An observation of chromosomal abnormalities and MYCN and AURKA gene changes in the neuroblastoma patients

Neuroblastoma is an embryonal tumor stemming from the precursor cells of the sympathetic nervous system. Numerous gene abnormalities and the MYCN gene are known to be the causative effects in the formation of the NB disease. Furthermore, the AURKA gene is claimed to have an influence on the MYCN gene. For this reason, these genetic changes considered to play a role in the etiology of NB were aimed to be investigated in the present study.In our study, 25 patients applying to University of Çukurova, Faculty of Medicine, Pediatric Oncology with a neuroblastoma pre-diagnosis were included. Also, a control group consisting of 25 individuals who were the same age and gender as the target group and without a family history of cancer were included in the study and investigated in cytogenetic terms. The MYCN and AURKA gene changes in the paraffin tissue of 9 of the patient group (36%) were determined through the FISH technique. The chromosomal abnormalities in the blood tissues of both the patient group and the control group were investigated through the utilization of standard cytogenetic procedures.In the present study, chromosomal abnormalities in the blood tissues were identified in 21 (%84) patients of the 25 patient group. Chromosomal abnormalities were observed in 18,4% of the cells of the patient group and 2,6% of the control group. The difference between the patient and the control group was considered to be statistically significant (p<0,0001). It was reported that 72% of these abnormalities were structural while 28% of them quantitative. Of these abnormalities, 1q21, 1q32, 2p24, 2q21, 2q31, 4q31, 9q11, 9q22, 13q14, 14q11, 14q24 and 15q22 were identified to be critical regions in the formation of NB. These areas were also reported to be the hot regions where oncogenes and proto-oncogenes are present and are involved in the etiology of NB. In 6 (66,7%) of the 9 patients whose paraffin tissue was studied, MYCN, and AURKA gene amplifications were identified in 85.7% of only the grade 4 patients. The percentages obtained in the present study were found to be consistent with the related literature.In conclusion, based on the finding of the present study, we can maintain that chromosomal abnormalities are important in the etiology of NB and that 1q21, 1q32, 2p24, 2q21, 2q31, 4q31, 9q11, 9q22, 13q14, 14q11, 14q24 and 15q22 are the regions of utmost importance in the diagnosis and prognosis of the disease and could be the target regions in the investigation of the genes associated with this disease. Moreover, since there is a parallel connection between the increase in MYCN and AURKA gene amplification and the advanced stages (3, 4) of the disease, these amplifications values could be regarded as important criteria in the diagnosis and prognosis of the disease.Key words: Chromosome, Gene, Chromosomal abnormalities, AURKA, MYCN