Abstract
The familial cancer syndromes are disorders in which inheritance of genetic mutations results in a predisposition to develop tumors, both benign and malignant, in more than one organ system and often at an earlier age of onset. In this chapter, we outline those syndromes in which involvement of the central nervous system is a key component. Advances in the field of genomics have enhanced our understanding of the underlying causative mutations that give rise to these conditions. In some cases, systemic therapies capable of treating more than one clinical feature within the disease phenotype have been developed. It is hoped that in years to come, more such therapies will become available and reduce the disease burden associated with these conditions. Although the genetics and clinical phenotype of these syndromes differ, their management shares common features such as the need for genetic counseling, lifelong screening, and early treatment of arising cancers. Treatment protocols for these patients have rather unique considerations such as that of prophylactic surgery in order to reduce cancer incidence and the avoidance of radiotherapy to prevent a further increase in cancer risk. Due to their rarity, affected patients are best managed in specialist centers within multidisciplinary teams.
This is a preview of subscription content, log in via an institution to check access.
References
Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S (2016) Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. Clin Ophthalmol 10:851–860. https://doi.org/10.2147/OPTH.S102830
Alshail E, Rutka JT, Becker LE, Hoffman HJ (1997) Optic chiasmatic-hypothalamic glioma. Brain Pathol 7:799–806
Amayiri N, Tabori U, Campbell B, Bakry D, Aronson M, Durno C, Rakopoulos P, Malkin D, Qaddoumi I, Musharbash A, Swaidan M, Bouffet E, Hawkins C, Al-Hussaini M, BMMRD Consortium (2016) High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan. Int J Cancer 138:380–385. https://doi.org/10.1002/ijc.29724
Ardern-Holmes SL, North KN (2011) Therapeutics for childhood neurofibromatosis type 1 and type 2 opinion statement. Curr Treat Options Neurol 13:529–543. https://doi.org/10.1007/s11940-011-0142-9
Arya R, Tenney JR, Horn PS, Greiner HM, Holland KD, Leach JL, Gelfand MJ, Rozhkov L, Fujiwara H, Rose DF, Franz DN, Mangano FT (2015) Long-term outcomes of resective epilepsy surgery after invasive presurgical evaluation in children with tuberous sclerosis complex and bilateral multiple lesions. J Neurosurg Pediatr 15:26–33. https://doi.org/10.3171/2014.10.PEDS14107
Asthagiri AR, Mehta GU, Zach L, Li X, Butman JA, Camphausen KA, Lonser RR (2010) Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. Neuro-Oncology 12:80–86. https://doi.org/10.1093/neuonc/nop018
Atar M, Kö Rperich EJ (2010) Systemic disorders and their influence on the development of dental hard tissues: a literature review. J Dent 38:296–306. https://doi.org/10.1016/j.jdent.2009.12.001
Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AHJT, Dutch Lynch Syndrome Study Group, Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, La Chapelle DA, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA (2010) Risks of lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 102:193–201. https://doi.org/10.1093/jnci/djp473
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 50:987–996. https://doi.org/10.1016/j.ejca.2013.12.005
Barontini M, Dahia PLM (2010) VHL disease. Best Pract Res Clin Endocrinol Metab 24:401–413. https://doi.org/10.1016/j.beem.2010.01.002
Barontini M, Levin G, Sanso G (2006) Characteristics of pheochromocytoma in a 4- to 20-year-old population. Ann N Y Acad Sci 1073:30–37. https://doi.org/10.1196/annals.1353.003
Ben-Skowronek I, Kozaczuk S (2015) Von Hippel-Lindau syndrome. Horm Res Paediatr 84:145–152. https://doi.org/10.1159/000431323
Bien E, Stachowicz-Stencel T, Sierota D, Polczynska K, Szolkiewicz A, Stefanowicz J, Adamkiewicz-Drozynska E, Czauderna P, Kosiak W, Dubaniewicz-Wybieralska M, Izycka-Swieszewska E, Balcerska A (2007) Sarcomas in children with neurofibromatosis type 1 – poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution. Childs Nerv Syst 23(10):1147–1153. https://doi.org/10.1007/s00381-007-0392-8
Billiet T, Mädler B, D’Arco F, Peeters R, Deprez S, Plasschaert E, Leemans A, Zhang H, Van den Bergh B, Vandenbulcke M, Legius E, Sunaert S, Emsell L (2014) Characterizing the microstructural basis of unidentified bright objects? In neurofibromatosis type 1: a combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin 4:649–658. https://doi.org/10.1016/j.nicl.2014.04.005 Elsevier
Binderup MLM, Bisgaard M-L, Harbud V, Møller HU, Gimsing S, Friis-Hansen L, Hansen TVO, Bagi P, Knigge U, Kosteljanetz M, Bøgeskov L, Thomsen C, Gerdes A-M, Ousager LB, Sunde L, Danish VHL, Coordination Group (2013) Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. Dan Med J 60:B4763
Bissada NK, Safwat AS, Seyam RM, Al Sobhi S, Hanash KA, Jackson RJ, Sakati N, Bissada MA (2008) Pheochromocytoma in children and adolescents: a clinical spectrum. J Pediatr Surg 43(3):540–543. https://doi.org/10.1016/j.jpedsurg.2007.10.038
Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Frost M, Belousova E, Sauter M, Nonomura N, Brakemeier S, de Vries PJ, Whittemore VH, Chen D, Sahmoud T, Shah G, Lincy J, Lebwohl D, Budde K (2013) Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 381:817–824. https://doi.org/10.1016/S0140-6736(12)61767-X
Blansfield JA, Choyke L, Morita SY, Choyke PL, Pingpank JF, Alexander HR, Seidel G, Shutack Y, Yuldasheva N, Eugeni M, Bartlett DL, Glenn GM, Middelton L, Linehan WM, Libutti SK (2007) Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs). Surgery 142:814–818.e2. https://doi.org/10.1016/j.surg.2007.09.012
Bouffet E, Larouche V, Campbell BB, Merico D, de Borja R, Aronson M, Durno C, Krueger J, Cabric V, Ramaswamy V, Zhukova N, Mason G, Farah R, Afzal S, Yalon M, Rechavi G, Magimairajan V, Walsh MF, Constantini S, Dvir R, Elhasid R, Reddy A, Osborn M, Sullivan M, Hansford J, Dodgshun A, Klauber-Demore N, Peterson L, Patel S, Lindhorst S, Atkinson J, Cohen Z, Laframboise R, Dirks P, Taylor M, Malkin D, Albrecht S, Dudley RWR, Jabado N, Hawkins CE, Shlien A, Tabori U (2016) Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 34:2206–2211. https://doi.org/10.1200/JCO.2016.66.6552
Boyd KP, Korf BR, Theos A, Birmingham A (2009) Neurofibromatosis type 1. J Am Acad Dermatol 61:1–14. https://doi.org/10.1016/j.jaad.2008.12.051
Bree AF, Shah MR, BCNS Colloquium Group (2011) Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet Part A 155:2091–2097
Brems H, Beert E, De Ravel T, Legius E (2009) Mechanisms in the pathogenesis of malignant tumors in neurofibromatosis type 1. Lancet Oncol 10:508–515. https://doi.org/10.1016/S1470-2045(09)70033-6
Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O’Brian Smith E, Ellis KJ, Lee B (2008) Generalized metabolic bone disease in neurofibromatosis type I. Mol Genet Metab 94:105–111. https://doi.org/10.1016/j.ymgme.2007.12.004
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker J-P, Bonneau D, Sevenet N, Longy M, Caux F, French Cowden Disease Network (2013) High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 50:255–263. https://doi.org/10.1136/jmedgenet-2012-101339
Burn J, Gerdes A-M, Macrae F, Mecklin J-P, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard M-L, Dunlop MG, JWC H, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJW, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT, CAPP2 Investigators (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378:2081–2087. https://doi.org/10.1016/S0140-6736(11)61049-0
Campen CJ, Porter BE (2011) Subependymal giant cell astrocytoma (SEGA) treatment update. Curr Treat Options Neurol 13:380–385. https://doi.org/10.1007/s11940-011-0123-z
Campos FG (2014) Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations. WJG 20:16620–16611. https://doi.org/10.3748/wjg.v20.i44.16620
Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O’connell P, White R (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193–201
Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ (2000) Molecular genetic advances in tuberous sclerosis. Hum Genet 107:97–114
Chen Y-H, Gianino SM, Gutmann DH (2015) Neurofibromatosis-1 regulation of neural stem cell proliferation and multilineage differentiation operates through distinct RAS effector pathways. Genes Dev 29:1677–1682. https://doi.org/10.1101/gad.261677.115
Chittiboina P, Lonser RR (2015) Von Hippel-Lindau disease. Handb Clin Neurol 132:139–156
Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372:657–668. https://doi.org/10.1016/S0140-6736(08)61279-9
Curatolo P, Jó Zwiak S, Nabbout R (2012) Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations on behalf of the participants of the TSC consensus meeting for SEGA and epilepsy management d. Eur J Paediatr Neurol 16:582–586. https://doi.org/10.1016/j.ejpn.2012.05.004
Curatolo P, Moavero R, de Vries PJ (2015) Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 14:733–745. https://doi.org/10.1016/S1474-4422(15)00069-1
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy Y-S, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80
Dasgupta B, Gutmann DH (2005) Neurofibromin regulates neural stem cell proliferation, survival, and astroglial differentiation in vitro and in vivo. J Neurosci 25:5584–5594. https://doi.org/10.1523/JNEUROSCI.4693-04.2005
Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8:415–428
de la Chapelle A (2005) The incidence of Lynch syndrome. Fam Cancer 4:233–237. https://doi.org/10.1007/s10689-004-5811-3
DeBella K, Szudek J, Friedman JM (2000) Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Paediatrics 105(3 Pt 1):608–614
DiMario FJ (2004) Brain abnormalities in tuberous sclerosis complex. J Child Neurol 19:650–657
DiPaolo DP, Zimmerman RA, Rorke LB, Zackai EH, Bilaniuk LT, Yachnis AT (1995) Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 195:721–724. https://doi.org/10.1148/radiology.195.3.7754001
Dixon BP, Hulbert JC, Bissler JJ (2011) Tuberous sclerosis complex renal disease. Nephron Exp Nephrol 118:e15–e20. https://doi.org/10.1159/000320891
