Significance of CDKN2A gene A148T variant in patients with bladder cancer.
Significance of CDKN2A gene A148T variant in patients with bladder cancer.
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DOI：
10.5173/ceju.2011.03.art17
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发表时间：
2011
影响因子：
1.2
通讯作者：
Kałużewski B
中科院分区：
文献类型：
--
作者：
Borkowska E;Jędrzejczyk A;Kruk A;Pietrusiński M;Traczyk M;Rożniecki M;Kałużewski B
CDKN2A基因A148T多态在多种肿瘤中广泛存在，其发生率为3-35%，但其在膀胱癌中的发生频率及其意义尚不清楚。从156例膀胱癌患者(130例)的血液中提取DNA。病理组织学类型为G1型84例，G2型42例，G3型30例。Ta分期81例，T1-T4分期75例。采用MSSCP技术和测序方法检测A148T基因的多态性。在156例膀胱癌患者中，有9例检测到A148T基因多态性(仅在男性)。将获得的结果与Debniak等人估计的波兰人群的多态发生率进行比较。膀胱癌患者组发病率(5.77%)明显高于对照组(2.89%)(G检验，表2×2：膀胱癌=156例，对照组=1210例，G=4.298，p<；0.05)。综上所述，考虑临床参数和发病年龄的分析，CDKN2A基因A148T多态性在研究组中仅见于60岁以上的男性，而诊断的肿瘤大多具有较高的临床分期和较高的恶性程度。这是第一项试图显示A148T基因改变与膀胱癌发病风险增加之间潜在关联的研究。
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. 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. 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). 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.