한국인에서 NK/T cell Iymphoma의 c-kit 유전자 변이에 관한 연구
Analysis of c-kit gene mutation in NK/T cell lymphoma in Korean population
한국인 NK/T cell lymphoma c-kit;
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Introduction: The proto-oncogene c-KIT encodes a receptor tyrosine kinase(KIT) whose ligand is stem cell factor. KIT is expressed by and critical for the development and growth of mast cells, melanocytes, hematopoetic stem cells, and the interstitial cells of Cajal. In this study, c-kit gene mutations were analyzed in 27 cases of NK/T cell lymphoma. Materals and Methods: During 1995 to 2002, 27 patients with NK/T cell lymphoma in the head and neck area were selected for this study. The nasal cavity were predominant sites(15 cases), followed by the nasopharynx 6 cases, tonsil 4 cases, and hard palate 2 cases. Gene mutation was analyzed by PCR-SSCP and direct sequencing. Results: c-kit gene mutation was found in 5 of 27 cases by PCR-SSCP method. Among these 5 cases, 2 cases exhibited no mutation by direct sequencing. Consequently, mutation of c-kit gene was detected in 3 of 27 cases. Discussion: As for the c-kit gene, a much higher frequency of mutation in case of north China(71.4%) compared to that in Japan(5.5%) was reported. The current cases showed a lower frequency of c-kit gene mutation(11%) than that of north China. These finding might be caused by migration of susceptible populations or some environmental confounding factors such as EB virus infection.