Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
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DOI：
10.1038/ncomms4518
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发表时间：
2014-03-27
影响因子：
16.6
通讯作者：
Thomas, Roman K.
中科院分区：
文献类型：
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作者：
Fernandez-Cuesta, Lynnette;Peifer, Martin;Lu, Xin;Sun, Ruping;Ozretic, Luka;Seidel, Danila;Zander, Thomas;Leenders, Frauke;George, Julie;Mueller, Christian;Dahmen, Ilona;Pinther, Berit;Bosco, Graziella;Konrad, Kathryn;Altmueller, Janine;Nuernberg, Peter;Achter, Viktor;Lang, Ulrich;Schneider, Peter M.;Bogus, Magdalena;Soltermann, Alex;Brustugun, Odd Terje;Helland, Aslaug;Solberg, Steinar;Lund-Iversen, Marius;Ansen, Sascha;Stoelben, Erich;Wright, Gavin M.;Russell, Prudence;Wainer, Zoe;Solomon, Benjamin;Field, John K.;Hyde, Russell;Davies, Michael P. A.;Heukamp, Lukas C.;Petersen, Iver;Perner, Sven;Lovly, Christine M.;Cappuzzo, Federico;Travis, William D.;Wolf, Juergen;Vingron, Martin;Brambilla, Elisabeth;Haas, Stefan A.;Buettner, Reinhard;Thomas, Roman K.
肺类癌是一种罕见的肺神经内分泌肿瘤。到目前为止，这些肿瘤发病机制的分子变化还没有得到系统的研究。在这里，我们进行了肺类癌的基因拷贝数分析(n=54)、基因组/外显子组(n=44)和转录组(n=69)测序，并观察到染色质重塑基因的频繁突变。SWI/SNF复合体的共价组蛋白修饰物和亚单位分别有40%和22.2%发生突变，其中MEN1、PSIP1和ARID1A反复受累。与小细胞肺癌和大细胞神经内分泌肿瘤相比，TP53和RB1突变是罕见的事件，提示肺类癌不是高侵袭性肺神经内分泌肿瘤的早期前体病变，而是通过独立的细胞机制发生的。这些数据还表明，染色质重塑基因的失活足以驱动类肺癌的转化。
Pulmonary carcinoids are rare neuroendocrine tumors of the lung. The molecular alterations underlying the pathogenesis of these tumors have not been systematically studied so far. Here we perform gene copy number analysis (n=54), genome/exome (n=44) and transcriptome (n=69) sequencing of pulmonary carcinoids and observe frequent mutations in chromatin-remodeling genes. Covalent histone modifiers and subunits of the SWI/SNF complex are mutated in 40% and 22.2% of the cases respectively, with MEN1, PSIP1 and ARID1A being recurrently affected. In contrast to small-cell lung cancer and large-cell neuroendocrine tumors, TP53 and RB1 mutations are rare events, suggesting that pulmonary carcinoids are not early progenitor lesions of the highly aggressive lung neuroendocrine tumors but arise through independent cellular mechanisms. These data also suggest that inactivation of chromatin remodeling genes is sufficient to drive transformation in pulmonary carcinoids.
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影响因子：
4
作者：
Tang, Jiong;Yoo, Andrew S.;Crabtree, Gerald R.
通讯作者：
Crabtree, Gerald R.
哺乳动物SWI/SNF复合物的蛋白质组学和生物信息学分析确定了在人类恶性肿瘤中的广泛作用。
影响因子：
30.8
作者：
Kadoch, Cigall;Hargreaves, Diana C.;Hodges, Courtney;Elias, Laura;Ho, Lena;Ranish, Jeff;Crabtree, Gerald R.
通讯作者：
Crabtree, Gerald R.
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
2.1
作者：
Olshen, AB;Venkatraman, ES;Wigler, M
通讯作者：
Wigler, M
影响因子：
64.8
作者：
通讯作者：
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