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Brain Tumors in Children pp 91–116Cite as

Predisposition Syndromes to Central Nervous System Cancers

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Abstract

Currently, only a minority of pediatric central nervous system (CNS) tumors are attributable to an underlying genetic predisposition syndrome. Despite their rarity, genetic predisposition syndromes play a disproportionately important role in the management of children with CNS cancers due to their influence on therapeutic strategies, treatment-related toxicities, and long-term prognosis, and on the need for genetic counseling of families and screening of affected individuals. Likewise, the unveiling of pathogenic mechanisms involved in rare CNS cancer predisposition syndromes has greatly increased our understanding of the somatic molecular abnormalities that occur in sporadic tumors.

Sophisticated molecular analyses of tumor and germline samples, including the use of next-generation sequencing, have unveiled the somatic landscape of pediatric CNS tumors and raised further awareness about the role of genetic predisposition syndromes. As these technologies become increasingly incorporated into clinical practice, they will likely expand the knowledge about the role of genetic predisposition syndromes in the development of pediatric CNS cancers.

In this chapter, we highlight important clinical, genetic, and therapeutic aspects associated with several genetic predisposition syndromes that are relevant for medical professionals taking care of children with CNS cancers, from the ones commonly encountered in clinical practice (e.g., neurofibromatosis type 1) to extremely rare conditions (e.g., constitutional mismatch-repair deficiency syndrome) that have improved our understanding of the biology of some of these devastating tumors.

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References

  • Adriaensen ME, Schaefer-Prokop CM, Stijnen T, Duyndam DA, Zonnenberg BA, Prokop M (2009) Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol 16(6):691–696. https://doi.org/10.1111/j.1468-1331.2009.02567.x

    Article  CAS  PubMed  Google Scholar 

  • Aguilera DG, Mazewski C, Schniederjan MJ, Leong T, Boydston W, Macdonald TJ (2011) Neurofibromatosis-2 and spinal cord ependymomas: report of two cases and review of the literature. Childs Nerv Syst 27(5):757–764. https://doi.org/10.1007/s00381-010-1351-3

    Article  PubMed  Google Scholar 

  • Ahn MS, Jackler RK, Lustig LR (1996) The early history of the neurofibromatosis. Evolution of the concept of neurofibromatosis type 2. Arch Otolaryngol Head Neck Surg 122(11):1240–1249

    Article  CAS  PubMed  Google Scholar 

  • Alderfer MA, Zelley K, Lindell RB, Novokmet A, Mai PL, Garber JE, Nathan D, Scollon S, Chun NM, Patenaude AF, Ford JM, Plon SE, Schiffman JD, Diller LR, Savage SA, Malkin D, Ford CA, Nichols KE (2015) Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer 121(2):286–293. https://doi.org/10.1002/cncr.29027

    Article  PubMed  Google Scholar 

  • Amlashi SF, Riffaud L, Brassier G, Morandi X (2003) Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 98(3):618–624. https://doi.org/10.1002/cncr.11537

    Article  PubMed  Google Scholar 

  • Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lazaro C (2003) Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 40(6):e82

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR (2009) Neurofibromatosis type 2. Lancet 373(9679):1974–1986. https://doi.org/10.1016/S0140-6736(09)60259-2

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U (2014) Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer 50(5):987–996. https://doi.org/10.1016/j.ejca.2013.12.005

    Article  PubMed  Google Scholar 

  • Baser ME, Evans DG, Jackler RK, Sujansky E, Rubenstein A (2000) Neurofibromatosis 2, radiosurgery and malignant nervous system tumours. Br J Cancer 82(4):998. https://doi.org/10.1054/bjoc.1999.1030

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DG (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med 13(6):576–581. https://doi.org/10.1097/GIM.0b013e318211faa9

    Article  CAS  PubMed  Google Scholar 

  • Baumgartner JE, Sorenson JM (1996) Meningioma in the pediatric population. J Neuro-Oncol 29(3):223–228

    Article  CAS  Google Scholar 

  • Beddow RA, Smith M, Kidd A, Corbett R, Hunter AG (2011) Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour. Eur J Med Genet 54(3):295–298. https://doi.org/10.1016/j.ejmg.2010.12.007

    Article  CAS  PubMed  Google Scholar 

  • Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A (2008) 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82(1):214–221. https://doi.org/10.1016/j.ajhg.2007.09.014

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59(1):74–79

    CAS  PubMed  Google Scholar 

  • Bilaniuk LT, Molloy PT, Zimmerman RA, Phillips PC, Vaughan SN, Liu GT, Sutton LN, Needle M (1997) Neurofibromatosis type 1: brain stem tumours. Neuroradiology 39(9):642–653

    Article  CAS  PubMed  Google Scholar 

  • 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 (2013) Clustering of mutations in the 5′ tertile of the NF1 gene in Slovakia patients with optic pathway glioma. Neoplasma 60(6):655–665. https://doi.org/10.4149/neo_2013_084

    Article  CAS  PubMed  Google Scholar 

  • Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugieres L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaiti-Pellie C, Tinat J, Baert-Desurmont S, Frebourg T (2015) Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 33(21):2345–2352. https://doi.org/10.1200/JCO.2014.59.5728

