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Recurrent Neurofibromatosis Type 1

MedGen UID:
1668269
•Concept ID:
C4744488
•
Neoplastic Process

Definition

The reemergence of neurofibromatosis type 1 after a period of remission. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent Neurofibromatosis Type 1

Professional guidelines

PubMed

Diagnostic and treatment challenges in neurofibroma concerning the external nose.
Shakrawal N, Chouhan M, Solanki B
J Laryngol Otol 2022 Jun;136(6):473-478. Epub 2021 Dec 15 doi: 10.1017/S0022215121004126. PMID: 34906268
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Clinical relevance of phenotype/genotype correlations in the diagnosis and therapy of pheochromocytomas/paragangliomas.
Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giachè V, Fucci R, Mannelli M
Q J Nucl Med Mol Imaging 2013 Jun;57(2):112-21. PMID: 23822988

Recent clinical studies

Etiology

Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?
Fishbein L
Curr Cardiol Rep 2019 Jul 31;21(9):104. doi: 10.1007/s11886-019-1184-y. PMID: 31367972
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E
Cancer 2019 Aug 15;125(16):2829-2836. Epub 2019 Jun 17 doi: 10.1002/cncr.32083. PMID: 31206626Free PMC Article
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
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
Whole-genome characterization of chemoresistant ovarian cancer.
Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, Nones K, Cowin P, Alsop K, Bailey PJ, Kassahn KS, Newell F, Quinn MC, Kazakoff S, Quek K, Wilhelm-Benartzi C, Curry E, Leong HS; Australian Ovarian Cancer Study Group, Hamilton A, Mileshkin L, Au-Yeung G, Kennedy C, Hung J, Chiew YE, Harnett P, Friedlander M, Quinn M, Pyman J, Cordner S, O'Brien P, Leditschke J, Young G, Strachan K, Waring P, Azar W, Mitchell C, Traficante N, Hendley J, Thorne H, Shackleton M, Miller DK, Arnau GM, Tothill RW, Holloway TP, Semple T, Harliwong I, Nourse C, Nourbakhsh E, Manning S, Idrisoglu S, Bruxner TJ, Christ AN, Poudel B, Holmes O, Anderson M, Leonard C, Lonie A, Hall N, Wood S, Taylor DF, Xu Q, Fink JL, Waddell N, Drapkin R, Stronach E, Gabra H, Brown R, Jewell A, Nagaraj SH, Markham E, Wilson PJ, Ellul J, McNally O, Doyle MA, Vedururu R, Stewart C, Lengyel E, Pearson JV, Waddell N, deFazio A, Grimmond SM, Bowtell DD
Nature 2015 May 28;521(7553):489-94. doi: 10.1038/nature14410. PMID: 26017449
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E, Gómez C, Martín T, Fábregas P, Serra E, Lázaro C
Hum Mutat 2008 Sep;29(9):E173-93. doi: 10.1002/humu.20826. PMID: 18546366

Diagnosis

Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?
Fishbein L
Curr Cardiol Rep 2019 Jul 31;21(9):104. doi: 10.1007/s11886-019-1184-y. PMID: 31367972
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E
Cancer 2019 Aug 15;125(16):2829-2836. Epub 2019 Jun 17 doi: 10.1002/cncr.32083. PMID: 31206626Free PMC Article
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
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
Whole-genome characterization of chemoresistant ovarian cancer.
Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, Nones K, Cowin P, Alsop K, Bailey PJ, Kassahn KS, Newell F, Quinn MC, Kazakoff S, Quek K, Wilhelm-Benartzi C, Curry E, Leong HS; Australian Ovarian Cancer Study Group, Hamilton A, Mileshkin L, Au-Yeung G, Kennedy C, Hung J, Chiew YE, Harnett P, Friedlander M, Quinn M, Pyman J, Cordner S, O'Brien P, Leditschke J, Young G, Strachan K, Waring P, Azar W, Mitchell C, Traficante N, Hendley J, Thorne H, Shackleton M, Miller DK, Arnau GM, Tothill RW, Holloway TP, Semple T, Harliwong I, Nourse C, Nourbakhsh E, Manning S, Idrisoglu S, Bruxner TJ, Christ AN, Poudel B, Holmes O, Anderson M, Leonard C, Lonie A, Hall N, Wood S, Taylor DF, Xu Q, Fink JL, Waddell N, Drapkin R, Stronach E, Gabra H, Brown R, Jewell A, Nagaraj SH, Markham E, Wilson PJ, Ellul J, McNally O, Doyle MA, Vedururu R, Stewart C, Lengyel E, Pearson JV, Waddell N, deFazio A, Grimmond SM, Bowtell DD
Nature 2015 May 28;521(7553):489-94. doi: 10.1038/nature14410. PMID: 26017449
Gastrointestinal stromal tumour.
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056

Therapy

A phase II trial of selumetinib in children with recurrent optic pathway and hypothalamic low-grade glioma without NF1: a Pediatric Brain Tumor Consortium study.
Fangusaro J, Onar-Thomas A, Poussaint TY, Wu S, Ligon AH, Lindeman N, Campagne O, Banerjee A, Gururangan S, Kilburn LB, Goldman S, Qaddoumi I, Baxter P, Vezina G, Bregman C, Patay Z, Jones JY, Stewart CF, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M
Neuro Oncol 2021 Oct 1;23(10):1777-1788. doi: 10.1093/neuonc/noab047. PMID: 33631016Free PMC Article
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
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
Whole-genome landscapes of major melanoma subtypes.
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
Gastrointestinal stromal tumour.
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Neurofibrosarcoma.
Storm FK, Eilber FR, Mirra J, Morton DL
Cancer 1980 Jan 1;45(1):126-9. doi: 10.1002/1097-0142(19800101)45:1<126::aid-cncr2820450122>3.0.co;2-u. PMID: 6766081

