title: Chromosome imbalances and alterations in the p53 gene in uterine myomas from the same family members: familial leiomyomatosis in Turkey.
abstract: Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoing myomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was also used 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 were structural aberrations (deletions, translocations and breaks), and only 24% were numerical. Deletions were the most 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. Chromosome 22, X, 3, 17 and 18 aneuploidy was observed to be the most frequent among all numerical aberrations. We observed 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 with other chromosomal alterations.
authors.affiliation: Department of Pathologi, Tayfur Ata Sokmen Faculty of Medicine, Mustafa Kemal University, Hatay, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Hakverdi
authors.forename: Osman
authors.initials: O
authors.lastname: Demirhan
authors.forename: Erdal
authors.initials: E
authors.lastname: Tunc
authors.forename: Nihal
authors.initials: N
authors.lastname: Inandiklioglu
authors.forename: Inayet Nur
authors.initials: IN
authors.lastname: Uslu
authors.forename: Arif
authors.initials: A
authors.lastname: Gungoren
authors.forename: Duygu
authors.initials: D
authors.lastname: Erdem
authors.forename: Ali Ulvi
authors.initials: AU
authors.lastname: Hakverdi
mesh_terms: D019457:Chromosome Breakage; D002872:Chromosome Deletion; D020732:Cytogenetic Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018231:Leiomyomatosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D014421:Turkey; D014594:Uterine Neoplasms / Q000235:genetics
chemical_list: D016159:Tumor Suppressor Protein p53