• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous (PubMed=36818284).
  
• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Asn1229Metfs*11 (c.3683delC); Zygosity=Heterozygous; Note=Germline (PubMed=17876295).
  

PubMed=14762442; DOI=10.1038/sj.onc.1207068
Li Y.-W., Rao P.K., Wen R., Song Y., Muir D.F. 4th, Wallace M.R., van Horne S.J., Tennekoon G.I., Kadesch T.
Notch and Schwann cell transformation.
Oncogene 23:1146-1152(2004)

PubMed=17876295; DOI=10.1038/labinvest.3700675
Perrin G.Q., Li H., Fishbein L., Thomson S.A., Hwang M.S., Scarborough M.T., Yachnis A.T., Wallace M.R., Mareci T.H., Muir D.F. 4th
An orthotopic xenograft model of intraneural NF1 MPNST suggests a potential association between steroid hormones and tumor cell proliferation.
Lab. Invest. 87:1092-1102(2007)

PubMed=22346343; DOI=10.4137/TOG.S8830; PMCID=PMC3273949
Sun D., Tainsky M.A., Haddad R.
Oncogene mutation survey in MPNST cell lines enhances the dominant role of hyperactive Ras in NF1 associated pro-survival and malignancy.
Transl. Oncogenomics 5:1-7(2012)

PubMed=28469964; PMCID=PMC5411799
Guo J.-M., Grovola M.R., Xie H., Coggins G.E., Duggan P., Hasan R., Huang J.-L., Lin D.W., Song C., Witek G.M., Berritt S., Schultz D.C., Field J.
Comprehensive pharmacological profiling of neurofibromatosis cell lines.
Am. J. Cancer Res. 7:923-934(2017)

PubMed=32076030; DOI=10.1038/s41598-020-59789-4; PMCID=PMC7031337
Amirnasr A., Verdijk R.M., van Kuijk P.F., Kartal P., Vriends A.L.M., French P.J., van Royen M.E., Taal W., Sleijfer S., Wiemer E.A.C.
Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheath tumors.
Sci. Rep. 10:2927.1-2927.14(2020)

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)