Sci Rep:磨玻璃样结节性肺腺癌的基因组改变

2018-05-19 xiangting MedSci原创

EGFR、IDH2、TP53、PTEN、EPHB4和BRAF被推定为磨玻璃样结节性肺腺癌的驱动突变。

磨玻璃样结节性肺腺癌的深入分子发病机制尚不清楚。这项研究的目的是确定磨玻璃样结节性肺腺癌的基因组改变,并调查在这些肿瘤中是否可以检测到病毒转录物。

纳入9名纯实性(n=4)和部分实性(n=5)磨玻璃样结节性腺癌患者。其中6名为女性,中位年龄为58岁。研究人员进行了有针对性的外显子测序和RNA测序。通过有针对性的外显子测序发现EGFR(n=10)、IDH2(n=2)、TP53(n=1)、PTEN(n=1)、EPHB4(n=1)和BRAF(n=1)为驱动突变。与正常组织比较,包括NOTCH4和TGFBR3表达在内的血管生成相关基因在腺癌组织中显著下调(NOTCH4和TGFBR3的调整P值均<0.001)。另外,在4例肺腺癌中发现了5个新的融合基因座。然而,在肿瘤中未检测到显著的病毒相关转录物。

总之,EGFR、IDH2、TP53、PTEN、EPHB4和BRAF被推定为磨玻璃样结节性肺腺癌的驱动突变。4个肿瘤中发现了5种新的融合基因。病毒似乎不涉及磨玻璃样结节性肺腺癌的肿瘤生成。

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