Biomarkers of Uterine Fibroids

  • Shun SatoEmail author
  • Norihiro Sugino
Part of the Comprehensive Gynecology and Obstetrics book series (CGO)


Although uterine leiomyomas, or fibroids, are benign tumors, surgery has been the main mode of therapy for them. Because women who wish to retain the uterus for future pregnancies are increasing in number due to an increase in the average age of childbearing, therapy with molecular-targeted agents is desired. The development of effective agents requires a better understanding of the molecular mechanisms involved in the onset and development of leiomyomas. In addition, because uterine leiomyosarcomas, which, unlike leiomyomas, are malignant, occur in a similar location and have similar shapes, differentiating leiomyomas from leiomyosarcomas is needed to retain the uterus. Therefore, in this chapter, we focus on the pathological diagnostic markers that appear to be involved in the mechanisms of the onset and development of leiomyomas and the differential diagnostic markers to distinguish them from leiomyosarcomas. To identify the pathological diagnostic markers of leiomyomas, previous studies have used cytogenetic status, mRNA, microRNA and protein expression, and DNA methylation patterns. In recent years, genome-wide sequencing studies have associated leiomyomas most frequently with somatic mutations of the MED12 gene and less frequently with several other genomic alterations. To identify candidate markers for differential diagnosis, several studies have used microRNA expression, omics, and immunohistochemical analyses. Here, we outline the above findings and describe our recent application of leiomyoma-specific marker genes that have aberrant DNA methylation, to distinguish leiomyomas from leiomyosarcomas.


Diagnostic biomarkers Uterine leiomyoma Uterine leiomyosarcoma 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyYamaguchi University School of MedicineUbe, YamaguchiJapan

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