    Article  CAS  PubMed  Google Scholar 

  • Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, Andre N, Stephan JL, Perel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Freneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O (2011) Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17(1):31–38. https://doi.org/10.1158/1078-0432.CCR-10-1795

    Article  PubMed  Google Scholar 

  • Bree AF, Shah MR, Group BC (2011) Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A 155A(9):2091–2097. https://doi.org/10.1002/ajmg.a.34128

    Article  PubMed  Google Scholar 

  • Brugieres L, Remenieras A, Pierron G, Varlet P, Forget S, Byrde V, Bombled J, Puget S, Caron O, Dufour C, Delattre O, Bressac-de Paillerets B, Grill J (2012) High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. J Clin Oncol 30(17):2087–2093. https://doi.org/10.1200/JCO.2011.38.7258

    Article  CAS  PubMed  Google Scholar 

  • Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Mugica M (2006) Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Clin Pract Oncol 3(10):575–580. https://doi.org/10.1038/ncponc0608

    Article  CAS  PubMed  Google Scholar 

  • Carter JM, O’Hara C, Dundas G, Gilchrist D, Collins MS, Eaton K, Judkins AR, Biegel JA, Folpe AL (2012) Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with “neuroblastoma-like” schwannomatosis and a novel germline SMARCB1 mutation. Am J Surg Pathol 36(1):154–160. https://doi.org/10.1097/PAS.0b013e3182380802

    Article  PubMed  PubMed Central  Google Scholar 

  • Chang L, El-Dairi MA, Frempong TA, Burner EL, Bhatti MT, Young TL, Leigh F (2010) Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas. J AAPOS 14(6):511–517. https://doi.org/10.1016/j.jaapos.2010.08.014

    Article  PubMed  Google Scholar 

  • Choi JW, Lee JY, Phi JH, Wang KC, Chung HT, Paek SH, Kim DG, Park SH, Kim SK (2014) Clinical course of vestibular schwannoma in pediatric neurofibromatosis type 2. J Neurosurg Pediatr 13(6):650–657. https://doi.org/10.3171/2014.3.PEDS13455

    Article  PubMed  Google Scholar 

  • Choudry Q, Patel HC, Gurusinghe NT, Evans DG (2007) Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst 23(1):133–136. https://doi.org/10.1007/s00381-006-0178-4

    Article  CAS  PubMed  Google Scholar 

  • Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG (1997) The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76(2):141–145

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Custodio G, Taques GR, Figueiredo BC, Gugelmin ES, Oliveira Figueiredo MM, Watanabe F, Pontarolo R, Lalli E, Torres LF (2011) Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoS One 6(3):e18015. https://doi.org/10.1371/journal.pone.0018015

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD (2014b) Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128(4):583–595. https://doi.org/10.1007/s00401-014-1318-7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD (2014a) Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol 128(1):111–122. https://doi.org/10.1007/s00401-014-1285-z

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Dunn IF, Agarwalla PK, Papanastassiou AM, Butler WE, Smith ER (2007) Multiple pilocytic astrocytomas of the cerebellum in a 17-year-old patient with neurofibromatosis type I. Childs Nerv Syst 23(10):1191–1194. https://doi.org/10.1007/s00381-007-0343-4

    Article  PubMed  Google Scholar 

  • Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U, International BC (2015) Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. Eur J Cancer 51(8):977–983. https://doi.org/10.1016/j.ejca.2015.02.008

    Article  CAS  PubMed  Google Scholar 

  • Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56(1):7–15. https://doi.org/10.1002/pbc.22831

    Article  PubMed  PubMed Central  Google Scholar 

  • European Chromosome 16 Tuberous Sclerosis C (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(7):1305–1315

    Article  Google Scholar 

  • Evans DG, Baser ME, O’Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19(1):5–12. https://doi.org/10.1080/02688690500081206

    Article  CAS  PubMed  Google Scholar 

  • Evans DG, Birch JM, Orton CI (1991) Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br J Neurosurg 5(6):643–646

    Article  CAS  PubMed  Google Scholar 

  • Evans DG, Birch JM, Ramsden RT (1999) Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81(6):496–499

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84(304):603–618

    CAS  PubMed  Google Scholar 

  • Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30(6):460–464

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Evans DG, Newton V, Neary W, Baser ME, Wallace A, Macleod R, Jenkins JP, Gillespie J, Ramsden RT (2000) Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2). J Med Genet 37(12):944–947

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Evans DG, Raymond FL, Barwell JG, Halliday D (2012) Genetic testing and screening of individuals at risk of NF2. Clin Genet 82(5):416–424. https://doi.org/10.1111/j.1399-0004.2011.01816.x

    Article  CAS  PubMed  Google Scholar 

  • Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S (2008) A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet 45(5):303–308. https://doi.org/10.1136/jmg.2007.055343

    Article  CAS  PubMed  Google Scholar 

  • Farrell CJ, Plotkin SR (2007) Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin 25(4):925–946., viii. https://doi.org/10.1016/j.ncl.2007.07.008

    Article  PubMed  Google Scholar 

  • Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44(2):81–88. https://doi.org/10.1136/jmg.2006.045906

