Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma

Document Type : Research Articles


1 Department of Pathophysiology, Krasnoyarsk State Medical University, P. Zeleznyaka str. 1, 660022, Krasnoyarsk, Russian Federation.

2 Krasnoyarsk Scientific Center of the Siberian Branch the Russian Academy of Sciences, 50, Акаdemgorodok Str., Krasnoyarsk, 660036, Russian Federation.


Objective: The aim of the present study was to analyze mutations of the mast/stem cell growth factor receptor Kit (KIT) gene in patients with melanoma from Eastern Siberia regions of the Russian Federation. Methods: KIT gene mutations in exons 11 and 13 were analyzed by Sanger sequencing in 57 tumor samples obtained from patients with KIT-positive melanomas localized in preferable locations. Result: Mutations were identified in 21% of patients. Among them, multiple mutations were identified in five patients. A total of 18 mutations were observed in the KIT gene, of which three were deletions and fourteen substitution mutations. Age, gender and clinicopathological characteristics of patients with cutaneous KIT-positive melanoma in Eastern Siberia corresponded to the European population. According to computational prediction tools, all mutations were evaluated as potentially harmful. Conclusion: The six novel mutations reported in the present study expand our knowledge on the molecular pathogenesis of melanoma, which can be used to further explore methods to improve disease therapeutic strategies. 


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