Chromosome Imbalances and Alterations in the p53 Gene inUterine Myomas from the Same Family Members: FamilialLeiomyomatosis in Turkey

Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associatedwith a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play acrucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated theeffects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoingmyomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was alsoused on interphase nuclei to screen for deletions. In patients, CAs were found in 23.4% of 500 cells analysed,significantly more frequent than in the control group (p<0.001). In the patients, 76% of the abnormalities werestructural aberrations (deletions, translocations and breaks), and only 24% were numerical. Deletions were themost common structural aberration observed in CAs. Among these CAs, specific changes in five loci 1q11, 1q42,2p23, 5q31 and Xp22 have been found in our patients and these changes were not reported previously in UL.The chromosome breaks were more frequent in cases, from high to low, 1, 2, 6, 9, 3, 5, 10 and 12. Chromosome22, X, 3, 17 and 18 aneuploidy was observed to be the most frequent among all numerical aberrations. Weobserved a low frequency of p53 losses (2-11%) in our cases. The increased incidence of autosomal deletions,translocations, chromatid breaks and aneuploidy, could contribute to the progression of the disease along withother chromosomal alterations.