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Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

MedGen UID:
1842855
Concept ID:
C5779636
Neoplastic Process
Synonyms: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion
 
Monarch Initiative: MONDO:0018208
Orphanet: ORPHA363700

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Professional guidelines

PubMed

Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A
J Med Genet 2007 Feb;44(2):81-8. Epub 2006 Nov 14 doi: 10.1136/jmg.2006.045906. PMID: 17105749Free PMC Article

Recent clinical studies

Etiology

Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ
Nat Rev Dis Primers 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. PMID: 28230061
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P
Am J Hum Genet 2000 Mar;66(3):790-818. doi: 10.1086/302809. PMID: 10712197Free PMC Article

Diagnosis

Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ
Nat Rev Dis Primers 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. PMID: 28230061
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Therapy

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Abramov D, Guiberson NGL, Burré J
J Neurochem 2021 Apr;157(2):165-178. Epub 2020 Aug 4 doi: 10.1111/jnc.15120. PMID: 32643187Free PMC Article
Cui XW, Ren JY, Gu YH, Li QF, Wang ZC
Curr Gene Ther 2020;20(2):100-108. doi: 10.2174/1566523220666200806111451. PMID: 32767931
Hayward NK, Wilmott JS, Waddell N, Johansson PA, Field MA, Nones K, Patch AM, Kakavand H, Alexandrov LB, Burke H, Jakrot V, Kazakoff S, Holmes O, Leonard C, Sabarinathan R, Mularoni L, Wood S, Xu Q, Waddell N, Tembe V, Pupo GM, De Paoli-Iseppi R, Vilain RE, Shang P, Lau LMS, Dagg RA, Schramm SJ, Pritchard A, Dutton-Regester K, Newell F, Fitzgerald A, Shang CA, Grimmond SM, Pickett HA, Yang JY, Stretch JR, Behren A, Kefford RF, Hersey P, Long GV, Cebon J, Shackleton M, Spillane AJ, Saw RPM, López-Bigas N, Pearson JV, Thompson JF, Scolyer RA, Mann GJ
Nature 2017 May 11;545(7653):175-180. Epub 2017 May 3 doi: 10.1038/nature22071. PMID: 28467829

Prognosis

Lucas CG, Sloan EA, Gupta R, Wu J, Pratt D, Vasudevan HN, Ravindranathan A, Barreto J, Williams EA, Shai A, Whipple NS, Bruggers CS, Maher O, Nabors B, Rodriguez M, Samuel D, Brown M, Carmichael J, Lu R, Mirchia K, Sullivan DV, Pekmezci M, Tihan T, Bollen AW, Perry A, Banerjee A, Mueller S, Gupta N, Hervey-Jumper SL, Oberheim Bush NA, Daras M, Taylor JW, Butowski NA, de Groot J, Clarke JL, Raleigh DR, Costello JF, Phillips JJ, Reddy AT, Chang SM, Berger MS, Solomon DA
Acta Neuropathol 2022 Oct;144(4):747-765. Epub 2022 Aug 9 doi: 10.1007/s00401-022-02478-5. PMID: 35945463Free PMC Article
Fangusaro J, Onar-Thomas A, Young Poussaint T, Wu S, Ligon AH, Lindeman N, Banerjee A, Packer RJ, Kilburn LB, Goldman S, Pollack IF, Qaddoumi I, Jakacki RI, Fisher PG, Dhall G, Baxter P, Kreissman SG, Stewart CF, Jones DTW, Pfister SM, Vezina G, Stern JS, Panigrahy A, Patay Z, Tamrazi B, Jones JY, Haque SS, Enterline DS, Cha S, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M
Lancet Oncol 2019 Jul;20(7):1011-1022. Epub 2019 May 28 doi: 10.1016/S1470-2045(19)30277-3. PMID: 31151904Free PMC Article
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, Wilkerson MD, Miller CR, Ding L, Golub T, Mesirov JP, Alexe G, Lawrence M, O'Kelly M, Tamayo P, Weir BA, Gabriel S, Winckler W, Gupta S, Jakkula L, Feiler HS, Hodgson JG, James CD, Sarkaria JN, Brennan C, Kahn A, Spellman PT, Wilson RK, Speed TP, Gray JW, Meyerson M, Getz G, Perou CM, Hayes DN; Cancer Genome Atlas Research Network
Cancer Cell 2010 Jan 19;17(1):98-110. doi: 10.1016/j.ccr.2009.12.020. PMID: 20129251Free PMC Article
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A
J Med Genet 2007 Feb;44(2):81-8. Epub 2006 Nov 14 doi: 10.1136/jmg.2006.045906. PMID: 17105749Free PMC Article

Clinical prediction guides

Fangusaro J, Onar-Thomas A, Young Poussaint T, Wu S, Ligon AH, Lindeman N, Banerjee A, Packer RJ, Kilburn LB, Goldman S, Pollack IF, Qaddoumi I, Jakacki RI, Fisher PG, Dhall G, Baxter P, Kreissman SG, Stewart CF, Jones DTW, Pfister SM, Vezina G, Stern JS, Panigrahy A, Patay Z, Tamrazi B, Jones JY, Haque SS, Enterline DS, Cha S, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M
Lancet Oncol 2019 Jul;20(7):1011-1022. Epub 2019 May 28 doi: 10.1016/S1470-2045(19)30277-3. PMID: 31151904Free PMC Article
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M
Hum Genomics 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. PMID: 28637487Free PMC Article
van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM
Clin Genet 2014 Apr;85(4):318-27. Epub 2013 Jun 25 doi: 10.1111/cge.12187. PMID: 23656349
North K
Am J Med Genet 2000 Summer;97(2):119-27. doi: 10.1002/1096-8628(200022)97:2<119::aid-ajmg3>3.0.co;2-3. PMID: 11180219
Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H
Genet Couns 1994;5(3):225-41. PMID: 7811422

Recent systematic reviews

Meyer SN, Simmons E, Studer AC, Rauen KA, Kiuru M
Melanoma Res 2023 Dec 1;33(6):437-446. Epub 2023 Aug 14 doi: 10.1097/CMR.0000000000000912. PMID: 37578532Free PMC Article
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B
Clin Genet 2021 Feb;99(2):259-268. Epub 2020 Nov 23 doi: 10.1111/cge.13874. PMID: 33131045
García-Romero MT, Parkin P, Lara-Corrales I
Pediatr Dermatol 2016 Jan-Feb;33(1):9-17. Epub 2015 Sep 4 doi: 10.1111/pde.12673. PMID: 26338194
Salvi PF, Lorenzon L, Caterino S, Antolino L, Antonelli MS, Balducci G
Int J Surg Oncol 2013;2013:398570. Epub 2013 Dec 9 doi: 10.1155/2013/398570. PMID: 24386562Free PMC Article
Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

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