    Article  CAS  PubMed  Google Scholar 

  • Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, Packer RJ, Tabori U, Hoffman RO, Ardern-Holmes SL, Hummel TR, Hargrave DR, Bouffet E, Charrow J, Bilaniuk LT, Balcer LJ, Liu GT (2012) Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro-Oncology 14(6):790–797. https://doi.org/10.1093/neuonc/nos076

    Article  PubMed  PubMed Central  Google Scholar 

  • Forest F, David A, Arrufat S, Pierron G, Ranchere-Vince D, Stephan JL, Clemenson A, Delattre O, Bourdeaut F (2012) Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations. Am J Surg Pathol 36(12):1892–1896. https://doi.org/10.1097/PAS.0b013e31826cbe7a

    Article  PubMed  Google Scholar 

  • Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14(10):662–672. https://doi.org/10.1038/nrc3802

    Article  CAS  PubMed  Google Scholar 

  • Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Berkowitz N, Anak O, Niolat J, Jozwiak S (2014) Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. Lancet Oncol 15(13):1513–1520. https://doi.org/10.1016/S1470-2045(14)70489-9

    Article  CAS  PubMed  Google Scholar 

  • Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Whittemore VH, Thiele EA, Ford JP, Shah G, Cauwel H, Lebwohl D, Sahmoud T, Jozwiak S (2013) Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 381(9861):125–132. https://doi.org/10.1016/S0140-6736(12)61134-9

    Article  CAS  PubMed  Google Scholar 

  • Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T (2013) Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Familial Cancer 12(4):611–614. https://doi.org/10.1007/s10689-013-9623-1

    Article  PubMed  Google Scholar 

  • Gajjar A, Pfister SM, Taylor MD, Gilbertson RJ (2014) Molecular insights into pediatric brain tumors have the potential to transform therapy. Clin Cancer Res 20(22):5630–5640. https://doi.org/10.1158/1078-0432.CCR-14-0833

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gajjar A, Stewart CF, Ellison DW, Kaste S, Kun LE, Packer RJ, Goldman S, Chintagumpala M, Wallace D, Takebe N, Boyett JM, Gilbertson RJ, Curran T (2013) Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: a pediatric brain tumor consortium study. Clin Cancer Res 19(22):6305–6312. https://doi.org/10.1158/1078-0432.CCR-13-1425

    Article  CAS  PubMed  Google Scholar 

  • Garre ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T (2009) Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. Clin Cancer Res 15(7):2463–2471. https://doi.org/10.1158/1078-0432.CCR-08-2023

    Article  PubMed  Google Scholar 

  • Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN (2009) Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27(8):1250–1256. https://doi.org/10.1200/JCO.2008.16.6959

    Article  CAS  PubMed  Google Scholar 

  • Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 262:908–912. https://doi.org/10.1056/NEJM196005052621803

    Article  CAS  PubMed  Google Scholar 

  • Grill J, Couanet D, Cappelli C, Habrand JL, Rodriguez D, Sainte-Rose C, Kalifa C (1999) Radiation-induced cerebral vasculopathy in children with neurofibromatosis and optic pathway glioma. Ann Neurol 45(3):393–396

    Article  CAS  PubMed  Google Scholar 

  • Gu S, Glaug N, Cnaan A, Packer RJ, Avery RA (2014) Ganglion cell layer-inner plexiform layer thickness and vision loss in young children with optic pathway gliomas. Invest Ophthalmol Vis Sci 55(3):1402–1408. https://doi.org/10.1167/iovs.13-13119

    Article  PubMed  PubMed Central  Google Scholar 

  • Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278(1):51–57

    Article  CAS  PubMed  Google Scholar 

  • Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG (2008) Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 45(6):332–339. https://doi.org/10.1136/jmg.2007.056499

    Article  CAS  PubMed  Google Scholar 

  • Hagel C, Stemmer-Rachamimov AO, Bornemann A, Schuhmann M, Nagel C, Huson S, Evans DG, Plotkin S, Matthies C, Kluwe L, Mautner VF (2012) Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas. Neuropathology 32(6):611–616. https://doi.org/10.1111/j.1440-1789.2012.01306.x

    Article  PubMed  Google Scholar 

  • Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85(6):841–851

    Article  CAS  PubMed  Google Scholar 

  • Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA (1991) Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet 49(4):764–772

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B et al (1995) The molecular basis of Turcot’s syndrome. N Engl J Med 332(13):839–847. https://doi.org/10.1056/NEJM199503303321302

    Article  CAS  PubMed  Google Scholar 

  • Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Fruhwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W (2011) Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 35(6):933–935. https://doi.org/10.1097/PAS.0b013e3182196a39

    Article  PubMed  Google Scholar 

  • Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schuller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Fruhwald MC, Schneppenheim R (2014) SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol 128(3):453–456. https://doi.org/10.1007/s00401-014-1323-x

    Article  PubMed  Google Scholar 

  • Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ (2009) DICER1 mutations in familial pleuropulmonary blastoma. Science 325(5943):965. https://doi.org/10.1126/science.1174334