Durno CA, Holter S, Sherman PM, Gallinger S (2010) The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol 105:2449–2456. https://doi.org/10.1038/ajg.2010.215
Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U, Consortium IB (2015) Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. Eur J Cancer 51:977–983. https://doi.org/10.1016/j.ejca.2015.02.008
Eisenhofer G, Walther MM, Huynh T-T, Li S-T, Bornstein SR, Vortmeyer A, Mannelli M, Goldstein DS, Linehan WM, Lenders JWM, Pacak K (2001) Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 86:1999–2008. https://doi.org/10.1210/jcem.86.5.7496
Evans DGR (2005) Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms. J Med Genet 42:630–632. https://doi.org/10.1136/jmg.2004.027953
Evans DGR (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16–11. https://doi.org/10.1186/1750-1172-4-16
Evans DGR, 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
Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A:327–332. https://doi.org/10.1002/ajmg.a.33139
Feldman DS, Jordan C, Fonseca L (2010) Orthopaedic manifestations of neurofibromatosis type 1. J Am Acad Orthop Surg 18:346–357
Ferner RE, Gutmann DH (2002) International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 62:1573–1577
Ferner RE, Lucas JD, O’Doherty MJ, Hughes RA, Smith MA, Cronin BF, Bingham J (2000) Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumors arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry 68:353–357. https://doi.org/10.1136/jnnp.68.3.353
Ferraz-Filho JRL, da Rocha AJ, Muniz MP, Souza AS, Goloni-Bertollo EM, ÉC P-B (2012) Unidentified bright objects in neurofibromatosis type 1: conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images. Eur J Paediatr Neurol 16:42–47. https://doi.org/10.1016/j.ejpn.2011.10.002
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
Franz DN (2004) Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol 19(9):690–698
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 381:125–132. https://doi.org/10.1016/S0140-6736(12)61134-9
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 15:1513–1520. https://doi.org/10.1016/S1470-2045(14)70489-9
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, Franz D et al (2016) Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet 388:2153–2163. https://doi.org/10.1016/S0140-6736(16)31419-2
Friedman J (1993) Neurofibromatosis 1. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews. University of Washington, Seattle
Friedrich RE, Stelljes C, Hagel C, Giese M, Scheuer HA (2010) Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res 30:1751–1764
Galasso C, Lo-Castro A, Di Carlo L, Pitzianti MB, D’Agati E, Curatolo P, Pasini A (2014) Planning deficit in children with neurofibromatosis type 1: a neurocognitive trait independent from attention-deficit hyperactivity disorder (ADHD)? J Child Neurol 29:1320–1326. https://doi.org/10.1177/0883073813517001
Gammon A, Jasperson K, Champine M (2016) Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. TACG 9:83–92. https://doi.org/10.2147/TACG.S41947
Garber JE (2005) Hereditary cancer predisposition syndromes. J Clin Oncol 23:276–292. https://doi.org/10.1200/JCO.2005.10.042
Gettinger SN, Horn L, Gandhi L, Spigel DR, Antonia SJ, Rizvi NA, Powderly JD, Heist RS, Carvajal RD, Jackman DM, Sequist LV, Smith DC, Leming P, Carbone DP, Pinder-Schenck MC, Topalian SL, Hodi FS, Sosman JA, Sznol M, McDermott DF, Pardoll DM, Sankar V, Ahlers CM, Salvati M, Wigginton JM, Hellmann MD, Kollia GD, Gupta AK, Brahmer JR (2015) Overall survival and long-term safety of Nivolumab (anti-programmed death 1 antibody, BMS-936558, ONO-4538) in patients with previously treated advanced non-small-cell lung cancer. J Clin Oncol 33:2004–2012. https://doi.org/10.1200/JCO.2014.58.3708
Giacomazzi CR, Giacomazzi J, Netto CBO, Santos-Silva P, Selistre SG, Maia AL, de Oliveira VZ, Camey SA, Goldim JR, Ashton-Prolla P (2015) Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician. Rev Assoc Med Bras 61:282–289. https://doi.org/10.1590/1806-9282.61.03.282
Goodden J, Pizer B, Pettorini B, Williams D, Blair J, Didi M, Thorp N, Mallucci C (2014) The role of surgery in optic pathway/hypothalamic gliomas in children. J Neurosurg Pediatr 13:1–12. https://doi.org/10.3171/2013.8.PEDS12546
Gorovoy IR, de Alba Campomanes A (2014) A potential life-saving diagnosis-recognizing Turcot syndrome. J AAPOS 18:186–188. https://doi.org/10.1016/j.jaapos.2013.09.018
Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B (1995) The molecular basis of Turcot’s syndrome. N Engl J Med 332:839–847. https://doi.org/10.1056/NEJM199503303321302
Hersh JH, American Academy of Pediatrics Committee on Genetics C (2008) Health supervision for children with neurofibromatosis. Pediatrics 121:633–642. https://doi.org/10.1542/peds.2007-3364
Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc 3:e001493–e001493. https://doi.org/10.1161/JAHA.114.001493
Hirbe AC, Gutmann DH (2014) Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 13:834–843. https://doi.org/10.1016/S1474-4422(14)70063-8
Hobert JA, Eng C (2009) PTEN hamartoma tumor syndrome: an overview. Genet Med 11(10):687–694. https://doi.org/10.1097/GIM.0b013e3181ac9aea.
