To determine the frequency of mediator complex subunit 12 (MED12) mutations in well-documented, prospectively collected, unselected series of sporadic uterine leiomyomas to better understand the contribution of MED12 mutations in leiomyoma genesis.
Design
Mutation analysis of two prospectively collected sample series.
Setting
Department of gynecology in university hospital and medical genetics research laboratory.
Patient(s)
164 uterine leiomyomas from 28 patients (13 consecutive and 15 unselected patients) undergoing hysterectomy.
Intervention(s)
MED12 mutation screening by direct sequencing, and clinical data collection.
Main Outcome Measure(s)
MED12 mutation status and various clinical variables.
Result(s)
MED12 mutations were found in 73 (83.0%) of 88 and 65 (85.5%) of 76 of uterine leiomyomas from the consecutive and unselected patient series, respectively. Smaller tumor size and a larger number of tumors correlated with positive MED12 mutation status.
Conclusion(s)
The frequency of MED12 mutations in our prospectively collected uterine leiomyoma sets was higher than in previous works. This is in keeping with the concept that MED12 mutation-positive tumors tend to be smaller in size than MED12 mutation-negative tumors. The results highlight the central role of MED12 mutations in uterine leiomyoma genesis.
Key Words
Fibroids
genetics
MED12
uterine leiomyomas
Cited by (0)
H.-R.H. has nothing to disclose. N.S.S. has nothing to disclose. J.S. has nothing to disclose. K.K. has nothing to disclose. E.P. has nothing to disclose. P.V. has nothing to disclose. N.M. has nothing to disclose. L.A.A. has nothing to disclose.
Supported by the Academy of Finland, Center of Excellence in Cancer Genetics Research (grant 250345) and Academy Research Fellow (grant 260370), the Sigrid Jusélius Foundation, the Cancer Society of Finland, the Maud Kuistila Memorial Foundation (to N.M.), and Biomedicum Helsinki-säätiö (to N.M.).