Low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma in a pediatric liver transplant recipient: a case report
Urology Case Reports, cilt.68, 2026 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 68
- Basım Tarihi: 2026
- Doi Numarası: 10.1016/j.eucr.2026.103558
- Dergi Adı: Urology Case Reports
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE, Directory of Open Access Journals
- Anahtar Kelimeler: Fumarate hydratase, Renal cell carcinoma, Pediatric, Nephron-sparing surgery, Liver transplantation, Immunosuppression, Variant of uncertain significance
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a rare molecularly defined neoplasm, reported only occasionally in children. We describe a 9-year-old liver transplant recipient with prior lymphoma, chronic immunosuppression, hypertension, and reduced renal reserve who presented with a complex cystic left upper-pole renal mass. Open partial nephrectomy was performed using local parenchymal compression without hilar clamping to avoid global ischemia. Histopathology confirmed low-grade oncocytic FH-deficient RCC (pT1a, R0), and renal function remained stable. Germline FH sequencing identified a variant of uncertain significance, warranting genetic counseling, variant reinterpretation, and long-term surveillance.