From benign neurofibromas to malignant peripheral nerve sheath tumors (MPNST): a gaming among multiple factors

D.G. Evans, E. Howard, C. Giblin, T. Clancy, H. Spencer, S.M. Huson, F. Lalloo, Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am. J. Med. GenetA. 152A(2), 327–332 (2010). https://doi.org/10.1002/ajmg.a.33139

Article  CAS  PubMed  Google Scholar 

M. Lammert, J.M. Friedman, L. Kluwe, V.F. Mautner, Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch. Dermatol. 141(1), 71–74 (2005). https://doi.org/10.1001/archderm.141.1.71.

Article  PubMed  Google Scholar 

S.A. Rasmussen, J.M. Friedman, NF1 gene and neurofibromatosis 1. Am. J. Epidemiol. 151(1), 33–40 (2000). https://doi.org/10.1093/oxfordjournals.aje.a010118

Article  CAS  PubMed  Google Scholar 

J.R. Antonio, E.M. Goloni-Bertollo, L.A. Tridico, Neurofibromatosis: chronological history and current issues. An Bras. Dermatol. 88(3), 329–343 (2013). https://doi.org/10.1590/abd1806-4841.20132125

Article  PubMed  PubMed Central  Google Scholar 

S.F. Alves Junior, G. Zanetti, A.S. Alves de Melo, A.S. Souza Jr, L.S. Souza, G. de Souza Portes Meirelles, K.L. Irion, B. Hochhegger, E. Marchiori, Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir. Med. 149, 9–15 (2019). https://doi.org/10.1016/j.rmed.2019.01.002

Article  PubMed  Google Scholar 

V. Reinhold, R.A. Kallionpaa, M. Valtanen, K. Auranen, S. Syrjanen, S. Peltonen, J. Peltonen, Hospital visits associated with oral infections in patients with neurofibromatosis Type 1: a register-based analysis. Am J. Med. Genet. A. e63887 (2024). https://doi.org/10.1002/ajmg.a.63887

M.M. Lakkis, G.I. Tennekoon, Neurofibromatosis type 1. I. General overview. J. Neurosci. Res. 62(6), 755–763 (2000). https://doi.org/10.1002/1097-4547(20001215)62:6%3C;755::AID-JNR1%3E;3.0.CO;2-W

CAS  PubMed  Google Scholar 

J.P. Landry, K.L. Schertz, Y.J. Chiang, A.D. Bhalla, M. Yi, E.Z. Keung, C.P. Scally, B.W. Feig, K.K. Hunt, C.L. Roland, A. Guadagnolo, A.J. Bishop, A.J. Lazar, J.M. Slopis, I.E. McCutcheon, K.E. Torres, Comparison of cancer prevalence in patients with neurofibromatosis Type 1 at an academic cancer center vs in the general population From 1985 to 2020. JAMA Network Open. 4(3), e210945 (2021). https://doi.org/10.1001/jamanetworkopen.2021.0945

Article  PubMed  PubMed Central  Google Scholar 

N. Ratner, S.J. Miller, A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat. Rev. Cancer. 15(5), 290–301 (2015). https://doi.org/10.1038/nrc3911

Article  CAS  PubMed  PubMed Central  Google Scholar 

M.R. Perrino, A. Das, S.R. Scollon, S.G. Mitchell, M.C. Greer, M.E. Yohe, J.R. Hansford, J.M. Kalish, K.A.P. Schultz, S.P. MacFarland, W.K. Kohlmann, P.J. Lupo, K.N. Maxwell, S.M. Pfister, R. Weksberg, O. Michaeli, M.C.J. Jongmans, G.E. Tomlinson, J. Brzezinski, U. Tabori, G.M. Ney, K.W. Gripp, A.M. Gross, B.C. Widemann, D.R. Stewart, E.R. Woodward, C.P. Kratz, Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies. Clin. Cancer. Res. 30(21), 4834–4843 (2024). https://doi.org/10.1158/1078-0432.CCR-24-1611

Article  CAS  PubMed  Google Scholar 

Y. Zhu, L.F. Parada, Neurofibromin, a tumor suppressor in the nervous system. Exp. Cell Res. 264(1), 19–28 (2001). https://doi.org/10.1006/excr.2000.5138

Article  CAS  PubMed  Google Scholar 

D.K. Simanshu, D.V. Nissley, F. McCormick, RAS proteins and their regulators in human disease. Cell. 170(1), 17–33 (2017). https://doi.org/10.1016/j.cell.2017.06.009

T.N. Basu, D.H. Gutmann, J.A. Fletcher, T.W. Glover, F.S. Collins, J. Downward, Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature. 356(6371), 713–715 (1992). https://doi.org/10.1038/356713a0

Article  CAS  PubMed  Google Scholar 

R.J. Allaway, S.J.C. Gosline, S. La Rosa, P. Knight, A. Bakker, J. Guinney, L.Q. Le, Cutaneous neurofibromas in the genomics era: current understanding and open questions. Br. J. Cancer. 118(12), 1539–1548 (2018). https://doi.org/10.1038/s41416-018-0073-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

C.E. Prada, F.A. Rangwala, L.J. Martin, A.M. Lovell, H.M. Saal, E.K. Schorry, R.J. Hopkin, Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J. Pediatr. 160(3), 461–467 (2012). https://doi.org/10.1016/j.jpeds.2011.08.051

