Masuda Hiroshi, Sato Tomonori, Sato Satoko, Goto Takuro, Katayama Hiromichi, Satake Yohei, Sato Takuma, Kawasaki Yoshihide, Kawamorita Naoki, Shirota Hidekazu, Ito Akihiro
Urol Int. 2025 Jul 12:1-9. doi: 10.1159/000547393.
Introduction Fumarate hydratase-deficient renal cell carcinoma is a rare and aggressive subtype associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, characterized by germline mutations in the fumarate hydratase (FH) gene. Here, we report a case of HLRCC with early recurrence during adjuvant therapy following radical nephrectomy. Case presentation A 34-year-old woman with FH-deficient RCC presented with fever, right flank pain, and a large renal mass with a tumor thrombus. Open radical nephrectomy and IVC tumor thrombectomy were performed. Pathological findings and genetic analyses confirmed the diagnosis of HLRCC. Despite adjuvant pembrolizumab therapy after nephrectomy, bone metastases were detected within nine weeks. The patient was treated with stereotactic body radiotherapy (SBRT), followed by systemic therapy with nivolumab and cabozantinib. After 16 months since the recurrence, no further disease progression was observed. Genetic counseling revealed the same FH mutation in her daughter, prompting annual surveillance. Conclusion This case highlights the potential efficacy of combining tyrosine kinase inhibitor therapy with SBRT in managing aggressively progressive HLRCC.
引言 富马酸水合酶缺陷型肾细胞癌是一种罕见且侵袭性强的亚型，与遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征相关，其特征为富马酸水合酶（FH）基因的种系突变。在此，我们报告一例在根治性肾切除术后辅助治疗期间早期复发的HLRCC病例。病例介绍 一名患有FH缺陷型肾细胞癌的34岁女性，出现发热、右侧胁腹疼痛以及伴有肿瘤血栓的巨大肾肿块。实施了开放性根治性肾切除术及下腔静脉肿瘤血栓切除术。病理检查结果和基因分析确诊为HLRCC。尽管肾切除术后接受了辅助派姆单抗治疗，但在9周内仍检测到骨转移。该患者接受了立体定向体部放疗（SBRT），随后接受纳武单抗和卡博替尼的全身治疗。复发16个月后，未观察到疾病进一步进展。遗传咨询显示其女儿存在相同的FH突变，因此对其进行年度监测。结论 本病例突出了酪氨酸激酶抑制剂治疗联合SBRT在治疗侵袭性进展性HLRCC中的潜在疗效。