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90(8):606–611

    Article  CAS  PubMed  Google Scholar 

  • Hulsebos TJ, Kenter S, Siebers-Renelt U, Hans V, Wesseling P, Flucke U (2014a) SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis. Am J Surg Pathol 38(3):421–425. https://doi.org/10.1097/PAS.0000000000000110

    Article  PubMed  Google Scholar 

  • Hulsebos TJ, Kenter S, Verhagen WI, Baas F, Flucke U, Wesseling P (2014b) Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. Acta Neuropathol 128(3):439–448. https://doi.org/10.1007/s00401-014-1281-3

    Article  CAS  PubMed  Google Scholar 

  • Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80(4):805–810. https://doi.org/10.1086/513207

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ (2010) Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer 54(7):890–896. https://doi.org/10.1002/pbc.22462

    Article  PubMed  Google Scholar 

  • Ingham PW, McMahon AP (2001) Hedgehog signaling in animal development: paradigms and principles. Genes Dev 15(23):3059–3087. https://doi.org/10.1101/gad.938601

    Article  CAS  PubMed  Google Scholar 

  • Inoki K, Guan KL (2009) Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum Mol Genet 18(R1):R94–R100. https://doi.org/10.1093/hmg/ddp032

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA (2007) High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet 122(2):117–127. https://doi.org/10.1007/s00439-007-0386-3

    Article  CAS  PubMed  Google Scholar 

  • Jiricny J (2006) The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 7(5):335–346. https://doi.org/10.1038/nrm1907

    Article  CAS  PubMed  Google Scholar 

  • Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272(5268):1668–1671

    Article  CAS  PubMed  Google Scholar 

  • Karajannis MA, Ferner RE (2015) Neurofibromatosis-related tumors: emerging biology and therapies. Curr Opin Pediatr 27(1):26–33. https://doi.org/10.1097/MOP.0000000000000169

    Article  PubMed  PubMed Central  Google Scholar 

  • Khong PL, Goh WH, Wong VC, Fung CW, Ooi GC (2003) MR imaging of spinal tumors in children with neurofibromatosis 1. AJR Am J Roentgenol 180(2):413–417. https://doi.org/10.2214/ajr.180.2.1800413

    Article  PubMed  Google Scholar 

  • Kim KH, Roberts CW (2014) Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. Cancer Genet 207(9):365–372. https://doi.org/10.1016/j.cancergen.2014.04.004

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69(3):299–308

    Article  CAS  PubMed  Google Scholar 

  • Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B (2004) Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 6 (6):495–502. doi:10.109701.GIM.0000145045.17711.1C

    Google Scholar 

  • King A, Listernick R, Charrow J, Piersall L, Gutmann DH (2003) Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A 122A(2):95–99. https://doi.org/10.1002/ajmg.a.20211

    Article  PubMed  Google Scholar 

  • Kool M, Jones DT, Jager N, Northcott PA, Pugh TJ, Hovestadt V, Piro RM, Esparza LA, Markant SL, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, Stark S, Hutter S, Seker-Cin H, Johann P, Bender S, Schmidt C, Rausch T, Shih D, Reimand J, Sieber L, Wittmann A, Linke L, Witt H, Weber UD, Zapatka M, Konig R, Beroukhim R, Bergthold G, van Sluis P, Volckmann R, Koster J, Versteeg R, Schmidt S, Wolf S, Lawerenz C, Bartholomae CC, von Kalle C, Unterberg A, Herold-Mende C, Hofer S, Kulozik AE, von Deimling A, Scheurlen W, Felsberg J, Reifenberger G, Hasselblatt M, Crawford JR, Grant GA, Jabado N, Perry A, Cowdrey C, Croul S, Zadeh G, Korbel JO, Doz F, Delattre O, Bader GD, McCabe MG, Collins VP, Kieran MW, Cho YJ, Pomeroy SL, Witt O, Brors B, Taylor MD, Schuller U, Korshunov A, Eils R, Wechsler-Reya RJ, Lichter P, Pfister SM, Project IPT (2014) Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25(3):393–405. https://doi.org/10.1016/j.ccr.2014.02.004

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Fruhwald MC (2014) Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). Pediatr Blood Cancer 61(5):919–921. https://doi.org/10.1002/pbc.24793

    Article  PubMed  Google Scholar 

  • Kordes U, Gesk S, Fruhwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R (2010) Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer 49(2):176–181. https://doi.org/10.1002/gcc.20729

    Article  CAS  PubMed  Google Scholar 

  • Kotecha RS, Pascoe EM, Rushing EJ, Rorke-Adams LB, Zwerdling T, Gao X, Li X, Greene S, Amirjamshidi A, Kim SK, Lima MA, Hung PC, Lakhdar F, Mehta N, Liu Y, Devi BI, Sudhir BJ, Lund-Johansen M, Gjerris F, Cole CH, Gottardo NG (2011) Meningiomas in children and adolescents: a meta-analysis of individual patient data. Lancet Oncol 12(13):1229–1239. https://doi.org/10.1016/S1470-2045(11)70275-3

    Article  PubMed  Google Scholar 

  • Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP (2009) Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am J Med Genet A 149A(12):2855–2859. https://doi.org/10.1002/ajmg.a.33119

