Complex chromosome rearrangements involving 12q14 in two uterine leiomyomas

Cytogenetic analysis of short-term cultures from 10 uterine leiomyomas revealed normal karyotypes in 8 and clonal complex chromosome rearrangements in 2 tumors. In both leiomyomas with clonal abnormalities, 12q14, but not 14q22-24, was involved in translocations with 1q43 in one tumor and with 12q24 in the other. Additional chromosome abnormalities were found in both cases: 1-5 rings and monosomy of chromosome 9 in case 1, and complex numerical and structural abnormalities of chromosomes 1, 6-8, 11, 13, 16, 17, and 22 in case 2. The consistent cytogenetic rearrangement of 12q14 in uterine leiomyomas, sometimes without concomitant 14q changes, indicates that a gene of critical importance for leiomyoma development may be found in this band.