ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis
CM Hoeman, FJ Cordero, G Hu, K Misuraca… - Nature …, 2019 - nature.com
Diffuse intrinsic pontine glioma (DIPG) is an incurable pediatric brain tumor, with
approximately 25% of DIPGs harboring activating ACVR1 mutations that commonly co-
associate with H3. 1K27M mutations. Here we show that in vitro expression of ACVR1
R206H with and without H3. 1K27M upregulates mesenchymal markers and activates Stat3
signaling. In vivo expression of ACVR1 R206H or G328V with H3. 1K27M and p53 deletion
induces glioma-like lesions but is not sufficient for full gliomagenesis. However, in …
approximately 25% of DIPGs harboring activating ACVR1 mutations that commonly co-
associate with H3. 1K27M mutations. Here we show that in vitro expression of ACVR1
R206H with and without H3. 1K27M upregulates mesenchymal markers and activates Stat3
signaling. In vivo expression of ACVR1 R206H or G328V with H3. 1K27M and p53 deletion
induces glioma-like lesions but is not sufficient for full gliomagenesis. However, in …
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