Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Improving the lives of children with neurofibromatosis type 1

  • Kim, Yoo-Mi (Department of Pediatrics, Chungnam National University, College of Medicine, Chungnam National University Sejong Hospital)
  • 투고 : 2020.07.20
  • 심사 : 2020.09.12
  • 발행 : 2021.04.15
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참고문헌

  1. Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR, et al. Health supervision for children with neurofibromatosis type 1. Pediatrics 2019;143:e20190660. https://doi.org/10.1542/peds.2019-0660
  2. Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 2002;17:562-651. https://doi.org/10.1177/088307380201700804
  3. Armstrong AE, Brossier NM, Hirbe AC. Neurofibromatosis type 1-related tumours in paediatrics: an evolving treatment landscape. Lancet Child Adolesc Health 2020;4:488-90. https://doi.org/10.1016/S2352-4642(20)30169-3
  4. Allaway RJ, Gosline SJC, La Rosa S, Knight P, Bakker A, Guinney J, et al. Cutaneous neurofibromas in the genomics era: current understanding and open questions. Br J Cancer 2018;118:1539-48. https://doi.org/10.1038/s41416-018-0073-2
  5. Wu-Chou YH, Hung TC, Lin YT, Cheng HW, Lin JL, Lin CH, et al. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis. J Biomed Sci 2018;25:72. https://doi.org/10.1186/s12929-018-0474-9
  6. Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am 2019;103:1035-54. https://doi.org/10.1016/j.mcna.2019.07.004
  7. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8. https://doi.org/10.1136/jmg.2006.045906
  8. Kang EG, Yoon HM, Lee BH. Neurofibromatosis type I: points to be considered by general pediatricians. Clin Exp Pediatr 2021;64:149-56. https://doi.org/10.3345/cep.2020.00871.
  9. Gross AM, Wolters PL, Dombi E, Baldwin A, Whitcomb P, Fisher MJ, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med 2020;382:1430-42. https://doi.org/10.1056/NEJMoa1912735
  10. Killock D. Selumetinib benefits children with inoperable plexiform neurofibromas. Nat Rev Clin Oncol 2020;17:273. https://doi.org/10.1038/s41571-020-0361-7