH-deficient RCC and who later developed distant metastasis. He received erlotinib-bevacizumab combination therapy and achieved a partial response. We also performed a literature review of FH-deficient RCC.


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