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DOI 10.1126/science.1233009

Медицинская библиотека · Science (New York, N.Y.) · 2013

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Clark Victoria E, Erson-Omay E Zeynep, Serin Akdes, Yin Jun, Cotney Justin, Ozduman Koray, Avşar Timuçin, Li Jie, Murray Phillip B, Henegariu Octavian, Yilmaz Saliha, Günel Jennifer Moliterno, Carrión-Grant Geneive, Yilmaz Baran, Grady Conor, Tanrikulu Bahattin, Bakircioğlu Mehmet, Kaymakçalan Hande, Caglayan Ahmet Okay, Sencar Leman, Ceyhun Emre, Atik A Fatih, Bayri Yaşar, Bai Hanwen, Kolb Luis E, Hebert Ryan M, Omay S Bulent, Mishra-Gorur Ketu, Choi Murim, Overton John D, Holland Eric C, Mane Shrikant, State Matthew W, Bilgüvar Kaya, Baehring Joachim M, Gutin Philip H, Piepmeier Joseph M, Vortmeyer Alexander, Brennan Cameron W, Pamir M Necmettin, Kiliç Türker, Lifton Richard P, Noonan James P, Yasuno Katsuhito, Günel Murat

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcription factor known for its role in inducing pluripotency, or with AKT1(E17K), a mutation known to activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. These non-NF2 meningiomas were clinically distinctive-nearly always benign, with chromosomal stability, and originating from the medial skull base. In contrast, meningiomas with mutant NF2 and/or chromosome 22 loss were more likely to be atypical, showing genomic instability, and localizing to the cerebral and cerebellar hemispheres. Collectively, these findings identify distinct meningioma subtypes, suggesting avenues for targeted therapeutics.

Для цитирования: Clark Victoria E, Erson-Omay E Zeynep, Serin Akdes, Yin Jun, Cotney Justin, Ozduman Koray, Avşar Timuçin, Li Jie, Murray Phillip B, Henegariu Octavian, Yilmaz Saliha, Günel Jennifer Moliterno, Carrión-Grant Geneive, Yilmaz Baran, Grady Conor, Tanrikulu Bahattin, Bakircioğlu Mehmet, Kaymakçalan Hande, Caglayan Ahmet Okay, Sencar Leman, Ceyhun Emre, Atik A Fatih, Bayri Yaşar, Bai Hanwen, Kolb Luis E, Hebert Ryan M, Omay S Bulent, Mishra-Gorur Ketu, Choi Murim, Overton John D, Holland Eric C, Mane Shrikant, State Matthew W, Bilgüvar Kaya, Baehring Joachim M, Gutin Philip H, Piepmeier Joseph M, Vortmeyer Alexander, Brennan Cameron W, Pamir M Necmettin, Kiliç Türker, Lifton Richard P, Noonan James P, Yasuno Katsuhito, Günel Murat. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.. Science (New York, N.Y.). 2013. DOI: 10.1126/science.1233009.

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