Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

A. Bolčeková 1 , A. Hlavatá 1 , A. Zat'ková 2 , M. Némethová 2 , M. Holobradá 3 , P. Sýkora 3 , A. Gerinec 5 , K. Husáková 6 , D. Ilenčíková 1  and L Kovács 1 , 7
  • 1 Children's University Hospital Bratislava, 2 Department of Paediatrics, Comenius University in Bratislava, Faculty of Medicine, Bratislava, Slovakia
  • 2 Slovak Academy of Sciences, Insttute of Molecular Physiology and Genetcs, Bratislava, Slovakia
  • 3 Children's University Hospital Bratislava, Department of Paediatric Dermatology, Bratislava, Slovakia
  • 4 Children's University Hospital Bratislava, Department of Paediatric Neurology, Bratislava, Slovakia
  • 5 Children's University Hospital Bratislava, Department of Paediatric Ophthalmology, Bratislava, Slovakia
  • 6 Children's University Hospital Bratislava, Department of Paediatric Haematology and Oncology, Slovakia
  • 7 Orphanet Slovakia

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.

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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;39:311-4

  • [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.

  • [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.

  • [12] Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002. 17:548-54.

  • [13] Friedrich RE, Hartmann M, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in NF1-afected children. Anticancer Res. 2007;27:1957-60.

  • [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.

  • [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.

  • [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.

  • [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.

  • [18] Joubilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of Neurofibromatosis 1, Am J Pathol. 2011; May;178(5):1932-9.

  • [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.

  • [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.

  • [21] Korf BR. Clinical features and pathobiology of neurofibro-matosis 1, J Child Neurol. 2002;17(8):573–577.

  • [22] Landau M. and Krafchk BR. The diagnostic value of cafe'-au-lait macules, J Am Acad Dermatol. 1999;40:877-90.

  • [23] Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with Neurofibromatosis type 1. J Pe-diatr. 1989;114:788-92.

  • [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.

  • [25] Lund AM, Skovby F. Optic gliomas in children with neu-rofbromatosis type 1. Eur J of Pediatr. 1991;150: 835-838.

  • [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.

  • [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.

  • [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.

  • [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

  • [30] National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Bethesda, Md, USA, 13-15 July 1987. Neurofibromatosis 1988;1:172-8.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

  • [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.

OPEN ACCESS

Journal + Issues

Search