• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Heterozygous; Note=By translocation (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Heterozygous (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous (PubMed=15207265; PubMed=36818284).
  
• Gene deletion; HGNC; HGNC:11998; TP53; Zygosity=Heterozygous (PubMed=15207265).
  
• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Tyr2285Ter (c.6855C>A) (p.Tyr2264Ter, c.6792C>A); ClinVar=VCV000185082; Zygosity=Heterozygous; Note=Germline (PubMed=15207265; PubMed=36818284; DepMap=ACH-002693).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg110Pro (c.329G>C); ClinVar=VCV000233627; Zygosity=Heterozygous (PubMed=21084276; DepMap=ACH-002693).
  

PubMed=15207265; DOI=10.1016/j.nbd.2004.01.006
Frahm S., Mautner V.-F., Brems H., Legius E., Debiec-Rychter M., Friedrich R.E., Knoefel W.T., Peiper M., Kluwe L.
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients.
Neurobiol. Dis. 16:85-91(2004)

PubMed=15735744; DOI=10.1038/sj.onc.1208425
Mashour G.A., Drissel S.N., Frahm S., Farassati F., Martuza R.L., Mautner V.-F., Kindler-Rohrborn A., Kurtz A.
Differential modulation of malignant peripheral nerve sheath tumor growth by omega-3 and omega-6 fatty acids.
Oncogene 24:2367-2374(2005)

PubMed=18650488; DOI=10.1215/15228517-2008-053; PMCID=PMC2719009
Holtkamp N., Malzer E., Zietsch J., Okuducu A.F., Mucha J., Mawrin C., Mautner V.-F., Schildhaus H.-U., von Deimling A.
EGFR and erbB2 in malignant peripheral nerve sheath tumors and implications for targeted therapy.
Neuro-oncol. 10:946-957(2008)

PubMed=21084276; DOI=10.1158/0008-5472.CAN-10-2799; PMCID=PMC3064267
Lopez G., Torres K.E., Liu J.J.-H., Hernandez B., Young E.D., Belousov R., Bolshakov S.V., Lazar A.J.F., Slopis J.M., McCutcheon I.E., McConkey D.J., Lev D.C.
Autophagic survival in resistance to histone deacetylase inhibitors: novel strategies to treat malignant peripheral nerve sheath tumors.
Cancer Res. 71:185-196(2011)

PubMed=21695156; DOI=10.1371/journal.pone.0021099; PMCID=PMC3113907
Spyra M., Kluwe L., Hagel C., Nguyen R., Panse J., Kurtz A., Mautner V.-F., Rabkin S.D., Demestre M.
Cancer stem cell-like cells derived from malignant peripheral nerve sheath tumors.
PLoS ONE 6:e21099.1-e21099.9(2011)

PubMed=23437333; DOI=10.1371/journal.pone.0057152; PMCID=PMC3578816
Reuss D.E., Mucha J., Hagenlocher C., Ehemann V., Kluwe L., Mautner V.-F., von Deimling A.
Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.
PLoS ONE 8:e57152.1-e57152.10(2013)

PubMed=28556483; DOI=10.1002/1878-0261.12086; PMCID=PMC5579334
Kolberg M., Bruun J., Murumagi A., Mpindi J.P., Bergsland C.H., Holand M., Eilertsen I.A., Danielsen S.A., Kallioniemi O.-P., Lothe R.A.
Drug sensitivity and resistance testing identifies PLK1 inhibitors and gemcitabine as potent drugs for malignant peripheral nerve sheath tumors.
Mol. Oncol. 11:1156-1171(2017)

PubMed=32642732; DOI=10.1093/noajnl/vdz049; PMCID=PMC7317054
Pemov A., Li H., Presley W., Wallace M.R., Miller D.T.
Genetics of human malignant peripheral nerve sheath tumors.
Neurooncol. Adv. 2:i50-i61(2020)

PubMed=34059954; DOI=10.1007/s00439-021-02296-x
Magallon-Lorenz M., Fernandez-Rodriguez J., Terribas E., Creus-Bachiller E., Romagosa C., Estival A., Perez Sidelnikova D., Salvador H., Villanueva A., Blanco I., Carrio M., Lazaro C., Serra E., Gel B.
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.
Hum. Genet. 140:1241-1252(2021)

PubMed=36818284; DOI=10.1016/j.isci.2023.106096; PMCID=PMC9929861
Magallon-Lorenz M., Terribas E., Ortega-Bertran S., Creus-Bachiller E., Fernandez M., Requena G., Rosas I., Mazuelas H., Uriarte-Arrazola I., Negro A., Lausova T., Castellanos E., Blanco I., DeVries G.H., Kawashima H., Legius E., Brems H., Mautner V.-F., Kluwe L., Ratner N., Wallace M.R., Fernandez-Rodriguez J., Lazaro C., Fletcher J.A., Reuss D.E., Carrio M., Gel B., Serra E.
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
iScience 26:106096.1-106096.22(2023)

PubMed=37798904; DOI=10.1002/1878-0261.13534; PMCID=PMC10994238
Creus-Bachiller E., Fernandez-Rodriguez J., Magallon-Lorenz M., Ortega-Bertran S., Navas-Rutete S., Romagosa C., Silva T.M., Pane Foix M., Estival A., Perez Sidelnikova D., Morell Ginesta M., Mazuelas H., Carrio M., Lausova T., Reuss D.E., Gel B., Villanueva A., Serra E., Lazaro C.
Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: new patient-derived orthotopic xenografts, cell lines and tumor entities.
Mol. Oncol. 18:895-917(2024)