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腾讯登录Nature Genet：基因组扫描发现小细胞肺癌中SOX2基因突变
| 导读 | 近日，科学家们已经完成了一种致命肺癌类型全面基因突变扫描。约翰霍普金斯大学Kimmel癌症中心科学家发现一个名为SOX2的早期胚胎发育相关基因在小细胞肺癌中发生了突变。
约翰霍普金斯大学Kimmel癌症中心肿瘤学教授Charles Rudin医学博士说：小细胞肺癌被诊断发现时，大部分患者基本都处于晚期，癌细胞已经扩散，诊断后患者存活的时间不足一年。科学家们发现，在小细胞肺癌样本中，SOX2基... |
近日，科学家们已经完成了一种致命肺癌类型全面基因突变扫描。约翰霍普金斯大学Kimmel癌症中心科学家发现一个名为SOX2的早期胚胎发育相关基因在小细胞肺癌中发生了突变。
约翰霍普金斯大学Kimmel癌症中心肿瘤学教授Charles Rudin医学博士说：小细胞肺癌被诊断发现时，大部分患者基本都处于晚期，癌细胞已经扩散，诊断后患者存活的时间不足一年。科学家们发现，在小细胞肺癌样本中，SOX2基因的拷贝数增加了约27％。由SOX2基因编码产生的过剩蛋白质可能在促进和维持肺细胞的异常生长中发挥作用。
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SOX2或许是科学家们开发新的靶向药物来对付这种棘手类型癌症的一大潜在靶点。在这项发表在<em>Nature Genetics</em>杂志上的研究中，约翰霍普金斯大学与美国德州大学西南医学中心和美国科罗拉多大学癌症中心的工作人员扫描63例非小细胞肺癌患者的基因组编码区。他们发现基因SOX2在约27％的检测样品（56个样本中有15个）是扩增的。
SOX2编码能结合DNA的蛋白质复合体，并控制基因何时以及如何被解码以生成其他蛋白质。SOX2与胚胎干细胞的组织和器官发育相关。在一组110例小细胞肺癌中，科学家们证实SOX2确实是表达增加的。他们发现，SOX2蛋白过量导致细胞过度生长引发癌症。这项基因组学研究可能有助于确定哪些遗传基因途径在这种疾病的发病中发挥作用，并给研究人员开发新的治疗药物带来新思路。
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<img src="http://www.bioon.com/biology/UploadFiles/201209/2012090614454583.gif" alt="" width="115" height="150" border="0" />
<a title="" href="http://dx.doi.org/10.1038/ng.2405" target="_blank">doi:10.1038/ng.2405</a>
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<br/><strong>Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer</strong><br/>
Charles M Rudin,Steffen Durinck,Eric W Stawiski,John T Poirier,Zora Modrusan,David S Shames,Emily A Bergbower,et al.
Small-cell lung cancer (SCLC) is an exceptionally aggressive disease with poor prognosis. Here, we obtained exome, transcriptome and copy-number alteration data from approximately 53 samples consisting of 36 primary human SCLC and normal tissue pairs and 17 matched SCLC and lymphoblastoid cell lines. We also obtained data for 4 primary tumors and 23 SCLC cell lines. We identified 22 significantly mutated genes in SCLC, including genes encoding kinases, G protein–coupled receptors and chromatin-modifying proteins. We found that several members of the SOX family of genes were mutated in SCLC. We also found SOX2 amplification in ~27% of the samples. Suppression of SOX2 using shRNAs blocked proliferation of SOX2-amplified SCLC lines. RNA sequencing identified multiple fusion transcripts and a recurrent RLF-MYCL1 fusion. Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation. These data provide an in-depth view of the spectrum of genomic alterations in SCLC and identify several potential targets for therapeutic intervention.
<br/>来源：生物谷
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约翰霍普金斯大学Kimmel癌症中心肿瘤学教授Charles Rudin医学博士说：小细胞肺癌被诊断发现时，大部分患者基本都处于晚期，癌细胞已经扩散，诊断后患者存活的时间不足一年。科学家们发现，在小细胞肺癌样本中，SOX2基因的拷贝数增加了约27％。由SOX2基因编码产生的过剩蛋白质可能在促进和维持肺细胞的异常生长中发挥作用。
<!--more-->
SOX2或许是科学家们开发新的靶向药物来对付这种棘手类型癌症的一大潜在靶点。在这项发表在<em>Nature Genetics</em>杂志上的研究中，约翰霍普金斯大学与美国德州大学西南医学中心和美国科罗拉多大学癌症中心的工作人员扫描63例非小细胞肺癌患者的基因组编码区。他们发现基因SOX2在约27％的检测样品（56个样本中有15个）是扩增的。
SOX2编码能结合DNA的蛋白质复合体，并控制基因何时以及如何被解码以生成其他蛋白质。SOX2与胚胎干细胞的组织和器官发育相关。在一组110例小细胞肺癌中，科学家们证实SOX2确实是表达增加的。他们发现，SOX2蛋白过量导致细胞过度生长引发癌症。这项基因组学研究可能有助于确定哪些遗传基因途径在这种疾病的发病中发挥作用，并给研究人员开发新的治疗药物带来新思路。
<div id="ztload">
<div>
<div>
<img src="http://www.bioon.com/biology/UploadFiles/201209/2012090614454583.gif" alt="" width="115" height="150" border="0" />
<a title="" href="http://dx.doi.org/10.1038/ng.2405" target="_blank">doi:10.1038/ng.2405</a>
PMC:
PMID:
</div>
<div>
<br/><strong>Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer</strong><br/>
Charles M Rudin,Steffen Durinck,Eric W Stawiski,John T Poirier,Zora Modrusan,David S Shames,Emily A Bergbower,et al.
Small-cell lung cancer (SCLC) is an exceptionally aggressive disease with poor prognosis. Here, we obtained exome, transcriptome and copy-number alteration data from approximately 53 samples consisting of 36 primary human SCLC and normal tissue pairs and 17 matched SCLC and lymphoblastoid cell lines. We also obtained data for 4 primary tumors and 23 SCLC cell lines. We identified 22 significantly mutated genes in SCLC, including genes encoding kinases, G protein–coupled receptors and chromatin-modifying proteins. We found that several members of the SOX family of genes were mutated in SCLC. We also found SOX2 amplification in ~27% of the samples. Suppression of SOX2 using shRNAs blocked proliferation of SOX2-amplified SCLC lines. RNA sequencing identified multiple fusion transcripts and a recurrent RLF-MYCL1 fusion. Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation. These data provide an in-depth view of the spectrum of genomic alterations in SCLC and identify several potential targets for therapeutic intervention.
<br/>来源：生物谷
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</div>
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