9月9日，國(guó)際著名雜志Nature在線(xiàn)發(fā)表了一篇題為Comprehensive genomic characterization of squamous cell lung cancers（肺鱗癌全基因組的特征描述）的研究論文,，報(bào)道了一個(gè)潛在的肺鱗癌治療靶點(diǎn),。
肺鱗癌（Lung squamous cell carcinoma）是一種常見(jiàn)的肺癌類(lèi)型，全世界每年約40萬(wàn)人死于肺鱗癌,。然而,，至今沒(méi)有特異性的分子靶標(biāo)藥物用于治療肺鱗癌。
從事癌癥基因組圖譜研究的科學(xué)家們分析了178個(gè)癌癥患者的基因組,，其中有171位患者,，即96%的患者基因組至少存在一個(gè)突變位點(diǎn)?？茖W(xué)家們從中得到啟示,，肺鱗癌患者基因組應(yīng)該存在突變位點(diǎn)。
進(jìn)一步研究發(fā)現(xiàn)，幾乎所有的肺鱗癌患者都表現(xiàn)出體細(xì)胞TP53突變,。在CDKN2A/RB1 ,， NFE2L2/KEAP1/CUL3， PI3K/AKT和SOX2/TP63/NOTCH1等信號(hào)通路中也出現(xiàn)頻繁改變,，這些改變?yōu)榧?xì)胞周期調(diào)控,、氧化應(yīng)激反應(yīng)、凋亡信號(hào)和鱗狀細(xì)胞分化等的異常提供了證據(jù),。
本論文確立了一個(gè)潛在的用于治療肺鱗癌的分子靶標(biāo),，使肺鱗癌的個(gè)性化治療變得可能。(生物谷Bioon.com)
doi:10.1038/nature11404
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PMID:
Comprehensive genomic characterization of squamous cell lung cancers
The Cancer Genome Atlas Research Network
Lung squamous cell carcinoma is a common type of lung cancer,， causing approximately 400,，000 deaths per year worldwide. Genomic alterations in squamous cell lung cancers have not been comprehensively characterized， and no molecularly targeted agents have been specifically developed for its treatment. As part of The Cancer Genome Atlas,， here we profile 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations. We show that the tumour type is characterized by complex genomic alterations,， with a mean of 360 exonic mutations， 165 genomic rearrangements,， and 323 segments of copy number alteration per tumour. We find statistically recurrent mutations in 11 genes,， including mutation of TP53 in nearly all specimens. Previously unreported loss-of-function mutations are seen in the HLA-A class I major histocompatibility gene. Significantly altered pathways included NFE2L2 and KEAP1 in 34%， squamous differentiation genes in 44%,， phosphatidylinositol-3-OH kinase pathway genes in 47%,， and CDKN2A and RB1 in 72% of tumours. We identified a potential therapeutic target in most tumours， offering new avenues of investigation for the treatment of squamous cell lung cancers.