    Article  PubMed  Google Scholar 

  • Leary SE, Zhou T, Holmes E, Geyer JR, Miller DC (2011) Histology predicts a favorable outcome in young children with desmoplastic medulloblastoma: a report from the Children’s Oncology Group. Cancer 117(14):3262–3267. https://doi.org/10.1002/cncr.25856

    Article  PubMed  Google Scholar 

  • Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358–5362

    CAS  PubMed  Google Scholar 

  • Li FP, Fraumeni JF Jr (1969) Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 43(6):1365–1373

    CAS  PubMed  Google Scholar 

  • Lin AL, Gutmann DH (2013) Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol 10(11):616–624. https://doi.org/10.1038/nrclinonc.2013.144

    Article  CAS  PubMed  Google Scholar 

  • Listernick R, Charrow J, Greenwald M, Mets M (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 125(1):63–66

    Article  CAS  PubMed  Google Scholar 

  • Listernick R, Ferner RE, Liu GT, Gutmann DH (2007) Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 61(3):189–198. https://doi.org/10.1002/ana.21107

    Article  CAS  PubMed  Google Scholar 

  • Listernick R, Ferner RE, Piersall L, Sharif S, Gutmann DH, Charrow J (2004) Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology 63(10):1944–1946

    Article  CAS  PubMed  Google Scholar 

  • Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348(10):919–932. https://doi.org/10.1056/NEJMra012242

    Article  CAS  PubMed  Google Scholar 

  • MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES (2005) Diagnostic criteria for schwannomatosis. Neurology 64(11):1838–1845. https://doi.org/10.1212/01.WNL.0000163982.78900.AD

    Article  CAS  PubMed  Google Scholar 

  • Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250(4985):1233–1238

    Article  CAS  PubMed  Google Scholar 

  • Martin LM, Marples B, Coffey M, Lawler M, Lynch TH, Hollywood D, Marignol L (2010) DNA mismatch repair and the DNA damage response to ionizing radiation: making sense of apparently conflicting data. Cancer Treat Rev 36(7):518–527. https://doi.org/10.1016/j.ctrv.2010.03.008

    Article  CAS  PubMed  Google Scholar 

  • Mautner VF, Nguyen R, Knecht R, Bokemeyer C (2010) Radiographic regression of vestibular schwannomas induced by bevacizumab treatment: sustain under continuous drug application and rebound after drug discontinuation. Ann Oncol 21(11):2294–2295. https://doi.org/10.1093/annonc/mdq566

    Article  PubMed  Google Scholar 

  • Medina PP, Sanchez-Cespedes M (2008) Involvement of the chromatin-remodeling factor BRG1/SMARCA4 in human cancer. Epigenetics 3(2):64–68

    Article  PubMed  Google Scholar 

  • Milstein JM, Geyer JR, Berger MS, Bleyer WA (1989) Favorable prognosis for brainstem gliomas in neurofibromatosis. J Neuro-Oncol 7(4):367–371

    Article  CAS  Google Scholar 

  • Molloy PT, Bilaniuk LT, Vaughan SN, Needle MN, Liu GT, Zackai EH, Phillips PC (1995) Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. Neurology 45(10):1897–1902

    Article  CAS  PubMed  Google Scholar 

  • Morgan JE, Wolfort F (1979) The early history of tuberous sclerosis. Arch Dermatol 115(11):1317–1319

    Article  CAS  PubMed  Google Scholar 

  • Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L (2012) Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A 158A(2):391–399. https://doi.org/10.1002/ajmg.a.34216

    Article  CAS  PubMed  Google Scholar 

  • Murray MJ, Bailey S, Raby KL, Saini HK, de Kock L, Burke GA, Foulkes WD, Enright AJ, Coleman N, Tischkowitz M (2014) Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. Oncogene 3:e87. https://doi.org/10.1038/oncsis.2014.1

    Article  CAS  Google Scholar 

  • National Institutes of Health Consensus Development Conference Statement: neurofibromatosis (1988) Neurofibromatosis, vol 1(3). Bethesda, MD, USA, July 13–15, 1987. p 172–178

    Google Scholar 

  • Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC (2015) Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neuro-Oncol 121(1):209–215. https://doi.org/10.1007/s11060-014-1629-5

    Article  Google Scholar 

  • North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB (1997) Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 cognitive disorders task force. Neurology 48(4):1121–1127

    Article  CAS  PubMed  Google Scholar 

  • Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus G (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):243–254. https://doi.org/10.1016/j.pediatrneurol.2013.08.001

    Article  PubMed  PubMed Central  Google Scholar 

  • Northrup H, Wheless JW, Bertin TK, Lewis RA (1993) Variability of expression in tuberous sclerosis. J Med Genet 30(1):41–43

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63(20):6643–6650

    CAS  PubMed  Google Scholar 

  • Perilongo G, Moras P, Carollo C, Battistella A, Clementi M, Laverda A, Murgia A (1999) Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility. J Child Neurol 14(6):352–356

    Article  CAS  PubMed  Google Scholar 

  • Pilling RF, Taylor RH (2010) Screening children with NF1 for optic pathway glioma--no. Eye 24(9):1432–1434. https://doi.org/10.1038/eye.2010.94

