Soya Kazuma, Fujimoto Takeru, Takahashi Daisuke, Kohashiguchi Kana, Takei Yusuke, Sugino Yoshio, Iwamura Hiroshi
Department of Urology National Hospital Organization Himeji Medical Center Himeji Hyogo Japan.
Department of Diagnostic Pathology National Hospital Organization Himeji Medical Center Himeji Hyogo Japan.
IJU Case Rep. 2025 Feb 20;8(3):218-222. doi: 10.1002/iju5.70009. eCollection 2025 May.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder. We report a case diagnosed with HLRCC following a subcapsular renal hematoma caused by a tumor.
A 28-year-old woman with a history of uterine myomas presented with left back pain. Computed tomography revealed a renal mass with a subcapsular hematoma, and coil embolization was performed. The tumor had enlarged rapidly, and F-fluorodeoxyglucose positron emission tomography/computed tomography revealed significant F-fluorodeoxyglucose uptake, suggesting malignancy. Subsequently, robot-assisted radical nephrectomy was performed. Histopathological examination confirmed papillary renal carcinoma (Stage pT2aN0M0). Fumarate hydratase immunostaining was negative, and a fumarate hydratase gene pathogenic germline variant confirmed the HLRCC diagnosis. No recurrence has been reported for 2 years since the surgery.
A combination of imaging tests using multiple modalities and close follow-ups contributed to establishing an accurate diagnosis and providing early definitive treatment.
遗传性平滑肌瘤病和肾细胞癌（HLRCC）是一种罕见的常染色体显性遗传病。我们报告一例因肿瘤导致肾包膜下血肿后被诊断为HLRCC的病例。
一名有子宫肌瘤病史的28岁女性出现左背痛。计算机断层扫描显示一个伴有包膜下血肿的肾肿块，并进行了线圈栓塞术。肿瘤迅速增大，F-氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示F-氟脱氧葡萄糖摄取显著，提示为恶性肿瘤。随后，进行了机器人辅助根治性肾切除术。组织病理学检查确诊为乳头状肾细胞癌（pT2aN0M0期）。富马酸水合酶免疫染色为阴性，富马酸水合酶基因致病性种系变异确诊了HLRCC诊断。自手术以来，2年未报告复发情况。
多种影像学检查方法的联合应用和密切随访有助于准确诊断并提供早期确定性治疗。
