Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours.
OBJECTIVE
To determine the prevalence of MED12 mutations in smooth muscle tumours of different organs.


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.
Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.
Akiko
A
Matsubara
Shigeki
S
Sekine
Masayuki
M
Yoshida
Akihiko
A
Yoshida
Hirokazu
H
Taniguchi
Ryoji
R
Kushima
Hitoshi
H
Tsuda
Yae
Y
Kanai
D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007889:Leiomyoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D056892:Mediator Complex / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012186:Retroperitoneal Neoplasms / Q000235:genetics* / Q000378:metabolism; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000378:metabolism; D014594:Uterine Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D014408:Biomarkers, Tumor; C460107:MED12 protein, human; D056892:Mediator Complex