• Mutation; HGNC; HGNC:4764; H3-3A; Simple; p.Lys28Met (c.83A>T) (H3.3K27M); ClinVar=VCV000376435; Zygosity=Unspecified (PubMed=25939062; PubMed=34732238).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Lys132Arg (c.395A>G); ClinVar=VCV000376625; Zygosity=Unspecified (PubMed=34732238).
  

PubMed=25939062; DOI=10.1038/nm.3855; PMCID=PMC4862411
Grasso C.S., Tang Y.-J., Truffaux N., Berlow N.E., Liu L.-N., Debily M.-A., Quist M.J., Davis L.E., Huang E.C., Woo P.J., Ponnuswami A., Chen S., Johung T.B., Sun W.-C., Kogiso M., Du Y.-C., Qi L., Huang Y.-L., Hutt-Cabezas M., Warren K.E., Le Dret L., Meltzer P.S., Mao H., Quezado M., van Vuurden D.G., Abraham J., Fouladi M., Svalina M.N., Wang N., Hawkins C., Nazarian J., Alonso M.M., Raabe E.H., Hulleman E., Spellman P.T., Li X.-N., Keller C., Pal R., Grill J., Monje M.
Functionally defined therapeutic targets in diffuse intrinsic pontine glioma.
Nat. Med. 21:555-559(2015)

PubMed=26115193; DOI=10.1097/NEN.0000000000000216; PMCID=PMC4596247
Taylor I.C., Hutt-Cabezas M., Brandt W.D., Kambhampati M., Nazarian J., Chang H.T., Warren K.E., Eberhart C.G., Raabe E.H.
Disrupting NOTCH slows diffuse intrinsic pontine glioma growth, enhances radiation sensitivity, and shows combinatorial efficacy with bromodomain inhibition.
J. Neuropathol. Exp. Neurol. 74:778-790(2015)

PubMed=28823557; DOI=10.1016/j.cell.2017.07.016; PMCID=PMC5587159
Qin E.Y., Cooper D.D., Abbott K.L., Lennon J., Nagaraja S., Mackay A., Jones C., Vogel H., Jackson P.K., Monje M.
Neural precursor-derived pleiotrophin mediates subventricular zone invasion by glioma.
Cell 170:845-859.e19(2017)

PubMed=31439867; DOI=10.1038/s41467-019-11732-6; PMCID=PMC6706443
Fons N.R., Sundaram R.K., Breuer G.A., Peng S., McLean R.L., Kalathil A.N., Schmidt M.S., Carvalho D.M., Mackay A., Jones C., Carcaboso A.M., Nazarian J., Berens M.E., Brenner C., Bindra R.S.
PPM1D mutations silence NAPRT gene expression and confer NAMPT inhibitor sensitivity in glioma.
Nat. Commun. 10:3790.1-3790.10(2019)

PubMed=33319914; DOI=10.1093/gigascience/giaa136; PMCID=PMC7736793
Sanders L.M., Cheney A., Seninge L., van den Bout A., Chen M., Beale H.C., Kephart E.T., Pfeil J., Learned K., Lyle A.G., Bjork I., Haussler D., Salama S.R., Vaske O.M.
Identification of a differentiation stall in epithelial mesenchymal transition in histone H3-mutant diffuse midline glioma.
GigaScience 9:giaa136.1-giaa136.14(2020)

PubMed=34078608; DOI=10.1126/sciadv.abg4126; PMCID=PMC10166578
Wang J., Huang T.Y.-T., Hou Y., Bartom E.T., Lu X.-Y., Shilatifard A., Yue F., Saratsis A.M.
Epigenomic landscape and 3D genome structure in pediatric high-grade glioma.
Sci. Adv. 7:eabg4126.1-eabg4126.16(2021)

PubMed=34215733; DOI=10.1038/s41467-021-24168-8; PMCID=PMC8253809
He C., Xu K., Zhu X.-Y., Dunphy P.S., Gudenas B., Lin W.-W., Twarog N., Hover L.D., Kwon C.-H., Kasper L.H., Zhang J.-Y., Li X.-Y., Dalton J., Jonchere B., Mercer K.S., Currier D.G., Caufield W., Wang Y.-Z., Xie J., Broniscer A., Wetmore C., Upadhyaya S.A., Qaddoumi I., Klimo P., Boop F.A., Gajjar A., Zhang J.-H., Orr B.A., Robinson G.W., Monje M., Freeman B.B. 3rd, Roussel M.F., Northcott P.A., Chen T.-S., Rankovic Z., Wu G., Chiang J.C.-H., Tinkle C.L., Shelat A.A., Baker S.J.
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
Nat. Commun. 12:4089.1-4089.17(2021)

PubMed=34732238; DOI=10.1186/s40478-021-01270-y; PMCID=PMC8565061
Xu C., Liu H., Pirozzi C.J., Chen L.H., Greer P.K., Diplas B.H., Zhang L.-W., Waitkus M.S., He Y.-P., Yan H.
TP53 wild-type/PPM1D mutant diffuse intrinsic pontine gliomas are sensitive to a MDM2 antagonist.
Acta Neuropathol. Commun. 9:178.1-178.12(2021)