    Article  CAS  PubMed  Google Scholar 

  • Plotkin SR, Merker VL, Muzikansky A, Barker FG 2nd, Slattery W 3rd (2014) Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients. Otol Neurotol 35(1):e50–e56. https://doi.org/10.1097/MAO.0000000000000239

    Article  PubMed  Google Scholar 

  • Plotkin SR, O’Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP (2011) Spinal ependymomas in neurofibromatosis type 2: a retrospective analysis of 55 patients. J Neurosurg Spine 14(4):543–547. https://doi.org/10.3171/2010.11.SPINE10350

    Article  PubMed  Google Scholar 

  • Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E (2009) Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361(4):358–367. https://doi.org/10.1056/NEJMoa0902579

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pollack IF, Shultz B, Mulvihill JJ (1996) The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 46(6):1652–1660

    Article  CAS  PubMed  Google Scholar 

  • Raffel C, McComb JG, Bodner S, Gilles FE (1989) Benign brain stem lesions in pediatric patients with neurofibromatosis: case reports. Neurosurgery 25(6):959–964

    Article  CAS  PubMed  Google Scholar 

  • Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59(2):290–293

    CAS  PubMed  Google Scholar 

  • Robinson GW, Orr BA, Wu G, Gururangan S, Lin T, Qaddoumi I, Packer RJ, Goldman S, Prados MD, Desjardins A, Chintagumpala M, Takebe N, Kaste SC, Rusch M, Allen SJ, Onar-Thomas A, Stewart CF, Fouladi M, Boyett JM, Gilbertson RJ, Curran T, Ellison DW, Gajjar A (2015) Vismodegib exerts targeted efficacy against recurrent sonic hedgehog-subgroup Medulloblastoma: results from phase II Pediatric brain tumor consortium studies PBTC-025B and PBTC-032. J Clin Oncol 33(24):2646–2654. https://doi.org/10.1200/JCO.2014.60.1591

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ron E, Modan B, Boice JD Jr, Alfandary E, Stovall M, Chetrit A, Katz L (1988) Tumors of the brain and nervous system after radiotherapy in childhood. N Engl J Med 319(16):1033–1039. https://doi.org/10.1056/NEJM198810203191601

    Article  CAS  PubMed  Google Scholar 

  • Rosenfeld A, Listernick R, Charrow J, Goldman S (2010) Neurofibromatosis type 1 and high-grade tumors of the central nervous system. Childs Nerv Syst 26(5):663–667. https://doi.org/10.1007/s00381-009-1024-2

    Article  PubMed  Google Scholar 

  • Rosser TL, Vezina G, Packer RJ (2005) Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 64(3):553–555. https://doi.org/10.1212/01.WNL.0000150544.00016.69

    Article  PubMed  Google Scholar 

  • Roth J, Roach ES, Bartels U, Jozwiak S, Koenig MK, Weiner HL, Franz DN, Wang HZ (2013) Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the international tuberous sclerosis complex consensus conference 2012. Pediatr Neurol 49(6):439–444. https://doi.org/10.1016/j.pediatrneurol.2013.08.017

    Article  PubMed  Google Scholar 

  • Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B et al (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363(6429):515–521. https://doi.org/10.1038/363515a0

    Article  CAS  PubMed  Google Scholar 

  • Roussel MF, Hatten ME (2011) Cerebellum development and medulloblastoma. Curr Top Dev Biol 94:235–282. https://doi.org/10.1016/B978-0-12-380916-2.00008-5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rudin CM, Hann CL, Laterra J, Yauch RL, Callahan CA, Fu L, Holcomb T, Stinson J, Gould SE, Coleman B, LoRusso PM, Von Hoff DD, de Sauvage FJ, Low JA (2009) Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. N Engl J Med 361(12):1173–1178. https://doi.org/10.1056/NEJMoa0902903

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van’t Veer LJ (2010) TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47(6):421–428. https://doi.org/10.1136/jmg.2009.073429

    Article  CAS  PubMed  Google Scholar 

  • Rutkowski S, Bode U, Deinlein F, Ottensmeier H, Warmuth-Metz M, Soerensen N, Graf N, Emser A, Pietsch T, Wolff JE, Kortmann RD, Kuehl J (2005) Treatment of early childhood medulloblastoma by postoperative chemotherapy alone. N Engl J Med 352(10):978–986. https://doi.org/10.1056/NEJMoa042176

    Article  CAS  PubMed  Google Scholar 

  • Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD (2012) Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet 49(7):417–419. https://doi.org/10.1136/jmedgenet-2012-100898

    Article  CAS  PubMed  Google Scholar 

  • Sathyamoorthi S, Morales J, Bermudez J, McBride L, Luquette M, McGoey R, Oates N, Hales S, Biegel JA, Lacassie Y (2009) Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am J Med Genet A 149A(5):1067–1069. https://doi.org/10.1002/ajmg.a.32775

    Article  PubMed  PubMed Central  Google Scholar 

  • Satinoff MI, Wells C (1969) Multiple basal cell naevus syndrome in ancient Egypt. Med Hist 13(3):294–297

