Therefore

pmid:

胸腺瘤是一种胸腺上皮细胞畸变引发的癌症,胸腺对于淋巴系统非常重要,而t细胞(t杀伤细胞)就在胸腺中成熟,目前研究者并不清楚在人类肿瘤中基因gtf2l突变所扮演的角色,但是这项研究中研究者却发现,几乎所有的无痛(非恶性及缓慢发展的肿瘤)形式的胸腺瘤都存在基因gtf2l的突变

pmc:

2014年7月3日 讯 /生物谷bioon/ --近日,刊登在国际杂志nature genetics上的一篇研究论文中,来自美国国家癌症研究所的研究人员通过研究发现,一种单一基因就可以有效区分出恶性胸腺瘤和非恶性胸腺瘤

we analyzed 28 thymic epithelial tumors (tets) using next-gene恶性胸腺瘤的治疗ration sequencing and identified a missense mutation (chromosome 7 c.t>a) in gtf2i at high frequency in type a thymomas, a relatively indolent subtype. in a series of 274 tets, we detected the gtf2i mutation in 82% of type a and 74% of type ab thymomas but rarely in the aggressive subtypes, where recurrent mutatio胸腺瘤症状有哪些ns of known cancer genes have been identified. therefore, gtf2i mutation correlated with better survival. gtf2i β and δ isoforms were expressed in tets, and both mutant isoforms were able to stimulate cell proliferation in vitro. thymic carcinomas carried a higher number of mutations than thymomas (ave胸腺瘤手术后遗症rage of 43.5 and 18.4, respectively). notably, we identified recurrent mutations of known cancer genes, including tp53, cyld, cdkn2a, bap1 and pbrm1, in thymic carcinomas. these findings will complement the diagnostic assessment of these tumors and also facilitate development of a molecular classification and a胸腺瘤有什么症状ssessment of prognosis and treatment strategies.

据美国国家癌症研究所数据显示,胸腺癌在所有癌症中所占比例为0.2%至1.5%,大约每70万人中就有1人发病“目前大部分确诊胸腺癌的患者都会进行手术治疗,但是这只是基于前期对胸腺瘤严重程度的推测,有些病人往往可以利用放疗或者化疗来代替手术进行治疗目前针对胸腺瘤的许多治疗方法存在一定的争议,但是有些病人的确不需要及时治疗,而且目前研究者并不能对患者的肿瘤程度进行准确判断“研究者giaccone说道(生物谷bioon.com)

doi:10.1038/ng.3016

a specific missense mutation in gtf2i occurb2型胸腺瘤治疗s at high frequency in thymic epithelial tumors

iacopo petrini, paul s meltzer, in-kyu kim, marco lucchi, kang-seo park, gabriella fontanini, james gao, paolo a zucali, fiorella calabrese, adolfo favaretto, federico rea, jaime rodriguez-canales, robert l walker, marbin pineda, yuelin j zhu, christoph胸腺瘤能治愈吗er lau, keith j killian, sven bilke, donna voeller, sivanesan dakshanamurthy, yisong wang & giuseppe giaccone

研究者giuseppe giaccone博士表示,无痛的胸腺瘤很少会变成恶性的,因此基因gtf2l的鉴别就可以帮助有效发现需要进行及时治疗的恶性胸腺瘤患者这项研究非常关键,因为其可以通过一个单一突变的基因来定义肿瘤的类型,通常对肿瘤进行分类定义往往需要许多基因才可以实现;实际上研究者发现恶性的胸腺瘤往往会表达一些在其它肿瘤中发现的癌症基因,这就为开发新型疗法来治疗癌症提供了一定的线索胸腺瘤术后恢复

关键词:基因,胸腺癌,良性,gtf2l

信息来源:生物谷

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