OC10.04: Predicting outcomes for fibroid therapies: clinical research and genetics

Abstract

Despite their importance to clinical gynecology, uterine leiomyomas, commonly known as fibroids, have rarely been the subject of clinical outcomes research. Additionally the high risk of recurrent fibroid formation following conservative therapy makes predictors of outcome useful in counseling women. There is even little information regarding treatment outcomes with standard demographic and anthropometrics predictors of treatment success of failure. The increasing use of minimally invasive therapies to target specific myomas makes prediction of high-risk women more important than when hysterectomy was the standard therapy. Understanding the biologic and genetic diversity underlying the clinical heterogeneity of this disease will markedly change future treatments. Several genes including fumurate hydratase (FH) and high mobility group A2 (HMGA2) have been identified as important in the formation and growth of uterine leiomyomas. Genotype/phenotype correlations are also beginning to be identified, including several instances where the risk of malignant disease is increased. The power of advanced imaging also may provide markers of specific phenotypes allowing non-invasive genotype/phenotype correlation. A genome-wide scan such as the Finding Genes for Fibroid Project (www.fibroids.net) will also be instrumental in finding additional genes, which influence disease outcome. This is especially important because genes identified to date appear to primarily affect Caucasian women and the increased relative risk and incidence rates in AfricanAmerican women has been well documented. Furthermore, research in genetic epidemiology will set the stage for prevention strategies for high-risk young women and potentially develop new therapeutic targets.