Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Bolčeková, A.; Hlavatá, A.; Zat'ková, A.; Némethová, M.; Holobradá, M.; Sýkora, P.; Gerinec, A.; Husáková, K.; Ilenčíková, D.; Kovács, L

doi:10.2478/afpuc-2014-0003

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.

References

[1] Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, Mc-Cluggage C Plon SE. Outcomes of systematic screening for optic pathway tumors in children with neurofibroma-tosis type 1. Am J Med Genet. 2004;127A:224-229.10.1002/ajmg.a.2065015150770
Search in Google Scholar
[2] Bolcekova A, Nemethova M, Zatkova A Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D. Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma, Neoplasma. 2013;60 (6):655-65.10.4149/neo_2013_08423906300
Search in Google Scholar
[3] Brown EW, Riccardi VM, Mawad M, Handel S, Goldman A, Bryan RN. MR imaging of optic pathways in patients with Neurofibromatosis. Am J Neuroradiol. 1987;8:1031-1036.
Search in Google Scholar
[4] Brzowski AE, Bazan C, Mumma JV, Ryan SG. Spontaneous regression of optic glioma in a patient with neurofibro-matosis, Neurology 1992;42:679-681.10.1212/WNL.42.3.6791549238
Search in Google Scholar
[5] Czyzyk E, Jozwiak S, Roskowski M, Schwartz RA. Optic pathway gliomas in children with and without neurof-bromatosis type1. J Child Neurol. 2003;18:471-478.10.1177/0883073803018007040112940652
Search in Google Scholar
[6] De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet. 2003;72:1288–1292.10.1086/374821118028112660952
Search in Google Scholar
[7] DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for diagnosis of neurofibroma-tosis 1 in children. Pediatrics. 2000;105:608-14.10.1542/peds.105.3.60810699117
Search in Google Scholar
[8] DeClue JE, Papageorge AG, Fletcher JA, Diehl SR, Ratner N, Vass WC, Lowy DR. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) Neurofibromatosis. Cell. 1999;69, 265-273.
Search in Google Scholar
[9] Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in Neurofibromatosis 1. J Med Genet 2002;39:311-410.1136/jmg.39.5.311173512212011145
Search in Google Scholar
[10] Feldmann R, Denecke J, Grenzebach M, Schuierer G, We-glage. Neurofibromatosis type 1: Motor and cognitive function and T2-weighted MRI hyperintensities. J Neurology. 2003; Dec 23;61(12):1725-8.10.1212/01.WNL.0000098881.95854.5F14694037
Search in Google Scholar
[11] Ferner R, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Guidelines for the diagnosis and management of individuals with Neurofibromatosis 1. J Med Genet. 2007;44(2):81-88.10.1136/jmg.2006.045906259806317105749
Search in Google Scholar
[12] Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002. 17:548-54.10.1177/08830738020170080212403552
Search in Google Scholar
[13] Friedrich RE, Hartmann M, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in NF1-afected children. Anticancer Res. 2007;27:1957-60.
Search in Google Scholar
[14] Gill DS, Hyman SL, Steinberg A, North KN. Age-related fndings on MRI in Neurofibromatosis type 1. Pediatr Ra-diol. 2006;31:1048-1056.10.1007/s00247-006-0267-2
Search in Google Scholar
[15] Gutmann, D H, Aylsworth A, Carey JC, Korf B, Marks J, Py-eritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibroma-tosis 1 and Neurofibromatosis 2. JAMA. 1997;278, 51-57.
Search in Google Scholar
[16] Hsu TR, Wong TT, Chang FC Ho DM, Tang RB, Thien PF, Chang KP. Responsiveness of progressive optic pathway tumors to cisplatin-based chemotherapy in children. Childs Nerv Syst. 2008;24:1457–1461.10.1007/s00381-008-0707-4
Search in Google Scholar
[17] Hyman SL, Gill DS, Shores EA, Steinberg A, North KN. T2 hyperintensities in children with Neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1088-91.10.1136/jnnp.2006.108134
Search in Google Scholar
[18] Joubilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of Neurofibromatosis 1, Am J Pathol. 2011; May;178(5):1932-9.10.1016/j.ajpath.2010.12.056
Search in Google Scholar
[19] Kayes LM, Burke W, Ricardi VM, Bennett R, Ehrlich P, Ru-benstein A, Stephens K. Deletions spanning the neuro-fbromatosis type 1 gene: identifcation of phenotype in fve patients, Am J Hum Genet. 1994;54: 424–436.
Search in Google Scholar
[20] Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner VF. Constitutional NF1 mutations in Neurofibromatosis type 1 patients with malignant peripheral nerve sheath tumors. Hum Mutat. 2003;22:420.10.1002/humu.9193
Search in Google Scholar
[21] Korf BR. Clinical features and pathobiology of neurofibro-matosis 1, J Child Neurol. 2002;17(8):573–577.10.1177/088307380201700806
Search in Google Scholar
[22] Landau M. and Krafchk BR. The diagnostic value of cafe'-au-lait macules, J Am Acad Dermatol. 1999;40:877-90.10.1016/S0190-9622(99)70075-7
Search in Google Scholar
[23] Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with Neurofibromatosis type 1. J Pe-diatr. 1989;114:788-92.10.1016/S0022-3476(89)80137-4
Search in Google Scholar
