体内CRISPR筛选发现NF1/RASA1/TP53共突变和下游MEK信号是鼻部肿瘤发生的共同关键机制。

Kenny Vu, Sreenivasulu Gunti, Ramya Viswanathan, Anjali Nandal, Riley Larkin, Sungwoo Cho, Jonathan Zou, Shivani Ramolia, Austin T K Hoke, Siani M Barbosa, Gary L Gallia, Lisa M Rooper, Charalampos S Floudas, Hui Cheng, Christine N Miller, Mary R Guest, Marco Notaro, Arati Raziuddin, Zhonghe Sun, Xiaolin Wu, Farhoud Faraji, Matt Lechner, Federico Comoglio, Elijah F Edmondson, Raj Chari, Nyall R London
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引用次数: 0

摘要

鼻窦恶性肿瘤中驱动肿瘤发生的基因组改变在很大程度上仍未被探索。在这里,我们使用由腺相关病毒载体传递到鼻腔的合集定制单导文库进行体内功能丧失筛查,以识别不同鼻窦恶性肿瘤的癌症驱动基因。该方法检查出不同组织学的鼻窦恶性肿瘤,包括鼻窦鳞状细胞癌、腺癌、低分化鼻窦癌和具有嗅神经母细胞瘤特征的鼻窦神经内分泌肿瘤。令人惊讶的是,在不同组织学的恶性肿瘤中,Nf1(79%)、Rasa1(74%)和Trp53(68%)中发现了常见的复发突变,而不是在鼻窦肿瘤亚型中观察到不同的sgRNA谱。利用正交法,我们证实了鼻窦肿瘤发生需要Nf1/Trp53。考虑到NF1和RASA1的功能丧失可能导致Ras活性和下游MEK信号通路的增加,我们测试了鼻腔恶性肿瘤中Ras - mapk通路的小分子靶向。事实上,在标准体外培养和类器官模型中,来自我们的功能丧失方法的肿瘤细胞系以及来自人鼻窦恶性肿瘤的肿瘤细胞系都对MEK抑制表现出显著的敏感性。这些发现表明NF1和rasa1介导的Ras- gap活性的缺失导致Ras激活和下游MEK信号传导,这是主要鼻窦肿瘤亚型的潜在共同靶点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
In vivo CRISPR screening identifies NF1/RASA1/TP53 co-mutations and downstream MEK signaling as a common key mechanism of sinonasal tumorigenesis.

Genomic alterations driving tumorigenesis in sinonasal malignancies remain largely unexplored. Here, we perform an in vivo loss-of-function screen using a pooled custom single-guide library delivered to the sinonasal cavity by adeno-associated virus vector to identify cancer driver genes across diverse sinonasal malignancies. This approach yielded sinonasal malignancies with diverse histologies, including sinonasal squamous cell carcinoma, adenocarcinoma, poorly differentiated sinonasal carcinoma, and sinonasal neuroendocrine tumors characteristic of olfactory neuroblastoma. Surprisingly, rather than observing distinct sgRNA profiles across sinonasal tumor subtypes, common recurrent mutations were identified in Nf1 (79%), Rasa1 (74%), and Trp53 (68%) across malignancies with distinct histologies. Utilizing an orthogonal approach, we confirmed that Nf1/Trp53 were required for sinonasal tumorigenesis. Given that loss-of-function in NF1 and RASA1 may lead to increased Ras activity and downstream MEK signaling, we tested small molecule targeting of the RAS-MAPK pathway in sinonasal malignancies. Indeed, both tumor cell lines derived from our loss-of-function approach as well as from human sinonasal malignancies displayed significant sensitivity to MEK inhibition in standard in vitro culture and organoid models. These findings demonstrate that loss of NF1 and RASA1-mediated Ras-GAP activity leads to Ras activation and downstream MEK signaling which is a potential common target throughout major sinonasal tumor subtypes.

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