Study On The Aggregation Tendency Of Uterine Fibroids

BACKGROUNDUterine Leiomyoma is the most common genital tumor in women, and also the main indication leading to a hysterectomy, which has bad influence on women’s health and quality of life. However, the aetiological cause and the reason of its clinical heterogeneity remain unclear. Recent research implied genetic factor plays important role in pathogenesis of uterine leiomyoma. Our research aims to investigate whether familial prevalence is associated with distinct clinical feature and certain gene mutation.METHODWe collected and reviewed hospitalized case files of uterine leiomyoma in PUMCH, Department of Obstetrics and Gynecology in2012. Group those cases into familial prevalence and sporadic based on family history, and compare the difference of age of onset, clinical feature and recurrence. We chose one family with strong family history, and took their genome DNA as template, amplified gene of Fumarate Hydase (FH) and sequenced to screen mutation.RESULTSOur study enrolled523cases of uterine leiomyoma,36cases was lost in follow up, and the lost to follow-up rate is6.9%. When compare families with sporadic uterine leiomyomas, patients with family prevalence of uterine leiomyoma was associated with younger age of onset (31.6±5.62vs37.09±8.04; p<0.01) and surgery (34.9±6.39vs41.1±8.39; p<0.01), higher incidence of pressure symptom (36%vs19.2%; p=0.043), chronic pelvic pain (8%vs1.1%;p=0.045) and dysmenorrhea (36%vs17.9; p=0.025). There is no obvious statistic difference in other clinical features and recurrence. After sequencing of FH gene of the family members who have a strong family history of uterine leiomyoma, there is no heterozygosis in the coding area of FH.CONCLUSIONPatients with family history of uterine leiomyoma tend to onset and take surgery at a younger age, and have higher incidence of certain clinical features. There is no mutation in the candidate gene of the family, which indicates the familial prevelance is nonsyndromic leiomyoma, not HLRCC. Genetic factor of pathogenesis of nonsyndromic leiomyoma is different from that of syndromic leiomyoma.