MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors.

@article{Schwetye2014MED12E2,
  title={MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors.},
  author={Katherine E Schwetye and John D. Pfeifer and Eric J. Duncavage},
  journal={Human pathology},
  year={2014},
  volume={45 1},
  pages={65-70}
}
Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 143 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. MED12 mutations were detected in 54% of classical uterine leiomyomas (15/28) and in 15% of cases in myometrium adjacent to… CONTINUE READING