Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours

Akiko Matsubara, Shigeki Sekine, Masayuki Yoshida, Akihiko Yoshida, Hirokazu Taniguchi, Ryoji Kushima, Hitoshi Tsuda, Yae Kanai

Research output: Contribution to journalArticlepeer-review

72 Citations (Scopus)


Aims: To determine the prevalence of MED12 mutations in smooth muscle tumours of different organs. Methods and results: A total of 142 smooth muscle tumours of the uterus, gastrointestinal tract, retroperitoneum and soft tissue were analysed for MED12 mutations using Sanger sequencing. Among the uterine tumours that were examined, MED12 mutations were identified in 36 of 45 conventional leiomyomas (80%), two of six cellular leiomyomas (33%), one of four bizarre leiomyomas (25%), none of four lipoleiomyomas (0%), and two of 12 leiomyosarcomas (17%). The two MED12-mutated leiomyosarcomas were associated with benign leiomyomatous components that also harboured MED12 mutations identical to those in the respective leiomyosarcomatous components. None of the extrauterine smooth muscle tumours, including the leiomyomas, leiomyosarcomas, and angioleiomyomas, had MED12 mutations. Conclusions: Among uterine smooth muscle tumours, MED12 mutations are frequently present in conventional leiomyomas, but are significantly less common in histological variants of leiomyoma and leiomyosarcoma. In contrast to uterine lesions, none of the extrauterine smooth muscle tumours had MED12 mutations.

Original languageEnglish
Pages (from-to)657-661
Number of pages5
Issue number4
Publication statusPublished - 2013 Mar
Externally publishedYes


  • Leiomyoma
  • Leiomyosarcoma
  • MED12

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology


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