{"title":"富马酸氢化酶缺陷型子宫肌瘤伴 FH 基因双突变位点:罕见病例报告和文献综述。","authors":"Gang Wei, Jie Chen, Xing Gong, Dongdong Zhang","doi":"10.2147/IJWH.S444069","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Fumarate Hydratase (FH)-deficient uterine leiomyomas are a rare type of uterine fibroid associated with somatic or germline mutations in the FH gene. Herein, we report a case of FH-deficient uterine leiomyoma with a double-site mutation of <i>FH</i> in a 41-year-old woman.</p><p><strong>Case presentation: </strong>The woman was found to have an intrauterine mass during a routine physical examination two years prior. She had no previous medical history or family history of genetic diseases. Ultrasound examination revealed a slightly hypoechoic mass on the posterior wall of the uterus, approximately 4 cm × 4.1 cm in size, suggesting the possibility of a uterine fibroid. The patient opted for regular annual follow-ups and received no specific treatment. However, during the subsequent two years of follow-up, the mass was found to increase in size annually. The patient then came to our hospital and underwent laparoscopic myomectomy. Postoperative pathology indicated that the tumor was negative for FH but positive for 2-succinocysteine (2SC), suggesting a potential diagnosis of FH-deficient leiomyoma. Sanger sequencing analysis demonstrated that the leiomyoma harbored the c.724C>T (p.L242F) mutation in exon 5 and the c.1292C>T (p.T431I) mutation in exon 9 of the FH gene, further confirming the diagnosis of FH-deficient leiomyoma.</p><p><strong>Conclusion: </strong>We report a rare case of FH-deficient uterine leiomyoma with double mutation sites in the FH gene. Pathological examination and genetic testing are crucial for a definitive diagnosis.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2137-2141"},"PeriodicalIF":2.5000,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11640030/pdf/","citationCount":"0","resultStr":"{\"title\":\"Fumarate Hydratase-Deficient Leiomyoma with Double Mutation Sites in the FH <i>Gene</i>: A Rare Case Report and Literature Review.\",\"authors\":\"Gang Wei, Jie Chen, Xing Gong, Dongdong Zhang\",\"doi\":\"10.2147/IJWH.S444069\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Fumarate Hydratase (FH)-deficient uterine leiomyomas are a rare type of uterine fibroid associated with somatic or germline mutations in the FH gene. Herein, we report a case of FH-deficient uterine leiomyoma with a double-site mutation of <i>FH</i> in a 41-year-old woman.</p><p><strong>Case presentation: </strong>The woman was found to have an intrauterine mass during a routine physical examination two years prior. She had no previous medical history or family history of genetic diseases. Ultrasound examination revealed a slightly hypoechoic mass on the posterior wall of the uterus, approximately 4 cm × 4.1 cm in size, suggesting the possibility of a uterine fibroid. The patient opted for regular annual follow-ups and received no specific treatment. However, during the subsequent two years of follow-up, the mass was found to increase in size annually. The patient then came to our hospital and underwent laparoscopic myomectomy. Postoperative pathology indicated that the tumor was negative for FH but positive for 2-succinocysteine (2SC), suggesting a potential diagnosis of FH-deficient leiomyoma. Sanger sequencing analysis demonstrated that the leiomyoma harbored the c.724C>T (p.L242F) mutation in exon 5 and the c.1292C>T (p.T431I) mutation in exon 9 of the FH gene, further confirming the diagnosis of FH-deficient leiomyoma.</p><p><strong>Conclusion: </strong>We report a rare case of FH-deficient uterine leiomyoma with double mutation sites in the FH gene. Pathological examination and genetic testing are crucial for a definitive diagnosis.</p>\",\"PeriodicalId\":14356,\"journal\":{\"name\":\"International Journal of Women's Health\",\"volume\":\"16 \",\"pages\":\"2137-2141\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2024-12-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11640030/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Women's Health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2147/IJWH.S444069\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Women's Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/IJWH.S444069","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Fumarate Hydratase-Deficient Leiomyoma with Double Mutation Sites in the FH Gene: A Rare Case Report and Literature Review.
Background: Fumarate Hydratase (FH)-deficient uterine leiomyomas are a rare type of uterine fibroid associated with somatic or germline mutations in the FH gene. Herein, we report a case of FH-deficient uterine leiomyoma with a double-site mutation of FH in a 41-year-old woman.
Case presentation: The woman was found to have an intrauterine mass during a routine physical examination two years prior. She had no previous medical history or family history of genetic diseases. Ultrasound examination revealed a slightly hypoechoic mass on the posterior wall of the uterus, approximately 4 cm × 4.1 cm in size, suggesting the possibility of a uterine fibroid. The patient opted for regular annual follow-ups and received no specific treatment. However, during the subsequent two years of follow-up, the mass was found to increase in size annually. The patient then came to our hospital and underwent laparoscopic myomectomy. Postoperative pathology indicated that the tumor was negative for FH but positive for 2-succinocysteine (2SC), suggesting a potential diagnosis of FH-deficient leiomyoma. Sanger sequencing analysis demonstrated that the leiomyoma harbored the c.724C>T (p.L242F) mutation in exon 5 and the c.1292C>T (p.T431I) mutation in exon 9 of the FH gene, further confirming the diagnosis of FH-deficient leiomyoma.
Conclusion: We report a rare case of FH-deficient uterine leiomyoma with double mutation sites in the FH gene. Pathological examination and genetic testing are crucial for a definitive diagnosis.
期刊介绍:
International Journal of Women''s Health is an international, peer-reviewed, open access, online journal. Publishing original research, reports, editorials, reviews and commentaries on all aspects of women''s healthcare including gynecology, obstetrics, and breast cancer. Subject areas include: Chronic conditions including cancers of various organs specific and not specific to women Migraine, headaches, arthritis, osteoporosis Endocrine and autoimmune syndromes - asthma, multiple sclerosis, lupus, diabetes Sexual and reproductive health including fertility patterns and emerging technologies to address infertility Infectious disease with chronic sequelae including HIV/AIDS, HPV, PID, and other STDs Psychological and psychosocial conditions - depression across the life span, substance abuse, domestic violence Health maintenance among aging females - factors affecting the quality of life including physical, social and mental issues Avenues for health promotion and disease prevention across the life span Male vs female incidence comparisons for conditions that affect both genders.