Article  PubMed  Google Scholar 

V.F. Mautner, F.A. Asuagbor, E. Dombi, C. Funsterer, L. Kluwe, R. Wenzel, B.C. Widemann, J.M. Friedman, Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro. Oncol. 10(4), 593–598 (2008). https://doi.org/10.1215/15228517-2008-011

Article  PubMed  PubMed Central  Google Scholar 

E. Legius, D.A. Marchuk, F.S. Collins, T.W. Glover, Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat. Genet. 3(2), 122–126 (1993). https://doi.org/10.1038/ng0293-122

Article  CAS  PubMed  Google Scholar 

K.J. Radomska, F. Coulpier, A. Gresset, A. Schmitt, A. Debbiche, S. Lemoine, P. Wolkenstein, J.M. Vallat, P. Charnay, P. Topilko, Cellular origin, tumor progression, and pathogenic mechanisms of cutaneous neurofibromas revealed by mice with Nf1 knockout in boundary cap cells. Cancer Discov. 9(1), 130–147 (2019). https://doi.org/10.1158/2159-8290.CD-18-0156

Article  CAS  PubMed  Google Scholar 

K. Staser, F.C. Yang, D.W. Clapp, Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu. Rev. Pathol. 7, 469–495 (2012). https://doi.org/10.1146/annurev-pathol-011811-132441

Article  CAS  PubMed  Google Scholar 

S. Ingham, S.M. Huson, A. Moran, J. Wylie, M. Leahy, D.G. Evans, Malignant peripheral nerve sheath tumours in NF1: improved survival in women and in recent years. Eur. J. Cancer. 47(18), 2723–2728 (2011). https://doi.org/10.1016/j.ejca.2011.05.031

Article  PubMed  Google Scholar 

R.J. Packer, D.H. Gutmann, A. Rubenstein, D. Viskochil, R.A. Zimmerman, G. Vezina, J. Small, B. Korf, Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 58(10), 1461–1470 (2002). https://doi.org/10.1212/wnl.58.10.1461

Article  CAS  PubMed  Google Scholar 

I. Solares, D. Vinal, M. Morales-Conejo, N. Rodriguez-Salas, J. Feliu, Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review. ESMO Open. 6(4), 100223 (2021). https://doi.org/10.1016/j.esmoop.2021.100223

Article  CAS  PubMed  PubMed Central  Google Scholar 

D.H. Gutmann, R.E. Ferner, R.H. Listernick, B.R. Korf, P.L. Wolters, K.J. Johnson, Neurofibromatosis type 1. Nat. Rev. Dis. Primers. 3, 17004 (2017). https://doi.org/10.1038/nrdp.2017.4

Article  PubMed  Google Scholar 

L.J. Kershner, K. Choi, J. Wu, X. Zhang, M. Perrino, N. Salomonis, J.F. Shern, N. Ratner, Multiple Nf1 Schwann cell populations reprogram the plexiform neurofibroma tumor microenvironment. JCI Insight. 7(18), (2022). https://doi.org/10.1172/jci.insight.154513

L.J. Metheny, A.J. Cappione, G.R. Skuse, Genetic and epigenetic mechanisms in the pathogenesis of neurofibromatosis type I. J. Neuropathol. Exp. Neurol. 54(6), 753–760 (1995). https://doi.org/10.1097/00005072-199511000-00001

Article  CAS  PubMed  Google Scholar 

A.M. Gross, E. Dombi, P.L. Wolters, A. Baldwin, A. Dufek, K. Herrera, S. Martin, J. Derdak, K.S. Heisey, P.M. Whitcomb, S.M. Steinberg, D.J. Venzon, M.J. Fisher, A. Kim, M. Bornhorst, B.D. Weiss, J.O. Blakeley, M.A. Smith, B.C. Widemann, Long-term safety and efficacy of selumetinib in children with neurofibromatosis type 1 on a phase 1/2 trial for inoperable plexiform neurofibromas. Neuro. Oncol. 25(10), 1883–1894 (2023). https://doi.org/10.1093/neuonc/noad086

Article  CAS  PubMed  PubMed Central  Google Scholar 

A.M. Gross, B. Glassberg, P.L. Wolters, E. Dombi, A. Baldwin, M.J. Fisher, A. Kim, M. Bornhorst, B.D. Weiss, J.O. Blakeley, P. Whitcomb, S.M. Paul, S.M. Steinberg, D.J. Venzon, S. Martin, A. Carbonell, K. Heisey, J. Therrien, O. Kapustina, A. Dufek, J. Derdak, M.A. Smith, B.C. Widemann, Selumetinib in children with neurofibromatosis type 1 and asymptomatic inoperable plexiform neurofibroma at risk for developing tumor-related morbidity. Neuro. Oncol. 24(11), 1978–1988 (2022). https://doi.org/10.1093/neuonc/noac109

Article  CAS  PubMed  PubMed Central  Google Scholar 

E. Dombi, A. Baldwin, L.J. Marcus, M.J. Fisher, B. Weiss, A. Kim, P. Whitcomb, S. Martin, L.E. Aschbacher-Smith, T.A. Rizvi, J. Wu, R. Ershler, P. Wolters, J. Therrien, J. Glod, J.B. Belasco, E. Schorry, A. Brofferio, A.J. Starosta, A. Gillespie, A.L. Doyle, N. Ratner, B.C. Widemann, Activity of Selumetinib in Neurofibromatosis Type 1-related plexiform neurofibromas. N Engl. J. Med. 375(26), 2550–2560 (2016). https://doi.org/10.1056/NEJMoa1605943

Article  CAS  PubMed 

Comments (0)

No login
gif