CASE REPORT article
Front. Oncol.
Sec. Genitourinary Oncology
This article is part of the Research TopicEmerging Concepts and Therapeutic Strategies for Targeting RTKs in Genitourinary CancersView all articles
Case Report: A Patient with Metastatic Fumarate Hydratase-deficient Renal Cell Carcinoma Associated with Leiomyomatosis: Real-World Clinical Insights on Systemic Therapy and Liver-Directed SBRT
Provisionally accepted
- 1Mahkota Medical Centre, Melaka, Malaysia
- 2Canterbury Health Laboratories, New Zealand, United Kingdom
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Fumarate hydratase-deficient renal cell carcinoma is a rare type of renal cell carcinoma often associated with hereditary leiomyomatosis and renal cell carcinoma syndrome. These tumors tend to exhibit aggressive behaviour and metastasise at an early stage. We describe the case of a 41-year-old Chinese ethnicity female who presented with progressive left flank pain and macroscopic haematuria. CT abdomen showed a large renal mass occupying the entire left kidney, left renal vein and inferior vena cava (IVC) tumor thrombus extension, left renal hilar lymphadenopathy, indeterminate iliac bony and multiple large uterine fibroids. The patient underwent radical nephrectomy, caval thrombectomy and IVC reconstruction, total abdominal hysterectomy, and bilateral salpingo-oophorectomies. Histopathological examination revealed metastatic fumarate hydratase-deficient renal cell carcinoma associated with uterine leiomyomatosis with R1 resection margin at IVC. Owing to the lack of uniformly-agreed guidelines for the management of this tumor, close surgical surveillance was advised. The patient subsequently developed postoperative liver metastases and sought self-funded medical care abroad. She subsequently received bevacizumab and erlotinib and achieved a favourable response. However, patient experienced renal impairment with proteinuria following treatment and the next cycle of systemic therapy was delayed. During this pause, we proceeded with stereotactic body radiation therapy (SBRT) to the remaining solitary liver metastasis. This case illustrates the practical challenges faced in treating fumarate hydratase-deficient renal cell carcinoma, including the lack of established systemic treatment guidelines and management of treatment-related adverse events. It highlights the value of integrating radiotherapy during interruptions in systemic therapy, importance of multidisciplinary collaboration in this rare tumor.
Keywords: Bevacizumab and Erlotinib, fumarate hydratase-deficient renal cell carcinoma, hereditary leiomyomatosis andrenal cell carcinoma, stereotactic bodyradiation therapy, Uterine leiomyomatosis
Received: 21 Oct 2025; Accepted: 27 Jan 2026.
Copyright: © 2026 Chong, Murray and Chong. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Huili James Chong
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