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已发表论文
一例复发性多发子宫肌瘤伴遗传性平滑肌瘤病和肾细胞癌（HLRCC）病例：对富马酸水合酶（FH）缺乏的见解
Received 22 July 2025
Accepted for publication 4 November 2025
Published 19 November 2025 Volume 2025:17 Pages 4615—4620
DOI https://doi.org/10.2147/IJWH.S553544
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Matteo Frigerio
Wan Li, Shu Bao, Jie Duan
Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, Province, People’s Republic of China
Correspondence: Jie Duan, Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei Province, People’s Republic of China, Email 100980402@qq.com
Abstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic disorder caused by mutations in fumarate hydratase (FH) gene. The main manifestations include cutaneous leiomyoma, uterine leiomyoma, and type 2 papillary renal cell carcinoma (PRCC2). This case report is about a 37-year-old patient with multiple uterine leiomyomas. The patient had recurred within a short period after both previous myomectomies. A renal tumor was accidentally detected during a routine examination before the third myomectomy and was confirmed to be advanced RCC associated with HLRCC. The patient was treated with immunization and targeted therapy (Sunitinib and Tislelizumab injection) and subsequently received a robotic radical nephrectomy. Patients with similar conditions might initially present gynecology for uterine fibroids, easily ignored due to their rarity, missing the time window for diagnosing and treating RCC. This case underscores the need for early genetic screening in patients with recurrent uterine leiomyomas suggestive of FH deficiency.
Keywords: hereditary leiomyomatosis and renal cell carcinoma, HLRCC, fumarate hydratase, FH deficiency, renal cell carcinoma, RCC
Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, Province, People’s Republic of China
Correspondence: Jie Duan, Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei Province, People’s Republic of China, Email 100980402@qq.com
Abstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic disorder caused by mutations in fumarate hydratase (FH) gene. The main manifestations include cutaneous leiomyoma, uterine leiomyoma, and type 2 papillary renal cell carcinoma (PRCC2). This case report is about a 37-year-old patient with multiple uterine leiomyomas. The patient had recurred within a short period after both previous myomectomies. A renal tumor was accidentally detected during a routine examination before the third myomectomy and was confirmed to be advanced RCC associated with HLRCC. The patient was treated with immunization and targeted therapy (Sunitinib and Tislelizumab injection) and subsequently received a robotic radical nephrectomy. Patients with similar conditions might initially present gynecology for uterine fibroids, easily ignored due to their rarity, missing the time window for diagnosing and treating RCC. This case underscores the need for early genetic screening in patients with recurrent uterine leiomyomas suggestive of FH deficiency.
Keywords: hereditary leiomyomatosis and renal cell carcinoma, HLRCC, fumarate hydratase, FH deficiency, renal cell carcinoma, RCC