[24] Lopes JR, Munis M P, Soares A, Sanches RA, Goloni-Bertol-lo EM, Pavarino-Bertelli EC, Unidentifed bright objects on brain MRI in children as a diagnostic criterion for neu-rofbromatosis type 1. Pediat Radiol. 2008;38(3):305-310.10.1007/s00247-007-0712-x18231788
Search in Google Scholar
[25] Lund AM, Skovby F. Optic gliomas in children with neu-rofbromatosis type 1. Eur J of Pediatr. 1991;150: 835-838.10.1007/BF019550021743214
Search in Google Scholar
[26] Mahoney DH Jr, Cohen ME, Friedman HS, Kepner JL, Gemer L, Langston JW, James HE, Dufner PK, Kun LE. Carboplatin is efective therapy for young children with progressive optic pathway tumors: a Pediatric Oncology Group phase II study, Neuro Oncol. 2000;2:213-220.10.1093/neuonc/2.4.213
Search in Google Scholar
[27] Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroz L, Clark R, OConnell P, Cawthon RM, Innis MA, McCormik F. The GAP-related domain of the Neurofibromatosis type 1 gene product interacts with ras p21. Cell 63, 1990;843-849.10.1016/0092-8674(90)90150-D
Search in Google Scholar
[28] McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG. A clinical study of type 1 Neurofibromatosis in north west England. J Med Genet. 1999;36:192-6.
Search in Google Scholar
[29] 2Messiaen L and Wimmer K. Mutation analysis of the NF1 gene by cDNA-based sequencing of the coding region. In Goncalves Cunha K.S., Geller M. (Eds.) Advances in Neuro-fbromatosis Research, Nova Science, Inc., New York 2012; 89–108, ISBN: 978-1-61324-661-0
Search in Google Scholar
[30] National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Bethesda, Md, USA, 13-15 July 1987. Neurofibromatosis 1988;1:172-8.
Search in Google Scholar
[31] Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A. Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identifed in Slovak Patients, Ann Hum Genet. 2013;77(5):364-79.10.1111/ahg.12026
Search in Google Scholar
[32] North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB. Cognitive function and academic performance in Neurofibromatosis 1: Consensus statement from the NF1 cognitive disorders task force. Neurology 1997, 48:1121–1127.10.1212/WNL.48.4.1121
Search in Google Scholar
[33] Otsuka F, Kawashima T, Imakado S, Usuki Y, Hon-Mura S. Lisch nodules and skin manifestation in Neurofibromato-sis type 1, Arch. Derm. 2001;137:232-233.
Search in Google Scholar
[34] Parsa CF, Hoyt CS, Lesser RL, Weinstein JM, Strother CM, Muci-Mendoza R, Ramella M, Manor RS, Fletcher WA, Repka MX, Garrity JA, Ebner RN, Monteiro ML, McFadz-ean RM, Rubtsova IV, Hoyt WF. Spontaneous Regression of Optic Gliomas Thirteen Cases Documented by Serial Neuroimaging, Arch Ophthalmol. 2001;119:516–529.
Search in Google Scholar
[35] Petrák B and Filouš A. Význam vyšetření predního seg-mentu oka pro diagnostiku Neurofibromatosis von Reck-linghausen, Čs. Pediatrie 1998;53,6, 328-331
Search in Google Scholar
[36] Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Molecular analysis of individuals with Neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and assessment of genotype-phenotype correlations, J Med Genet. 2011;48:256–260.10.1136/jmg.2010.081760
Search in Google Scholar
[37] Sharif S, Ferner R, Birch JM, Gillespie JE, Gattamaneni HR, Baser ME, Evans DG. Second primary tumors in neurof-bromatosis 1 patients treated for optic gliomas: substantial risks after radiotherapy, J Clin Oncol. 2006;24:2570– 2575.10.1200/JCO.2005.03.8349
Search in Google Scholar
[38] Singhal S, Birch JM, Kerr B, LAshford L, Evans DG. Neuro-fbromatosis type 1 and sporadic optic gliomas, Arch Dis Child. 2002;87:65–70.10.1136/adc.87.1.65
Search in Google Scholar
[39] Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzha-nova N, Giovannini S, Evans DG, Howard E, Kerr B, Grifths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Bar-nicoat A, Li H, Wallace P, Van Biervliet J P, Stevenson D, Vis-kochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. An absence of cutaneous neurofibromas associated with 3-bp inframe deletion in exon 17 of the NF1 gene (c2970-2972 del AAT); evidence of a clinically signifcant NF1 phenotype correlation. Am J Hum Genet. 2007;80: 140–151.10.1086/510781
Search in Google Scholar
[40] Vraa S, Nielsen OS, Sneppen O, Jurik AG, Jensen OM, Prognostic factors in soft tissue sarcomas: the Aarhus experience, Eur J Cancer. 1998;34(12):1876-82.10.1016/S0959-8049(98)00233-0
Search in Google Scholar
[41] Yang JC, Baker AR, Sindelar WF, Danforth DN, Topalian SL, DeLaney T, Glatstein E, Steinberg SM, Merino MJ, Rosenberg SA. Randomized prospective study of the beneft of adjuvant radiation therapy in the treatment of soft tissue sarcomas of the extremity, J Clin Oncol. 1998;16(1):197-203.10.1200/JCO.1998.16.1.1979440743
Search in Google Scholar
[42] Yunoue S, Tokuo H, Fukunaga K, Feng L, Ozawa T, Nishi T, Kikuchi A, Hattori S, Kuratsu J, Saya H, Araki N. Neu-rofbromatosis type I tumor suppressor neurofibromin regulates neuronal diferentiation via its GTPase activating protein function toward Ras. J Biol Chem. 2003;278, 26958–26969.
Search in Google Scholar

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

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