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Prevalence of MED 12 mutations in uterine and extrauterine smooth muscle tumours
Author(s) -
Matsubara Akiko,
Sekine Shigeki,
Yoshida Masayuki,
Yoshida Akihiko,
Taniguchi Hirokazu,
Kushima Ryoji,
Tsuda Hitoshi,
Kanai Yae
Publication year - 2013
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12039
Subject(s) - leiomyosarcoma , smooth muscle tumor , leiomyoma , sanger sequencing , uterine leiomyoma , smooth muscle , pathology , uterus , biology , medicine , mutation , gene , genetics
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.