• Mutation; HGNC; HGNC:4764; H3-3A; Simple; p.Lys28Met (c.83A>T) (H3.3K27M); ClinVar=VCV000376435; Zygosity=Unspecified (PubMed=23603901; PubMed=34732238).
  
• Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Glu540Ter (c.1618G>T); Zygosity=Unspecified (PubMed=32229503; PubMed=34732238).
  

PubMed=22983601; DOI=10.1007/s11060-012-0973-6
Hashizume R., Smirnov I., Liu S., Phillips J.J., Hyer J.D., McKnight T.R., Wendland M., Prados M.D., Banerjee A., Nicolaides T., Mueller S., James C.D., Gupta N.
Characterization of a diffuse intrinsic pontine glioma cell line: implications for future investigations and treatment.
J. Neurooncol. 110:305-313(2012)

PubMed=23603901; DOI=10.1101/gad.217778.113; PMCID=PMC3656328
Chan K.-M., Fang D., Gan H.-Y., Hashizume R., Yu C.-H., Schroeder M., Gupta N., Mueller S., James C.D., Jenkins R.B., Sarkaria J., Zhang Z.-G.
The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression.
Genes Dev. 27:985-990(2013)

PubMed=25401693; DOI=10.1038/nm.3716; PMCID=PMC4257862
Hashizume R., Andor N., Ihara Y., Lerner R., Gan H.-Y., Chen X.-Y., Fang D., Huang X., Tom M.W., Ngo V., Solomon D.A., Mueller S., Paris P.L., Zhang Z.-G., Petritsch C.K., Gupta N., Waldman T.A., James C.D.
Pharmacologic inhibition of histone demethylation as a therapy for pediatric brainstem glioma.
Nat. Med. 20:1394-1396(2014)

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=32229503; DOI=10.1158/1541-7786.MCR-19-0507
Wang Z.-H., Xu C., Diplas B.H., Moure C.J., Chen C.-P.J., Chen L.H., Du C.-Z., Zhu H.-S., Greer P.K., Zhang L.-W., He Y.-P., Waitkus M.S., Yan H.
Targeting mutant PPM1D sensitizes diffuse intrinsic pontine glioma cells to the PARP inhibitor olaparib.
Mol. Cancer Res. 18:968-980(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=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)