延胡索酸水合酶缺陷型子宫平滑肌瘤1例
A Case of Uterine Leiomyoma with Deficiency of Fumarate Hydratase
摘要: 延胡索酸水合酶(fumarate hydratase, FH)缺陷型子宫平滑肌瘤是一种较为罕见的子宫肌瘤亚型，其发病机制为FH基因突变导致的代谢异常。经研究发现，FH缺陷型子宫平滑肌瘤可能导致遗传性平滑肌瘤病及肾细胞癌(hereditary leiomyomatosis and renal cell carcinoma, HLRCC)综合征，从而增加患者及家属的肾癌发生率。本病例从临床特征、发病机制、治疗及预后等进行多方面探讨，论证其患者及家属进行基因监测的必要性。
Abstract: Fumarate hydratase (FH)-deficient uterine leiomyoma is a rare subtype of uterine fibroid that is metabolically abnormal due to mutations in the FH gene. FH deficient uterine leiomyomatosis and renal cell carcinoma (HLRCC) syndrome has been found to lead to hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, thereby increasing the incidence of kidney cancer in patients and their families. In this case, the clinical characteristics, pathogenesis, treatment and prognosis were discussed, and the necessity of genetic monitoring was demonstrated for patients and their families.
文章引用：毛心茹, 王长河. 延胡索酸水合酶缺陷型子宫平滑肌瘤1例[J]. 临床个性化医学, 2026, 5(1): 26-29. https://doi.org/10.12677/jcpm.2026.51004

参考文献

[1] 子宫肌瘤的诊治中国专家共识专家组. 子宫肌瘤的诊治中国专家共识[J]. 中华妇产科杂志, 2017, 52(12): 793-800.
[2] Siegler, L., Erber, R., Burghaus, S., Brodkorb, T., Wachter, D., Wilkinson, N., et al. (2018) Fumarate Hydratase (FH) Deficiency in Uterine Leiomyomas: Recognition by Histological Features versus Blind Immunoscreening. Virchows Archiv, 472, 789-796. [Google Scholar] [CrossRef] [PubMed]
[3] 杨华, 冯凤芝, 范融, 等. 延胡索酸水化酶缺陷相关子宫肌瘤临床特点分析[J]. 中国实用妇科与产科杂志, 2022, 38(3): 319-322.
[4] Reyes, C., Karamurzin, Y., Frizzell, N., Garg, K., Nonaka, D., Chen, Y., et al. (2014) Uterine Smooth Muscle Tumors with Features Suggesting Fumarate Hydratase Aberration: Detailed Morphologic Analysis and Correlation with S-(2-Succino)-Cysteine Immunohistochemistry. Modern Pathology, 27, 1020-1027. [Google Scholar] [CrossRef] [PubMed]
[5] Liu, C., Dillon, J., Beavis, A.L., Liu, Y., Lombardo, K., Fader, A.N., et al. (2020) Prevalence of Somatic and Germline Mutations of Fumarate hydratase in Uterine Leiomyomas from Young Patients. Histopathology, 76, 354-365. [Google Scholar] [CrossRef] [PubMed]
[6] Ooi, A. (2020) Advances in Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Research. Seminars in Cancer Biology, 61, 158-166. [Google Scholar] [CrossRef] [PubMed]
[7] Chayed, Z., Kristensen, L.K., Ousager, L.B., Rønlund, K. and Bygum, A. (2021) Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Case Series and Literature Review. Orphanet Journal of Rare Diseases, 16, Article No. 34. [Google Scholar] [CrossRef] [PubMed]
[8] Garg, K. and Rabban, J. (2020) Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Associated Uterine Smooth Muscle Tumors: Bridging Morphology and Clinical Screening. Genes, Chromosomes and Cancer, 60, 210-216. [Google Scholar] [CrossRef] [PubMed]
[9] 何妍谊, 谢翠云, 韩焕梅, 韩慧芳, 贝桂珍, 黎月飞, 等. 经腹子宫肌瘤切除术和腹腔镜子宫肌瘤切除术术后复发率的比较[J]. 现代肿瘤医学, 2021, 29(12): 2117-2119.
[10] Ahvenainen, T., Kaukomaa, J., Kämpjärvi, K., Uimari, O., Ahtikoski, A., Mäkinen, N., et al. (2021) Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-Deficient Uterine Leiomyomas. American Journal of Surgical Pathology, 46, 537-546. [Google Scholar] [CrossRef] [PubMed]
[11] 高鹏英, 李琳琳, 马东慎, 等. 延胡索酸水合酶缺陷型子宫平滑肌瘤40例临床病理分析[J]. 临床与实验病理学杂志, 2023, 39(1): 18-22.
[12] 刘婷婷, 万晨昕, 夏萌, 赵小晓, 卢娇兰, 张英杰, 等. 延胡索酸水合酶缺陷型子宫平滑肌瘤1例报道[J]. 重庆医学, 2024, 53(16): 2554-2557.