Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278(1):51–7.

Article  CAS  PubMed  Google Scholar 

Kallen ME, Hornick JL. The 2020 WHO classification: what’s new in soft tissue tumor pathology? Am J Surg Pathol. 2021;45(1):e1–23. https://doi.org/10.1097/pas.0000000000001552.

Article  PubMed  Google Scholar 

De Raedt T, Beert E, Pasmant E, Luscan A, Brems H, Ortonne N, et al. PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. Nature. 2014;514(7521):247–51. https://doi.org/10.1038/nature13561.

Article  CAS  PubMed  Google Scholar 

Lee W, Teckie S, Wiesner T, Ran L, Prieto Granada CN, Lin M, et al. PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46(11):1227–32. https://doi.org/10.1038/ng.3095.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang M, Wang Y, Jones S, Sausen M, McMahon K, Sharma R, et al. Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46(11):1170–2. https://doi.org/10.1038/ng.3116.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li W, Hu C, Zhang X, Wang B, Li Z, Ling M, et al. suz12 loss amplifies the Ras/ERK pathway by activating adenylate cyclase 1 in NF1-associated neurofibromas. Front Oncol. 2021;11:738300. https://doi.org/10.3389/fonc.2021.738300.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, et al. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol. 2009;217(5):693–701. https://doi.org/10.1002/path.2494.

Article  CAS  PubMed  Google Scholar 

Kaplan HG, Rostad S, Ross JS, Ali SM, Millis SZ. Genomic profiling in patients with malignant peripheral nerve sheath tumors reveals multiple pathways with targetable mutations. J Natl Compr Canc Netw. 2018;16(8):967–74. https://doi.org/10.6004/jnccn.2018.7033.

Article  CAS  PubMed  Google Scholar 

Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, et al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 2011;121(3):397–405. https://doi.org/10.1007/s00401-011-0802-6.

Article  CAS  PubMed  Google Scholar 

Je EM, An CH, Yoo NJ, Lee SH. Mutational analysis of PIK3CA, JAK2, BRAF, FOXL2, IDH1, AKT1 and EZH2 oncogenes in sarcomas. APMIS. 2012;120(8):635–9. https://doi.org/10.1111/j.1600-0463.2012.02878.x.

Article  CAS  PubMed  Google Scholar 

Holtkamp N, Malzer E, Zietsch J, Okuducu AF, Mucha J, Mawrin C, et al. EGFR and erbB2 in malignant peripheral nerve sheath tumors and implications for targeted therapy. Neuro Oncol. 2008;10(6):946–57. https://doi.org/10.1215/15228517-2008-053.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Perrone F, Da Riva L, Orsenigo M, Losa M, Jocollè G, Millefanti C, et al. PDGFRA, PDGFRB, EGFR, and downstream signaling activation in malignant peripheral nerve sheath tumor. Neuro Oncol. 2009;11(6):725–36. https://doi.org/10.1215/15228517-2009-003.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Peacock JD, Pridgeon MG, Tovar EA, Essenburg CJ, Bowman M, Madaj Z, et al. Genomic status of MET potentiates sensitivity to MET and MEK inhibition in NF1-related malignant peripheral nerve sheath tumors. Cancer Res. 2018;78(13):3672–87. https://doi.org/10.1158/0008-5472.Can-17-3167.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, et al. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res. 2008;14(4):1015–24. https://doi.org/10.1158/1078-0432.Ccr-07-1305.

Article  CAS  PubMed  Google Scholar 

Hirbe AC, Kaushal M, Sharma MK, Dahiya S, Pekmezci M, Perry A, et al. Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Cancer. 2017;123(7):1194–201. https://doi.org/10.1002/cncr.30455.

Article  CAS  PubMed  Google Scholar 

Jessen WJ, Miller SJ, Jousma E, Wu J, Rizvi TA, Brundage ME, et al. MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest. 2013;123(1):340–7. https://doi.org/10.1172/jci60578.

