[PDF][PDF] H3. 3-K27M drives neural stem cell-specific gliomagenesis in a human iPSC-derived model

D Haag, N Mack, PBG da Silva, B Statz, J Clark… - Cancer cell, 2021 - cell.com
D Haag, N Mack, PBG da Silva, B Statz, J Clark, K Tanabe, T Sharma, N Jäger, DTW Jones
Cancer cell, 2021cell.com
Diffuse intrinsic pontine glioma (DIPG) is an aggressive childhood tumor of the brainstem
with currently no curative treatment available. The vast majority of DIPGs carry a histone H3
mutation leading to a lysine 27-to-methionine exchange (H3K27M). We engineered human
induced pluripotent stem cells (iPSCs) to carry an inducible H3. 3-K27M allele in the
endogenous locus and studied the effects of the mutation in different disease-relevant
neural cell types. H3. 3-K27M upregulated bivalent promoter-associated developmental …
Summary
Diffuse intrinsic pontine glioma (DIPG) is an aggressive childhood tumor of the brainstem with currently no curative treatment available. The vast majority of DIPGs carry a histone H3 mutation leading to a lysine 27-to-methionine exchange (H3K27M). We engineered human induced pluripotent stem cells (iPSCs) to carry an inducible H3.3-K27M allele in the endogenous locus and studied the effects of the mutation in different disease-relevant neural cell types. H3.3-K27M upregulated bivalent promoter-associated developmental genes, producing diverse outcomes in different cell types. While being fatal for iPSCs, H3.3-K27M increased proliferation in neural stem cells (NSCs) and to a lesser extent in oligodendrocyte progenitor cells (OPCs). Only NSCs gave rise to tumors upon induction of H3.3-K27M and TP53 inactivation in an orthotopic xenograft model recapitulating human DIPGs. In NSCs, H3.3-K27M leads to maintained expression of stemness and proliferative genes and a premature activation of OPC programs that together may cause tumor initiation.
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