Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids
Article first published online: 6 JUL 2012
© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology
Journal of Obstetrics and Gynaecology Research
Volume 39, Issue 1, pages 410–414, January 2013
How to Cite
Kubinova, K., Tesarova, M., Hansikova, H., Vesela, K., Kuzel, D. and Mara, M. (2013), Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. Journal of Obstetrics and Gynaecology Research, 39: 410–414. doi: 10.1111/j.1447-0756.2012.01939.x
- Issue published online: 7 JAN 2013
- Article first published online: 6 JUL 2012
- Received: June 15 2011.; Accepted: April 14 2012.
- FH gene;
- fumarate hydratase;
- uterine fibroids
Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine leiomyomata /HLRCC. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. In patient 1, a novel heterozygous mutation c.892G>C was found. In patient 2 we detected heterozygous mutation c.584T>C. Both the patients had a negative family history for renal cancer and cutaneous leiomyomatosis. None of the relatives, however, underwent renal imaging at the time of writing. FH mutation carriers may be easily identified by analysis of fumarate hydratase activity in blood lymphocytes. We suggest performing fumarate hydratase activity or FH mutation screening in women with onset of uterine fibroids in their 20s and family history of uterine fibroids or other HLRCC-associated malignancies.