子宮肌瘤家族聚集傾向相關(guān)研究
發(fā)布時間：2019-04-09 21:02
【摘要】：研究背景 子宮肌瘤是女性生殖系統(tǒng)最常見的良性腫瘤,是子宮切除術(shù)的最主要的手術(shù)指證,嚴(yán)重影響女性的身體健康及生活質(zhì)量,但是其發(fā)病原因以及其臨床表現(xiàn)異質(zhì)性的原因均不明確。最近的研究發(fā)現(xiàn),遺傳因素在子宮肌瘤的發(fā)病中起重要的作用。本研究從遺傳學(xué)角度出發(fā),探究子宮肌瘤家族聚集傾向與子宮肌瘤疾病表現(xiàn)以及相關(guān)基因突變的關(guān)系。 研究方法 收集2012年北京協(xié)和醫(yī)院婦產(chǎn)科進行的子宮肌瘤手術(shù)病例,以家族史為分組標(biāo)準(zhǔn),分為家族組和散發(fā)組,統(tǒng)計兩個研究組的患者在發(fā)病年齡、臨床表現(xiàn)及肌瘤復(fù)發(fā)方面的差異。并選取有明顯子宮肌瘤家族史的家系一例,以其基因DNA組為模板,對目標(biāo)基因延胡索酸水合酶(Fumarate Hydrase, FH)進行擴增并測序,篩查是否存在變。 研究結(jié)果 本次研究共納入523例子宮肌瘤病案,失訪36例,失訪率6.9%。與散發(fā)組相比,家族組患者的平均發(fā)病年齡明顯低于散發(fā)組(31.6±5.62歲vs37.09±8.04歲；p0.01),其接受手術(shù)的年齡也明顯低于散發(fā)組(34.9±6.39歲vs41.1±8.39歲；p0.01)。而家族組出現(xiàn)壓迫癥狀(36%vs19.2%；p=0.043)、慢性盆腔疼痛(8%vs1.1%；p=0.045)和痛經(jīng)(36%vs17.9;p=0.025)的發(fā)生率明顯高于散發(fā)組。其他臨床癥狀與復(fù)發(fā)情況方面,無明顯的統(tǒng)計學(xué)顯著性差異。 對有明顯子宮肌瘤家族史的家系成員的FH基因進行測序后,未發(fā)現(xiàn)基因編碼區(qū)的雜合變異。 研究結(jié)論 有子宮肌瘤家族史的患者在發(fā)病年齡和手術(shù)年齡上均較散發(fā)組年輕,且相關(guān)臨床癥狀的發(fā)生率更高。家系的目標(biāo)基因測序未發(fā)現(xiàn)遺傳性平滑肌瘤病及腎細胞癌(Hereditary Leiomyomatosis and Renal Cell Cancer, HLRCC)致病基因的突變,故該家系的子宮肌瘤為非綜合征性子宮肌瘤,且非綜合征性子宮肌瘤與傳性平滑肌瘤病及腎細胞癌癥候群的致病基因.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 鹵5.62 years vs37.09 鹵8.04 years; p0.01), and the age of operation was significantly lower than that in the sporadic group (34.9 鹵6.39 years old vs41.1 鹵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
【學(xué)位授予單位】：北京協(xié)和醫(yī)學(xué)院
【學(xué)位級別】：博士
【學(xué)位授予年份】：2014
【分類號】：R737.33
本文編號：2455533
[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 鹵5.62 years vs37.09 鹵8.04 years; p0.01), and the age of operation was significantly lower than that in the sporadic group (34.9 鹵6.39 years old vs41.1 鹵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
【學(xué)位授予單位】：北京協(xié)和醫(yī)學(xué)院
【學(xué)位級別】：博士
【學(xué)位授予年份】：2014
【分類號】：R737.33
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