Article  CAS  PubMed  Google Scholar 

Kolberg M, Høland M, Lind GE, Ågesen TH, Skotheim RI, Hall KS, et al. Protein expression of BIRC5, TK1, and TOP2A in malignant peripheral nerve sheath tumours—a prognostic test after surgical resection. Mol Oncol. 2015;9(6):1129–39. https://doi.org/10.1016/j.molonc.2015.02.005.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Watson AL, Rahrmann EP, Moriarity BS, Choi K, Conboy CB, Greeley AD, et al. Canonical Wnt/β-catenin signaling drives human schwann cell transformation, progression, and tumor maintenance. Cancer Discov. 2013;3(6):674–89. https://doi.org/10.1158/2159-8290.Cd-13-0081.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zou CY, Smith KD, Zhu QS, Liu J, McCutcheon IE, Slopis JM, et al. Dual targeting of AKT and mammalian target of rapamycin: a potential therapeutic approach for malignant peripheral nerve sheath tumor. Mol Cancer Ther. 2009;8(5):1157–68. https://doi.org/10.1158/1535-7163.Mct-08-1008.

Article  CAS  PubMed  Google Scholar 

Maki RG, D’Adamo DR, Keohan ML, Saulle M, Schuetze SM, Undevia SD, et al. Phase II study of sorafenib in patients with metastatic or recurrent sarcomas. J Clin Oncol. 2009;27(19):3133–40. https://doi.org/10.1200/jco.2008.20.4495.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chugh R, Wathen JK, Maki RG, Benjamin RS, Patel SR, Meyers PA, et al. Phase II multicenter trial of imatinib in 10 histologic subtypes of sarcoma using a bayesian hierarchical statistical model. J Clin Oncol. 2009;27(19):3148–53. https://doi.org/10.1200/jco.2008.20.5054.

Article  CAS  PubMed  Google Scholar 

Schuetze SM, Wathen JK, Lucas DR, Choy E, Samuels BL, Staddon AP, et al. SARC009: Phase 2 study of dasatinib in patients with previously treated, high-grade, advanced sarcoma. Cancer. 2016;122(6):868–74. https://doi.org/10.1002/cncr.29858.

Article  CAS  PubMed  Google Scholar 

Dickson MA, Mahoney MR, Tap WD, D’Angelo SP, Keohan ML, Van Tine BA, et al. Phase II study of MLN8237 (Alisertib) in advanced/metastatic sarcoma. Ann Oncol. 2016;27(10):1855–60. https://doi.org/10.1093/annonc/mdw281.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oyama R, Kito F, Takahashi M, Hattori E, Noguchi R, Takai Y, et al. Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors. Cancer Cell Int. 2020;20:58. https://doi.org/10.1186/s12935-020-1128-z.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002;62(5):1573–7.

CAS  PubMed  Google Scholar 

Zhang X, Lou HE, Gopalan V, Liu Z, Jafarah HM, Lei H, et al. Single-cell sequencing reveals activation of core transcription factors in PRC2-deficient malignant peripheral nerve sheath tumor. Cell Rep. 2022;40(12):111363. https://doi.org/10.1016/j.celrep.2022.111363.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Butler A, Hoffman P, Smibert P, Papalexi E, Satija R. Integrating single-cell transcriptomic data across different conditions, technologies, and species. Nat Biotechnol. 2018;36(5):411–20. https://doi.org/10.1038/nbt.4096.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ortega MA, Poirion O, Zhu X, Huang S, Wolfgruber TK, Sebra R, et al. Using single-cell multiple omics approaches to resolve tumor heterogeneity. Clin Transl Med. 2017;6(1):46. https://doi.org/10.1186/s40169-017-0177-y.

Article  PubMed  PubMed Central  Google Scholar 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078–9. https://doi.org/10.1093/bioinformatics/btp352.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martínez-Jiménez F, Muiños F, Sentís I, Deu-Pons J, Reyes-Salazar I, Arnedo-Pac C, et al. A compendium of mutational cancer driver genes. Nat Rev Cancer. 2020;20(10):555–72. https://doi.org/10.1038/s41568-020-0290-x.

Article  CAS  PubMed  Google Scholar 

Fletcher JA, Kozakewich HP, Hoffer FA, Lage JM, Weidner N, Tepper R, et al. Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med. 1991;324(7):436–42. https://doi.org/10.1056