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中国东北地区鼻NK/T细胞淋巴瘤中p53、K-ras、c-kit和β-连环蛋白基因突变分析

Analysis of p53, K-ras, c-kit, and beta-catenin gene mutations in sinonasal NK/T cell lymphoma in northeast district of China.

作者信息

Hoshida Yoshihiko, Hongyo Tadashi, Jia Xinshan, He Yanjiao, Hasui Kazuhisa, Dong Zhiming, Luo Wen-Juan, Ham Maria Francisca, Nomura Taisei, Aozasa Katsuyuki

机构信息

Department of Pathology (C3), Osaka University Medical School, Suita.

出版信息

Cancer Sci. 2003 Mar;94(3):297-301. doi: 10.1111/j.1349-7006.2003.tb01436.x.

Abstract

Recently we reported the different frequencies of p53 and c-kit gene mutations among sinonasal NK/T cell lymphoma (NKTCL) in Korea, north China (Beijing), and Japan, suggesting some racial, environmental, or life-style differences as a possible cause of nasal tumorigenesis. In this study, gene mutations in p53, c-kit, K-ras, and beta-catenin gene were analyzed by polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) followed by direct sequencing in 20 cases of sinonasal NKTCL from northeast China (Shen Yang). Age of patients ranged from 5 to 63 (median, 40.0) years. p53 gene mutations were found in eight of 20 cases (40%), with exon 4 involvement in 10% of cases. The majority was missense mutations and G:C to A:T transition was predominant. The frequency of the c-kit and K-ras gene mutations was low (5%), while that of the beta-catenin gene was six of 20 cases (30%). From these findings, it is concluded that nasal NKTCL in northeast China shared common features with that in Korea in the younger onset of disease compared to that in Japan and lower frequency of p53 gene mutations with infrequent exon 4 involvement compared to that in Japan and north China. These differences might be caused by migration of susceptible populations or some environmental confounding factors.

摘要

最近我们报道了韩国、中国北方(北京)和日本鼻型NK/T细胞淋巴瘤(NKTCL)中p53和c-kit基因突变的不同频率,提示某些种族、环境或生活方式差异可能是鼻腔肿瘤发生的原因。在本研究中,对来自中国东北(沈阳)的20例鼻型NKTCL患者,采用聚合酶链反应(PCR)-单链构象多态性(SSCP)分析p53、c-kit、K-ras和β-连环蛋白基因突变,随后进行直接测序。患者年龄范围为5至63岁(中位数40.0岁)。20例中有8例(40%)发现p53基因突变,10%的病例外显子4受累。大多数为错义突变,且G:C到A:T的转换为主。c-kit和K-ras基因突变频率较低(5%),而β-连环蛋白基因突变频率为20例中的6例(30%)。从这些结果得出结论,中国东北的鼻型NKTCL与韩国的鼻型NKTCL具有共同特征,即与日本相比发病年龄较轻,与日本和中国北方相比p53基因突变频率较低且外显子4受累不常见。这些差异可能是由易感人群的迁移或一些环境混杂因素引起的。

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