The del(7q) subgroup in uterine leiomyomata: Genetic and biologic characteristics: Further evidence for the secondary nature of cytogenetic abnormalities in the pathobiology of uterine leiomyomata

Rearrangement of 7q represents one of the major cytogenetic subgroups in uterine leiomyomata, the most common tumors arising in females. Herein we report cytogenetic analyses on a series of 22 cases of uterine leiomyomata with 7q abnormalities, and describe observations regarding tumor size and maintenance of the tumor cells in culture. We discuss the frequent finding of mosaic tumors containing both cells with the 7q rearrangement and karyotypically normal cells. Clonality studies of three mosaic cases reveal nonrandom X chromosome inactivation substantiating prior findings suggesting the secondary nature of chromosome aberrations in these tumors. Genes mapped in 7q22 and those identified in the pathobiology of other uterine leiomyomata subgroups are discussed in addition to a perspective on the role of the 7q22 leiomyomata gene.