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DOI 10.1101/2025.05.19.654661

Медицинская библиотека · bioRxiv : the preprint server for biology · 2025

In vivo CRISPR screening identifies NF1/RASA1/TP53 co-mutations and downstream MEK signaling as a common key mechanism of sinonasal tumorigenesis.

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

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Аннотация

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.

Для цитирования: Vu Kenny, Gunti Sreenivasulu, Viswanathan Ramya, Nandal Anjali, Larkin Riley, Cho Sungwoo, Zou Jonathan, Ramolia Shivani, Hoke Austin T K, Barbosa Siani M, Gallia Gary L, Rooper Lisa M, Floudas Charalampos S, Cheng Hui, Miller Christine N, Guest Mary R, Notaro Marco, Raziuddin Arati, Sun Zhonghe, Wu Xiaolin, Faraji Farhoud, Lechner Matt, Comoglio Federico, Edmondson Elijah F, Chari Raj, London Nyall R. In vivo CRISPR screening identifies NF1/RASA1/TP53 co-mutations and downstream MEK signaling as a common key mechanism of sinonasal tumorigenesis.. bioRxiv : the preprint server for biology. 2025. DOI: 10.1101/2025.05.19.654661.
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