News Releases & Research Results Genomic analysis for uterine adenomyosis identifies genetic mutations associated with the concurrence of disease onset and uterine endometriosis; elucidation of the pathogenesis of adenomyosis is expected

Results of research carried out by collaborative research led by National Cancer Center Research Institute, the University of Tokyo, Juntendo University, and Japanese Foundation for Cancer Research

• Characteristic genetic mutations associated with uterine adenomyosis* were identified for the first time in the world.
  *Uterine adenomyosis is a benign gynecological condition in which endometrium-like tissues appear in the uterine myometrium. It may be associated with intense menstrual pain, and may also lead to infertility.
• Specifically, the genome analysis of patients with uterine adenomyosis combined with uterine endometriosis was conducted, and the analysis data was collated with the patients’ clinical information. As a result, uterine adenomyosis was found to be an oligoclonal proliferation disease associated with genomic abnormalities.
• The research results revealed a mechanism for the frequent concurrence of uterine endometriosis and uterine adenomyosis.

This project was conducted with the support of Project for Cancer Research and Therapeutic Evolution (P-CREATE) and Project for Whole Implementation to Support and Ensure the Female Life (WISE) by AMED.

The research results were published in Nature Communications, a British scientific journal available online, on December 19.

Inoue S., et al. Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutationseLife

DOI：10.1038/s41467-019-13708-y