Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder
Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder
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DOI：
10.1177/172460080902400103
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发表时间：
2009-01-01
影响因子：
2
通讯作者：
Spandidos, Demetrios A.
中科院分区：
文献类型：
--
作者：
Boulalas, Ioannis;Zaravinos, Apostolos;Spandidos, Demetrios A.
目的：MAP激酶通路的突变激活在许多类型的癌症中经常被发现。最近，BRAF基因的激活突变，这一途径的重要激活剂，已被描述在几种肿瘤类型，包括黑色素瘤，结直肠癌和乳头状甲状腺癌。最常见的突变在外显子15（V600 E），以及其他几个外显子11和15内的突变导致组成性激活的oncoprotein.Materials和方法：我们的研究旨在探讨BRAF突变在30人膀胱肿瘤及其邻近正常组织。采用PCR/RFLP方法检测V600 E突变，并对BRAF基因第11、14和15外显子（包括内含子-外显子边界）进行测序。一个样品显示T1799 A（V600 E），另一个样品显示G1798 T（V600 L）突变。第一个标本是pT 1a期和II级，而第二个是pT 2b期和III级。外显子11，14，15和内含子-外显子交界处的编码区内没有突变的其余samples.Conclusions：我们的研究结果表明，参与BRAF突变的膀胱移行细胞癌的发展是罕见的。(Int J Biol Markers 2009; 24：17-21）
Purpose: Mutational activation of the MAP kinase pathway is frequently found in many types of cancer. Recently, activating mutations in the BRAF gene, an important activator of this pathway, have been described in several tumor types including melanoma, colorectal and papillary thyroid cancer. The most frequent mutation in exon 15 (V600E) as well as several other mutations within exons 11 and 15 result in constitutive activation of the oncoprotein.Materials and methods: Our study aimed to investigate BRAF mutations in 30 human bladder tumors and their adjacent normal tissues. The V600E mutation was screened by PCR/RFLP and exons 11, 14 and 15 of BRAF including intron-exon boundaries were sequenced.Results: We detected two tumor specimens bearing two different mutations, both of which were found in exon 15. One sample showed the T1799A (V600E) and the other the G1798T (V600L) mutation. The first specimen was stage pT1a and grade II, whereas the second was stage pT2b and grade III. No mutations within the coding region of exons 11, 14, 15 and the intron-exon junctions for the remaining samples were found.Conclusions: Our results suggest that involvement of BRAF mutations in the development of transitional cell carcinoma of the bladder is infrequent. (Int J Biol Markers 2009; 24: 17-21)