Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours. Issue 4 (24th January 2013)

• Record Type: Journal Article
• Authors: Matsubara, Akiko; Sekine, Shigeki; Yoshida, Masayuki; Yoshida, Akihiko; Taniguchi, Hirokazu; Kushima, Ryoji; Tsuda, Hitoshi; Kanai, Yae
• Is Part Of: Histopathology. Volume 62:Issue 4(2013)
• Page Start: 657
• Page End: 661
• Publication Date: 2013-01-24
• Subjects: Histology, Pathological -- Periodicals; 611.018
• DOI: 10.1111/his.12039
• Languages: English
• ISSNs: 0309-0167

Abstract

<abstract abstract-type="main" id="his12039-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="his12039-sec-0001" sec-type="section"> <title>Aims</title> <p>To determine the prevalence of <italic>MED12</italic> mutations in smooth muscle tumours of different organs.</p> </sec> <sec id="his12039-sec-0002" sec-type="section"> <title>Methods and results</title> <p>A total of 142 smooth muscle tumours of the uterus, gastrointestinal tract, retroperitoneum and soft tissue were analysed for <italic>MED12</italic> mutations using Sanger sequencing. Among the uterine tumours that were examined, <italic>MED12</italic> 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 <italic>MED12</italic>‐mutated leiomyosarcomas were associated with benign leiomyomatous components that also harboured <italic>MED12</italic> mutations identical to those in the respective leiomyosarcomatous components. None of the extrauterine smooth muscle tumours, including the leiomyomas, leiomyosarcomas, and angioleiomyomas, had <italic>MED12</italic> mutations.</p> </sec> <sec id="his12039-sec-0003" sec-type="section"> <title>Conclusions</title> <p>Among uterine smooth muscle tumours, <italic>MED12</italic> 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 <italic>MED12</italic> mutations.</p> </sec> </abstract>