Leiomyomata: heritability and cytogenetic studies

Leiomyomata represent the most common gynaecological tumour in women of rep roductive age, and are the primary indication for hysterectomy in the USA. Cytogenetic and genetic studies have, in recent years, advanced our underst anding of the aetiology of these tumours, Cytogenetic aberrations involving chromosomes 6, 7, 12 and 14 constitute the major chromosomal abnormalities seen in leiomyomata, and suggest the possibility that disruption or dysreg ulation of the genes HMGIC and HMGIY may contribute to the development of t hese tumours, Based on the finding of a variety of chromosomal aberrations detected in fibroids, other genes with fundamental roles in the pathobiolog y of uterine leiomyomata await identification. Furthermore, the incidence o f fibroids has been shown to be greater in African-American women than in C aucasian women. The existence of a heritability component of uterine leiomy omata has been further implicated by twin-pair studies and the existence of familial forms of leiomyomata, both of which suggest an inherited diathesi s for leiomyomata formation. This paper will review the cytogenetic aberrat ions and gene expression, with respect to their contributions to the pathog enesis of leiomyomata, and also summarize the current understanding of heri tability of these tumours.