Prognosis

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
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
A phase II trial of selumetinib in children with recurrent optic pathway and hypothalamic low-grade glioma without NF1: a Pediatric Brain Tumor Consortium study.
Fangusaro J, Onar-Thomas A, Poussaint TY, Wu S, Ligon AH, Lindeman N, Campagne O, Banerjee A, Gururangan S, Kilburn LB, Goldman S, Qaddoumi I, Baxter P, Vezina G, Bregman C, Patay Z, Jones JY, Stewart CF, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M
Neuro Oncol 2021 Oct 1;23(10):1777-1788. doi: 10.1093/neuonc/noab047. PMID: 33631016Free PMC Article
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
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
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.
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

Clinical prediction guides

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N
Eur J Hum Genet 2023 Jul;31(7):784-792. Epub 2023 Apr 4 doi: 10.1038/s41431-023-01320-0. PMID: 37012328Free PMC Article
Distinct Clinical and Radiographic Phenotypes in Pediatric Patients With Moyamoya.
Kaseka ML, Slim M, Muthusami P, Dirks PB, Westmacott R, Kassner A, Bhathal I, Williams S, Shroff M, Logan W, Moharir M, MacGregor DL, Pulcine E, deVeber GA, Dlamini N
Pediatr Neurol 2021 Jul;120:18-26. Epub 2021 Apr 2 doi: 10.1016/j.pediatrneurol.2021.03.002. PMID: 33962345
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
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
Whole-genome characterization of chemoresistant ovarian cancer.
Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, Nones K, Cowin P, Alsop K, Bailey PJ, Kassahn KS, Newell F, Quinn MC, Kazakoff S, Quek K, Wilhelm-Benartzi C, Curry E, Leong HS; Australian Ovarian Cancer Study Group, Hamilton A, Mileshkin L, Au-Yeung G, Kennedy C, Hung J, Chiew YE, Harnett P, Friedlander M, Quinn M, Pyman J, Cordner S, O'Brien P, Leditschke J, Young G, Strachan K, Waring P, Azar W, Mitchell C, Traficante N, Hendley J, Thorne H, Shackleton M, Miller DK, Arnau GM, Tothill RW, Holloway TP, Semple T, Harliwong I, Nourse C, Nourbakhsh E, Manning S, Idrisoglu S, Bruxner TJ, Christ AN, Poudel B, Holmes O, Anderson M, Leonard C, Lonie A, Hall N, Wood S, Taylor DF, Xu Q, Fink JL, Waddell N, Drapkin R, Stronach E, Gabra H, Brown R, Jewell A, Nagaraj SH, Markham E, Wilson PJ, Ellul J, McNally O, Doyle MA, Vedururu R, Stewart C, Lengyel E, Pearson JV, Waddell N, deFazio A, Grimmond SM, Bowtell DD
Nature 2015 May 28;521(7553):489-94. doi: 10.1038/nature14410. PMID: 26017449
Spinal deformity in neurofibromatosis type-1: diagnosis and treatment.
Tsirikos AI, Saifuddin A, Noordeen MH
Eur Spine J 2005 Jun;14(5):427-39. Epub 2005 Feb 15 doi: 10.1007/s00586-004-0829-7. PMID: 15712001Free PMC Article

Recent systematic reviews

Spinal Ganglioneuroma: A Systematic Review of the Literature.
Yousefi O, Saghebdoust S, Abdollahifard S, Motlagh MA, Farrokhi MR, Motiei-Langroudi R, Mousavi SR
World Neurosurg 2023 Dec;180:163-168.e7. Epub 2023 Sep 1 doi: 10.1016/j.wneu.2023.08.057. PMID: 37659751
Malignant peripheral nerve sheath tumour of the oral and maxillofacial region-A systematic review.
Schuch LF, Kirschnick LB, de Arruda JAA, Klein IP, Silveira FM, Vasconcelos ACU, Santos-Silva AR, Lopes MA, Carrard VC, Vargas PA, Martins MAT, Wagner VP, Martins MD
Oral Dis 2022 Nov;28(8):2072-2082. Epub 2021 Aug 12 doi: 10.1111/odi.13982. PMID: 34333825
Epidemiological and clinical burden associated with plexiform neurofibromas in pediatric neurofibromatosis type-1 (NF-1): a systematic literature review.
Iheanacho I, Yoo HK, Yang X, Dodman S, Hughes R, Amin S
Neurol Sci 2022 Feb;43(2):1281-1293. Epub 2021 Jun 18 doi: 10.1007/s10072-021-05361-5. PMID: 34143343Free PMC Article
Intracranial Malignant Peripheral Nerve Sheath Tumors Not Associated with a Cranial Nerve: Systematic Review and Illustrative Case.
Mackel CE, Medeiros I, Moore BE, Zhao Q, Jha R
World Neurosurg 2021 Dec;156:76-91. Epub 2021 Sep 24 doi: 10.1016/j.wneu.2021.09.072. PMID: 34563719
Cerebellar pleomorphic xanthoastrocytoma in the setting of neurofibromatosis type-I: Does it portend a different prognosis? A case report and systematic review.
Mathkour M, Banerjee S, Werner C, Hanna J, Abou-Al-Shaar H, Dindial R, Scullen T, Boehm L, Tubbs RS, Ware ML
Clin Neurol Neurosurg 2021 Jan;200:106346. Epub 2020 Nov 2 doi: 10.1016/j.clineuro.2020.106346. PMID: 33160715

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