| Objective:Dectecting the hTERT gene promoter region mutations of Uygur and Han melanoma patients, and then investigate the relationship between hTERT gene promoter mutations and the clinicopathological characteristics. Methods:63 samples, including 58 primary and 5 metastatic melanoma patients’ clinical and pathological data were collected from January,2009 to January,2014 of the Department of Dermatology and Pathology of People’s Hospital of Xinjiang Uygur Autonomous Region. All of the patients’diagnosis were tested and verified by histopathology. Regular PCR and directed DNA sequencing were used to detect the mutations of hTERT gene promoter. Results:The average age was 64 years old (22-95) among 63 melanoma.25 of 63 were detected hTERT gene promoter mutations,23 cases occurred in the primary melanoma,2 cases occurred in metastatic melanoma. Among 25 mutations cases,19 occurred at-245 bp upstream from the ATG start site,5 occurred C250T mutation, only one case had C228T mutation.10 of 25 melanoma with hTERT promoter mutations also harbored the BRAF V600E mutation, whereas the BRAF V600E mutation was present in 2 out of 38 melanoma without hTERT promoter mutations (P-0.001). The hTERT gene promoter mutation rate was different in different types of melanoma (P=0.003). The promoter region of hTERT gene mutation had no correlation with the patient’s ethnic group, sex and age (P>0.05). Conclusions:The high prevalence of hTERT gene promoter mutations here and a new mutation site, meanwhile the most common mutation site:-245 bp upstream from the ATG start site, may be expected to become the new target of molecular targeted therapy. The promoter region of hTERT gene mutations are closely related to the different type of melanoma, but no correlation with ethnic group, sex and age. |
