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Refractory Neurofibromatosis Type 1

MedGen UID:
1656136
•Concept ID:
C4744489
•
Neoplastic Process

Definition

Neurofibromatosis type 1 that is resistant to treatment. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Risk factors for treatment-refractory and relapsed optic pathway glioma in children with neurofibromatosis type 1.
Kotch C, Avery R, Getz KD, Bouffet E, de Blank P, Listernick R, Gutmann DH, Bornhorst M, Campen C, Liu GT, Aplenc R, Li Y, Fisher MJ
Neuro Oncol 2022 Aug 1;24(8):1377-1386. doi: 10.1093/neuonc/noac013. PMID: 35018469Free PMC Article
Trametinib therapy for children with neurofibromatosis type 1 and life-threatening plexiform neurofibroma or treatment-refractory low-grade glioma.
Ronsley R, Hounjet CD, Cheng S, Rassekh SR, Duncan WJ, Dunham C, Gardiner J, Ghag A, Ludemann JP, Wensley D, Rehmus W, Sargent MA, Hukin J
Cancer Med 2021 Jun;10(11):3556-3564. Epub 2021 May 3 doi: 10.1002/cam4.3910. PMID: 33939292Free PMC Article
Molecular-guided therapy predictions reveal drug resistance phenotypes and treatment alternatives in malignant peripheral nerve sheath tumors.
Peacock JD, Cherba D, Kampfschulte K, Smith MK, Monks NR, Webb CP, Steensma M
J Transl Med 2013 Sep 17;11:213. doi: 10.1186/1479-5876-11-213. PMID: 24040940Free PMC Article

Recent clinical studies

Etiology

Risk factors for treatment-refractory and relapsed optic pathway glioma in children with neurofibromatosis type 1.
Kotch C, Avery R, Getz KD, Bouffet E, de Blank P, Listernick R, Gutmann DH, Bornhorst M, Campen C, Liu GT, Aplenc R, Li Y, Fisher MJ
Neuro Oncol 2022 Aug 1;24(8):1377-1386. doi: 10.1093/neuonc/noac013. PMID: 35018469Free PMC Article
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.
Perreault S, Larouche V, Tabori U, Hawkin C, Lippé S, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, Sultan S, Cantin É, Routhier MÈ, Caru M, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Jabado N
BMC Cancer 2019 Dec 27;19(1):1250. doi: 10.1186/s12885-019-6442-2. PMID: 31881853Free 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
Phaeochromocytoma: state-of-the-art.
Donckier JE, Michel L
Acta Chir Belg 2010 Mar-Apr;110(2):140-8. doi: 10.1080/00015458.2010.11680587. PMID: 20514823

Diagnosis

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation.
Lu YT, Rejiepu B, Zhang D, Cai DC, Yang KQ, Tian T, Zhou XL, Fan P
Kidney Blood Press Res 2023;48(1):568-577. Epub 2023 Aug 10 doi: 10.1159/000533144. PMID: 37562365Free 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
Phaeochromocytoma: state-of-the-art.
Donckier JE, Michel L
Acta Chir Belg 2010 Mar-Apr;110(2):140-8. doi: 10.1080/00015458.2010.11680587. PMID: 20514823
Plexiform neurofibromas.
Korf BR
Am J Med Genet 1999 Mar 26;89(1):31-7. doi: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w. PMID: 10469434

Therapy

Effects of dupilumab in type 1 neurofibromatosis coexisting with severe atopic dermatitis.
Chello C, Sernicola A, Paolino G, Grieco T
An Bras Dermatol 2021 Sep-Oct;96(5):638-640. Epub 2021 Jul 16 doi: 10.1016/j.abd.2020.10.006. PMID: 34275694Free PMC Article
Trametinib therapy for children with neurofibromatosis type 1 and life-threatening plexiform neurofibroma or treatment-refractory low-grade glioma.
Ronsley R, Hounjet CD, Cheng S, Rassekh SR, Duncan WJ, Dunham C, Gardiner J, Ghag A, Ludemann JP, Wensley D, Rehmus W, Sargent MA, Hukin J
Cancer Med 2021 Jun;10(11):3556-3564. Epub 2021 May 3 doi: 10.1002/cam4.3910. PMID: 33939292Free PMC Article
Clinical Characteristics and Long-Term Outcomes of Midaortic Syndrome.
Patel RS, Nguyen S, Lee MT, Price MD, Krause H, Truong VTT, Sandhu HK, Charlton-Ouw KM, LeMaire SA, Coselli JS, Prakash SK
Ann Vasc Surg 2020 Jul;66:318-325. Epub 2020 Jan 7 doi: 10.1016/j.avsg.2019.12.039. PMID: 31923594
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.
Perreault S, Larouche V, Tabori U, Hawkin C, Lippé S, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, Sultan S, Cantin É, Routhier MÈ, Caru M, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Jabado N
BMC Cancer 2019 Dec 27;19(1):1250. doi: 10.1186/s12885-019-6442-2. PMID: 31881853Free 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

Prognosis

Pediatric PK/PD Phase I Trial of Pexidartinib in Relapsed and Refractory Leukemias and Solid Tumors Including Neurofibromatosis Type I-Related Plexiform Neurofibromas.
Boal LH, Glod J, Spencer M, Kasai M, Derdak J, Dombi E, Ahlman M, Beury DW, Merchant MS, Persenaire C, Liewehr DJ, Steinberg SM, Widemann BC, Kaplan RN
Clin Cancer Res 2020 Dec 1;26(23):6112-6121. Epub 2020 Sep 17 doi: 10.1158/1078-0432.CCR-20-1696. PMID: 32943455Free PMC Article
Clinical Characteristics and Long-Term Outcomes of Midaortic Syndrome.
Patel RS, Nguyen S, Lee MT, Price MD, Krause H, Truong VTT, Sandhu HK, Charlton-Ouw KM, LeMaire SA, Coselli JS, Prakash SK
Ann Vasc Surg 2020 Jul;66:318-325. Epub 2020 Jan 7 doi: 10.1016/j.avsg.2019.12.039. PMID: 31923594
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
Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1.
Kubota S, Imai T, Iwai S, Nakazawa M, Uzawa N
J Craniofac Surg 2019 May/Jun;30(3):e205-e207. doi: 10.1097/SCS.0000000000005094. PMID: 30444769
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ
Am J Med Genet A 2011 Jun;155A(6):1360-6. Epub 2011 May 12 doi: 10.1002/ajmg.a.33996. PMID: 21567923

Clinical prediction guides

Effects of dupilumab in type 1 neurofibromatosis coexisting with severe atopic dermatitis.
Chello C, Sernicola A, Paolino G, Grieco T
An Bras Dermatol 2021 Sep-Oct;96(5):638-640. Epub 2021 Jul 16 doi: 10.1016/j.abd.2020.10.006. PMID: 34275694Free PMC Article
Clinical Characteristics and Long-Term Outcomes of Midaortic Syndrome.
Patel RS, Nguyen S, Lee MT, Price MD, Krause H, Truong VTT, Sandhu HK, Charlton-Ouw KM, LeMaire SA, Coselli JS, Prakash SK
Ann Vasc Surg 2020 Jul;66:318-325. Epub 2020 Jan 7 doi: 10.1016/j.avsg.2019.12.039. PMID: 31923594
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.
Perreault S, Larouche V, Tabori U, Hawkin C, Lippé S, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, Sultan S, Cantin É, Routhier MÈ, Caru M, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Jabado N
BMC Cancer 2019 Dec 27;19(1):1250. doi: 10.1186/s12885-019-6442-2. PMID: 31881853Free 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

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