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CDKN2A基因A148T变异在膀胱癌患者中的意义。

Significance of CDKN2A gene A148T variant in patients with bladder cancer.

作者信息

Borkowska Edyta, Jędrzejczyk Adam, Kruk Andrzej, Pietrusiński Michał, Traczyk Magdalena, Rożniecki Marek, Kałużewski Bogdan

机构信息

Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.

Department of Urology, John Paul II Regional Hospital in Bełchatów, Poland.

出版信息

Cent European J Urol. 2011;64(3):168-74. doi: 10.5173/ceju.2011.03.art17. Epub 2011 Sep 6.

Abstract

OBJECTIVES

The A148T polymorphism of CDKN2A gene is observed in various neoplasms with the incidence rate of 3-35%, however, rather little is known either about the frequency of its occurrence or of its significance in urinary bladder carcinoma.

MATERIALS AND METHODS

DNA was isolated from blood of 156 patients with urinary bladder carcinoma (130 men). In histopathology, 84 cases were classified as G1, 42 as G2, and 30 as G3. The clinical stage was in 81 cases estimated at Ta and in 75 cases at T1-T4. A148T polymorphism was detected by the MSSCP technique and by sequencing.

RESULTS

A148T polymorphism was identified in 9/156 urinary bladder carcinoma cases (only in men). The obtained results were compared with the polymorphism incidence for the Polish population, estimated by Debniak et al. The occurrence in the group of the bladder cancer patients turned out higher (5.77%) from that in the control group (2.89%) (G test, table 2×2: NBLADDER CANCER = 156, NCONTROL = 1210, G = 4.298, p <0.05).

CONCLUSION

Summing up and taking into account the analysis of clinical parameters and the age of the disease occurrence, the A148T polymorphism of CDKN2A gene was identified in the study group only in men, in whom the disease was diagnosed above the age of 60, while the diagnosed neoplasms were in the majority of cases characterized by higher clinical stages and higher grades of malignancy. This has been the first study that attempted to show a potential association between A148T alterations and an increased risk for bladder cancer development.

摘要

目的

CDKN2A基因的A148T多态性在多种肿瘤中均有观察到,发生率为3% - 35%,然而,关于其在膀胱癌中的发生频率及其意义却知之甚少。

材料与方法

从156例膀胱癌患者(130例男性)的血液中分离DNA。在组织病理学方面,84例被分类为G1级,42例为G2级,30例为G3级。临床分期方面,81例估计为Ta期,75例为T1 - T4期。通过MSSCP技术和测序检测A148T多态性。

结果

在156例膀胱癌病例中有9例(仅男性)鉴定出A148T多态性。将所得结果与Debniak等人估计的波兰人群多态性发生率进行比较。结果显示,膀胱癌患者组的发生率(5.77%)高于对照组(2.89%)(G检验,2×2表:膀胱癌组 = 156,对照组 = 1210,G = 4.298, p < 0.05)。

结论

综上所述,综合临床参数分析和疾病发生年龄,研究组中仅在60岁以上被诊断患有该疾病的男性中鉴定出CDKN2A基因的A148T多态性,而所诊断的肿瘤在大多数情况下具有较高的临床分期和较高的恶性程度。这是首次试图表明A148T改变与膀胱癌发生风险增加之间潜在关联的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c6f/3921733/ab25014ab98d/CEJU-64-00102-g001.jpg

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