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Microsatellite Instability and Loss of Heterozygosity in Nasopharyngeal Carcinoma

鼻咽癌基因的微細片段不穩定性及失異合性

摘要


背景:鼻咽癌是台灣常見的頭頸部惡性腫瘤,致癌因子包括有遺傳因素、環境因素及EB病毒的感染。微細片段的缺失或改變,可推測該變異段存在抑癌基因或是有配合錯誤修復基因的缺陷,在可能的致癌過程中扮演重要角色。 方法:本研究中選擇位於染色體3p、3q、9p及17p的12個微細片段標幟,利用複合的聚合酶鏈反應法,分析28例鼻咽癌病患原發部位腫瘤組織的失異合性及微細片段不穩定性的表現。 結果:在可判斷的病例中,失異合性在3p、3q、9p及17p的比率依序為53.6%(15/28)、34.6%(9/26)、67.9%(19/28)及29.6%(8/27)。微細片段不穩定性只發生於3例,其中2例位於染色體3p、1例位於染色體3q。 結論:微細片段不穩定性在鼻咽癌組織中並不常見,本研究結果顯示失異合性在染色體9p的比率相當高,值得進一步探討。

並列摘要


BACKGROUND:Nasopharyngeal carcinoma is a common cancer of the head and neck in Taiwan. Genetic factors, environmental factors and Epstein-Barr virus infection are considered to be involed in the etiology of this disease. Microsatellite DNA alter-ations are an integral part of neoplastic progression and are valuable as clonal markers for the detection of human cancers. METHODS:In order to identify chromosomal alterations in patients with NPC in Taiwan, we analyzed DNA from 28 primary NPC samples for loss of heterozygosity and microsatellite instability at microsatellite loci using multiplex PCR. Twelve microsatellite repeats on the chromosome 3p, 3q, 9p, 17p regions were used. RESULTS:In informative cases, the frequencies of LOH on chromosome 3p, 3q, 9p and 17p were 53.6%(15/28), 34.6%(9/26), 67.9%(19/28) and 29.6%(8/27). MIS was present in 3 cases(2 on chromosome 3p and one on chromosome 3q). CONCLUSIONS:Our study reveals that MIS is a relatively rare event in NPC. In the present study, the highest incidence of LOH was found on chromosome 9p. It is interest-ing to investigate whether genetic alteration of chromosome 9p is an early event in the carcinogenesis of NPC.

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