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Scheithauer BW, Kovacs K, Horvath E, Kim DS, Osamura RY, Ketterling RP, Lloyd RV, Kim OL (2008) Pituitary blastoma. Acta Neuropathol 116(6):657–666. https://doi.org/10.1007/s00401-008-0388-9

    Article  PubMed  Google Scholar 

  • Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R (2010) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86(2):279–284. https://doi.org/10.1016/j.ajhg.2010.01.013

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schultz KA, Yang J, Doros L, Williams GM, Harris A, Stewart DR, Messinger Y, Field A, Dehner LP, Hill DA (2014) Pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev 19(2):90–100. https://doi.org/10.1097/PCR.0000000000000027

    Article  PubMed  PubMed Central  Google Scholar 

  • Seidinger AL, Mastellaro MJ, Paschoal Fortes F, Godoy Assumpcao J, Aparecida Cardinalli I, Aparecida Ganazza M, Correa Ribeiro R, Brandalise SR, Dos Santos Aguiar S, Yunes JA (2011) Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil. Cancer 117(10):2228–2235. https://doi.org/10.1002/cncr.25826

    Article  CAS  PubMed  Google Scholar 

  • Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348. https://doi.org/10.1086/302639

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sharif S, Ferner R, Birch JM, Gillespie JE, Gattamaneni HR, Baser ME, Evans DG (2006) Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol 24(16):2570–2575. https://doi.org/10.1200/JCO.2005.03.8349

    Article  PubMed  Google Scholar 

  • Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG (2011) A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet 48(4):256–260. https://doi.org/10.1136/jmg.2010.081760

    Article  CAS  PubMed  Google Scholar 

  • Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Goksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U, Biallelic Mismatch Repair Deficiency C (2015) Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Genet 47 (3):257–262. doi:https://doi.org/10.1038/ng.3202

    Article  CAS  PubMed  Google Scholar 

  • Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Turnbull C, Priest JR, Pritchard-Jones K, Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N (2011) DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 48(4):273–278. https://doi.org/10.1136/jmg.2010.083790

    Article  CAS  PubMed  Google Scholar 

  • Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG (2014b) Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol 32(36):4155–4161. https://doi.org/10.1200/JCO.2014.58.2569

    Article  CAS  PubMed  Google Scholar 

  • Smith MJ, Wallace AJ, Bowers NL, Eaton H, Evans DG (2014a) SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. Cancer Genet 207(9):373–378. https://doi.org/10.1016/j.cancergen.2014.04.001

    Article  CAS  PubMed  Google Scholar 

  • Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B (2006) PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer 95(4):548–553. https://doi.org/10.1038/sj.bjc.6603303

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Spector LG, Pankratz N, Marcotte EL (2015) Genetic and nongenetic risk factors for childhood cancer. Pediatr Clin N Am 62(1):11–25. https://doi.org/10.1016/j.pcl.2014.09.013

    Article  Google Scholar 

  • Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A (1996) The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog. Nature 384(6605):129–134. https://doi.org/10.1038/384129a0

    Article  CAS  PubMed  Google Scholar 

  • Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS (2009) Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet 46(1):68–72. https://doi.org/10.1136/jmg.2008.060152

    Article  CAS  PubMed  Google Scholar 

  • Tabori U, Shlien A, Baskin B, Levitt S, Ray P, Alon N, Hawkins C, Bouffet E, Pienkowska M, Lafay-Cousin L, Gozali A, Zhukova N, Shane L, Gonzalez I, Finlay J, Malkin D (2010) TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol 28(12):1995–2001. https://doi.org/10.1200/JCO.2009.26.8169

    Article  CAS  PubMed  Google Scholar 

  • Tang JY, Mackay-Wiggan JM, Aszterbaum M, Yauch RL, Lindgren J, Chang K, Coppola C, Chanana AM, Marji J, Bickers DR, Epstein EH Jr (2012) Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. N Engl J Med 366(23):2180–2188. https://doi.org/10.1056/NEJMoa1113538

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT (2000) Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet 66(4):1403–1406. https://doi.org/10.1086/302833

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D (2002) Mutations in SUFU predispose to medulloblastoma. Nat Genet 31(3):306–310. https://doi.org/10.1038/ng916

    Article  CAS  PubMed  Google Scholar 

  • Teplick A, Kowalski M, Biegel JA, Nichols KE (2011) Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr 170(3):285–294. https://doi.org/10.1007/s00431-010-1377-2

    Article  PubMed  PubMed Central  Google Scholar 

  • Testa JR, Malkin D, Schiffman JD (2013) Connecting molecular pathways to hereditary cancer risk syndromes. Am Soc Clin Oncol Educ Book 33:81–90. https://doi.org/10.1200/EdBook_AM.2013.33.81

    Article  Google Scholar 

  • Thiagalingam S, Flaherty M, Billson F, North K (2004) Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology 111(3):568–577. https://doi.org/10.1016/j.ophtha.2003.06.008

    Article  PubMed  Google Scholar 

  • Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27(26):e108–e109.; author reply e110. https://doi.org/10.1200/JCO.2009.22.7967

    Article  PubMed  Google Scholar 

  • Toth G, Zraly CB, Thomson TL, Jones C, Lapetino S, Muraskas J, Zhang J, Dingwall AK (2011) Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor. Genes Chromosomes Cancer 50(6):379–388. https://doi.org/10.1002/gcc.20862

