劉家翔¹、林子平^{1, 3}、林登龍^{1, 3}

台北榮民總醫院泌尿部¹國立陽明大學醫學系泌尿學科²書田泌尿科學研究中心³

Chia-Hsiang Liu¹, Tzu-Ping Lin^1,3, Alex T. L. Lin^1,3

¹ Department of Urology; ²Department of Radiology,
Taipei Veterans General Hospital, Taiwan

³ Department of Urology, School of Medicine, and Shu-Tien Urological Institute,
National Yang-Ming University, Taipei, Taiwan

Papillary renal cell carcinomas (pRCCs) are a diverse family of tumors with mysteries awaiting to be unraveled. PRCCs account for up to 15% of renal cell carcinomas and share a common origin with the more frequent clear-cell subtype, arising from the proximal nephron . PRCCs can be divided into two established histological subtypes, type 1 pRCCs, which bear recurrent oncogenic MET alterations, and type 2 pRCCs, which represent a wide range of diseases including hereditary cancer syndromes such as germline mutations of Fumarate hydratase (FH). Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare and aggressive tumor affecting mostly younger patients. We shared a case of older patient with Fumarate hydratase-deficient renal cell carcinoma and inferior vena cava invasion.

This 92-year-old man with arrhythmia, hypertension and aortic stenosis was found renal function deterioration during OPD follow-up for benign prostatic hyperplasia. Besides, persistent stinging sensation of left flank area without knocking tenderness was noted. Urine routine only showed microscopic hematuira. Abdominal ultrasonography revealed a 5.8cm echogenic lesion at the right suprarenal region. MRI disclosed left infiltrating renal tumor with left renal vein, left adrenal vein and infrahepatic inferior vena cava invasion. Ultrasound-guided biopsy pathology showed Fumarate hydratase-deficient renal cell carcinoma. He received left radical nephrectomy with inferior vena cava thrombectomy. Pathology report revealed Fumarate hydratase-deficient renal cell carcinoma, pT3c without lymphadenopathy.

Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare tumor. We believed that this case was the first case in older patient of Fumarate hydratase-deficient renal cell carcinoma and inferior vena cava invasion who received radical nephrectomy with inferior vena cava thrombectomy. However, prognosis needed time to prove and follow-up.