子宫肌瘤家族聚集倾向相关研究

发布时间：2019-04-09 21:02

【摘要】：研究背景子宫肌瘤是女性生殖系统最常见的良性肿瘤,是子宫切除术的最主要的手术指证,严重影响女性的身体健康及生活质量,但是其发病原因以及其临床表现异质性的原因均不明确。最近的研究发现,遗传因素在子宫肌瘤的发病中起重要的作用。本研究从遗传学角度出发,探究子宫肌瘤家族聚集倾向与子宫肌瘤疾病表现以及相关基因突变的关系。研究方法收集2012年北京协和医院妇产科进行的子宫肌瘤手术病例,以家族史为分组标准,分为家族组和散发组,统计两个研究组的患者在发病年龄、临床表现及肌瘤复发方面的差异。并选取有明显子宫肌瘤家族史的家系一例,以其基因DNA组为模板,对目标基因延胡索酸水合酶(Fumarate Hydrase, FH)进行扩增并测序,筛查是否存在变。研究结果本次研究共纳入523例子宫肌瘤病案,失访36例,失访率6.9%。与散发组相比,家族组患者的平均发病年龄明显低于散发组(31.6±5.62岁vs37.09±8.04岁；p0.01),其接受手术的年龄也明显低于散发组(34.9±6.39岁vs41.1±8.39岁；p0.01)。而家族组出现压迫症状(36%vs19.2%；p=0.043)、慢性盆腔疼痛(8%vs1.1%；p=0.045)和痛经(36%vs17.9;p=0.025)的发生率明显高于散发组。其他临床症状与复发情况方面,无明显的统计学显著性差异。对有明显子宫肌瘤家族史的家系成员的FH基因进行测序后,未发现基因编码区的杂合变异。研究结论有子宫肌瘤家族史的患者在发病年龄和手术年龄上均较散发组年轻,且相关临床症状的发生率更高。家系的目标基因测序未发现遗传性平滑肌瘤病及肾细胞癌(Hereditary Leiomyomatosis and Renal Cell Cancer, HLRCC)致病基因的突变,故该家系的子宫肌瘤为非综合征性子宫肌瘤,且非综合征性子宫肌瘤与传性平滑肌瘤病及肾细胞癌症候群的致病基因.不同
[Abstract]:Background uterine leiomyoma is the most common benign tumor of the female reproductive system, is the most important surgical indication of hysterectomy, which seriously affects women's physical health and quality of life. However, the cause of its pathogenesis and the heterogeneity of its clinical manifestations are not clear. Recent studies have found that genetic factors play an important role in the pathogenesis of uterine leiomyoma. From the point of view of genetics, this study explored the relationship between the family aggregation tendency of uterine leiomyoma and the disease manifestation of uterine leiomyoma as well as related gene mutation. Methods the cases of hysteromyoma operated in gynecology and obstetrics department of Peking Union Hospital in 2012 were collected. According to family history, they were divided into two groups: family group and sporadic group. Differences in clinical manifestations and recurrence of myoma. A family with obvious family history of uterine leiomyoma was selected to amplify and sequence the target gene fumarate hydratase (Fumarate Hydrase, FH) using its gene DNA group as template to screen for any changes. Results A total of 523 cases of uterine leiomyoma were included in this study, 36 of them lost follow-up, and the rate of missing follow-up was 6.9%. Compared with the sporadic group, the mean age of onset in the family group was significantly lower than that in the sporadic group (31.6 卤5.62 years vs37.09 卤8.04 years; p0.01), and the age of operation was significantly lower than that in the sporadic group (34.9 卤6.39 years old vs41.1 卤8.39 years). (P 0.01). The incidence of compression (36% vs 19.2%), chronic pelvic pain (8% vs 1.1%) and dysmenorrhea (36% vs 17.9) was significantly higher in the family group than in the sporadic group (36% vs 19.2% vs 0.043), while chronic pelvic pain (8% vs 1.1%) and dysmenorrhea (36% vs 17.9%) were significantly higher in the familial group than in the sporadic group. There was no significant difference between other clinical symptoms and recurrence. No heterozygous variation in the coding region was found after sequencing the FH gene of the family members with obvious family history of uterine leiomyoma. Conclusion patients with family history of uterine leiomyoma are younger in onset age and operation age than those in sporadic group, and the incidence of related clinical symptoms is higher. No mutations were found in the (Hereditary Leiomyomatosis and Renal Cell Cancer, HLRCC) gene of hereditary leiomyomatosis and renal cell carcinoma in the family. Therefore, the myoma of the family is non-symptomatic uterine leiomyoma. And non-syndromic uterine leiomyoma and transmission leiomyomatosis and renal cell cancer syndromes of pathogenic genes. Different
【学位授予单位】：北京协和医学院
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R737.33

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