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Turcot J, Despres JP, St Pierre F (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2:465–468

    Article  CAS  PubMed  Google Scholar 

  • van den Munckhof P, Christiaans I, Kenter SB, Baas F, Hulsebos TJ (2012) Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. Neurogenetics 13(1):1–7. https://doi.org/10.1007/s10048-011-0300-y

    Article  CAS  PubMed  Google Scholar 

  • Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K, CMMR-D EU-CCf (2014) Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European consortium “care for CMMR-D” (C4CMMR-D). J Med Genet 51(5):283–293. https://doi.org/10.1136/jmedgenet-2013-102238

    Article  CAS  PubMed  Google Scholar 

  • Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394(6689):203–206. https://doi.org/10.1038/28212

    Article  CAS  PubMed  Google Scholar 

  • Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12(6):559–567. https://doi.org/10.1016/S1470-2045(11)70119-X

    Article  CAS  PubMed  Google Scholar 

  • Von Hoff DD, LoRusso PM, Rudin CM, Reddy JC, Yauch RL, Tibes R, Weiss GJ, Borad MJ, Hann CL, Brahmer JR, Mackey HM, Lum BL, Darbonne WC, Marsters JC Jr, de Sauvage FJ, Low JA (2009) Inhibition of the hedgehog pathway in advanced basal-cell carcinoma. N Engl J Med 361(12):1164–1172. https://doi.org/10.1056/NEJMoa0905360

    Article  Google Scholar 

  • Vortmeyer AO, Stavrou T, Selby D, Li G, Weil RJ, Park WS, Moon YW, Chandra R, Goldstein AM, Zhuang Z (1999) Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma. Cancer 85(12):2662–2667

    Article  CAS  PubMed  Google Scholar 

  • Walter AW, Pivnick EK, Bale AE, Kun LE (1997) Complications of the nevoid basal cell carcinoma syndrome: a case report. J Pediatr Hematol Oncol 19(3):258–262

    Article  CAS  PubMed  Google Scholar 

  • Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 59(2):294–297

    CAS  PubMed  Google Scholar 

  • Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60(1):21–26

    CAS  PubMed  PubMed Central  Google Scholar 

  • Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11(7):481–492. https://doi.org/10.1038/nrc3068

    Article  CAS  PubMed  Google Scholar 

  • Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L, CMMRD EU-CCf (2014) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet 51(6):355–365. https://doi.org/10.1136/jmedgenet-2014-102284

    Article  CAS  PubMed  Google Scholar 

  • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsague E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD (2014) Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 46(5):438–443. https://doi.org/10.1038/ng.2931

    Article  CAS  PubMed  Google Scholar 

  • Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schonberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD (2013) Familial rhabdoid tumour ‘avant la lettre’--from pathology review to exome sequencing and back again. J Pathol 231(1):35–43. https://doi.org/10.1002/path.4225

    Article  CAS  PubMed  Google Scholar 

  • Zhukova N, Ramaswamy V, Remke M, Pfaff E, Shih DJ, Martin DC, Castelo-Branco P, Baskin B, Ray PN, Bouffet E, von Bueren AO, Jones DT, Northcott PA, Kool M, Sturm D, Pugh TJ, Pomeroy SL, Cho YJ, Pietsch T, Gessi M, Rutkowski S, Bognar L, Klekner A, Cho BK, Kim SK, Wang KC, Eberhart CG, Fevre-Montange M, Fouladi M, French PJ, Kros M, Grajkowska WA, Gupta N, Weiss WA, Hauser P, Jabado N, Jouvet A, Jung S, Kumabe T, Lach B, Leonard JR, Rubin JB, Liau LM, Massimi L, Pollack IF, Shin Ra Y, Van Meir EG, Zitterbart K, Schuller U, Hill RM, Lindsey JC, Schwalbe EC, Bailey S, Ellison DW, Hawkins C, Malkin D, Clifford SC, Korshunov A, Pfister S, Taylor MD, Tabori U (2013) Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. J Clin Oncol 31(23):2927–2935. https://doi.org/10.1200/JCO.2012.48.5052

    Article  PubMed  PubMed Central  Google Scholar 

  • Zilfou JT, Lowe SW (2009) Tumor suppressive functions of p53. Cold Spring Harb Perspect Biol 1(5):a001883. https://doi.org/10.1101/cshperspect.a001883

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, USA

    Alberto Broniscer M.D., M.S. & Kim Nichols

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  1. Alberto Broniscer M.D., M.S.
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  1. Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, USA

    Amar Gajjar

  2. Children’s National Medical Center, George Washington University, Silver Spring, WA, USA

    Gregory H. Reaman

  3. Cincinnati, OH, USA

    Judy M. Racadio

  4. Medpace, Cincinnati, OH, USA

    Franklin O. Smith

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Broniscer, A., Nichols, K. (2018). Predisposition Syndromes to Central Nervous System Cancers. In: Gajjar, A., Reaman, G., Racadio, J., Smith, F. (eds) Brain Tumors in Children. Springer, Cham. https://doi.org/10.1007/978-3-319-43205-2_5

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