Course of Multimodal Therapy and Genetic Profile of HLRCC with Early Recurrence During Adjuvant Therapy After Radical Nephrectomy.

IF 1.5 4区 医学 Q3 UROLOGY & NEPHROLOGY
Hiroshi Masuda, Tomonori Sato, Satoko Sato, Takuro Goto, Hiromichi Katayama, Yohei Satake, Takuma Sato, Yoshihide Kawasaki, Naoki Kawamorita, Hidekazu Shirota, Akihiro Ito
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引用次数: 0

Abstract

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.

根治性肾切除术后辅助治疗中早期复发的HLRCC的多模式治疗过程和遗传谱。
富马酸水合酶缺陷型肾细胞癌是一种罕见的侵袭性亚型,与遗传性平滑肌瘤病和肾细胞癌(HLRCC)综合征相关,其特征是富马酸水合酶(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。病例介绍:一名34岁女性,患有fh缺乏的肾细胞癌,表现为发烧,右侧疼痛,肾脏大肿块伴肿瘤血栓。行开放性根治性肾切除术及下腔静脉肿瘤取栓术。病理结果和遗传分析证实了HLRCC的诊断。尽管在肾切除术后进行了辅助派姆单抗治疗,但在9周内发现了骨转移。患者接受立体定向放射治疗(SBRT),随后接受纳武单抗和卡博赞替尼的全身治疗。复发16个月后,未见疾病进一步进展。遗传咨询显示,她的女儿也有同样的FH突变,促使她每年进行监测。结论本病例强调了酪氨酸激酶抑制剂联合SBRT治疗侵袭性进展性HLRCC的潜在疗效。
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来源期刊
Urologia Internationalis
Urologia Internationalis 医学-泌尿学与肾脏学
CiteScore
3.30
自引率
6.20%
发文量
94
审稿时长
3-8 weeks
期刊介绍: Concise but fully substantiated international reports of clinically oriented research into science and current management of urogenital disorders form the nucleus of original as well as basic research papers. These are supplemented by up-to-date reviews by international experts on the state-of-the-art of key topics of clinical urological practice. Essential topics receiving regular coverage include the introduction of new techniques and instrumentation as well as the evaluation of new functional tests and diagnostic methods. Special attention is given to advances in surgical techniques and clinical oncology. The regular publication of selected case reports represents the great variation in urological disease and illustrates treatment solutions in singular cases.
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