ArticleAME case reports2025
Fumarate hydratase-deficient renal cell carcinoma with sarcomatoid features: a case report.
Article in AME case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare and highly aggressive form of renal cell carcinoma (RCC), with only a few hundred cases reported worldwide. Sarcomatoid renal cell carcinoma (SRCC) is a distinctive histologic variant of RCC, accounting for approximately 1.0-1.5% of renal parenchymal tumors. To date, no standardized treatment guidelines have been established for RCC characterized by the concurrent presence of FH deficiency and sarcomatoid features. Case Description: We report a case of sarcomatoid RCC with multiple bone metastases, presenting clinically with persistent lower back pain. Genetic testing revealed a germline mutation in the FH gene. After 6 months of combined treatment with immune checkpoint inhibitors (ICIs) and tyrosine kinase inhibitors (TKIs), the activity of the bone metastatic lesions was substantially suppressed, and the primary renal tumor was managed with cryoablation and renal artery embolization. No local or systemic recurrence has been observed, and the patient has maintained a progression-free survival (PFS) for nearly 1 year. Conclusions: RCC with both FH gene loss and sarcomatoid differentiation is an exceedingly rare entity. Genetic testing and immunohistochemistry are critical for accurate diagnosis. Immunotherapy and targeted therapies may serve as potential translational treatment strategies, offering an opportunity for effective management of the primary tumor in conjunction with radiotherapy.
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