Zentrum für Humangenetik Bremen

Universität Bremen, Leobener Str. ZHG, D-28359 Bremen

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Uterine leiomyomas are the most common benign mesenchymal tumors in women. At least one third of all women aged over 30 are affected. Leiomyomas may be asymptomatic but can e.g. also lead to severe bleeding and pain. They can also lead to infertility or miscarriages. Treatment is either medicamentous (hormonal oder anti-hormonal) or surgically (myomectomy or even hysterectomy).
Leiomyoma arise from smooth muscles. It is not exactly known what causes them, but a combination of genetical, hormonal and environmental influences (e.g. viral infection (Bullerdiek 1997)) is suspected.
Cytogenetically they are well characterized. Common are aberrations involving chromosomal region 12q14-15, especially as a translocation t(12;14)(see Stern et al., Geburtshilfe Frauenheilk. 1992, 52: 767-772). Affected by this aberration is HMGA2, a member of the High Mobility Group Protein Genes (Schoenmakers et al., Nat. Genet. 1995, 10: 436-444). In some of the tumors with a chromosome 12 translocation the gene expression is altered but fusion genes, e.g. with RAD51L1, are found, too.