Hofstra RMW (2016) Review: clinical aspects of hereditary DNA mismatch repair gene mutations. DNA Repair 38:155–162. https://doi.org/10.1016/j.dnarep.2015.11.018
Hofstra RMW, Spurdle AB, Eccles D, Foulkes WD, de Wind N, Hoogerbrugge N, Hogervorst FBL, IARC Unclassified Genetic Variants Working Group (2008) Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. Hum Mutat 29:1292–1303. https://doi.org/10.1002/humu.20894
Hogan RE, Tress B, Gonzales MF, King JO, Cook MJ (1996) Epilepsy in the nevoid basal-cell carcinoma syndrome (Gorlin syndrome): report of a case due to a focal neuronal heterotopia. Neurology 46:574–576
Hyman SL, Gill DS, Shores EA, Steinberg A, North KN (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 78:1088–1091. https://doi.org/10.1136/jnnp.2006.108134
Jabbour SA, Davidovici BB, Wolf R (2006) Rare syndromes. Clin Dermatol 24(4):299–316
Jett K, Friedman JM (2010) Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12:1–11. https://doi.org/10.1097/GIM.0b013e3181bf15e3
Joly D, Méjean A, Corréas J-M, Timsit M-O, Verkarre V, Deveaux S, Landais P, Grünfeld J-P, Richard S (2011) Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease. J Urol 185:2056–2060. https://doi.org/10.1016/j.juro.2011.02.007
Józwiak S, Schwartz RA, Janniger CK, Bielicka-Cymerman J (2000) Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 15:652–659
Kaelin WG (2007) Von Hippel-Lindau disease. Annu Rev Pathol Mech Dis 2:145–173. https://doi.org/10.1146/annurev.pathol.2.010506.092049
Karajannis MA, Ferner RE (2015) Neurofibromatosis-related tumors. Curr Opin Pediatr 27:26–33. https://doi.org/10.1097/MOP.0000000000000169
Kim H, Yi JH, Kwon HJ, Lee CS, Lee SC (2014) Therapeutic outcomes of retinal hemangioblastomas. Retina 34:2479–2486. https://doi.org/10.1097/IAE.0000000000000254
Konstantopoulou I, Pertesi M, Fostira F, Grivas A, Yannoukakos D (2009) Hereditary cancer predisposition syndromes and preimplantation genetic diagnosis: where are we now? J BUON 14(Suppl 1):S187–S192
Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ (2007) Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 121:389–400. https://doi.org/10.1007/s00439-006-0308-9
Krab LC, Aarsen FK, de Goede-Bolder A, Catsman-Berrevoets CE, Arts WF, Moll HA, Elgersma Y (2008) Impact of neurofibromatosis type 1 on school performance. J Child Neurol 23:1002–1010. https://doi.org/10.1177/0883073808316366
Krueger DA, Northrup H (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49:255–265. https://doi.org/10.1016/j.pediatrneurol.2013.08.002
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317–1320
Lefebvre M, Foulkes WD (2014) Pheochromocytoma and paraganglioma syndromes: genetics and management update. Curr Oncol 21:8–10. https://doi.org/10.3747/co.21.1579
Leung AKC (2007) Tuberous sclerosis complex: a review. J Pediatr Heal Care 21:108–114. https://doi.org/10.1016/j.pedhc.2006.05.004
Li D, Marchenko ND, Moll UM (2011) SAHA shows preferential cytotoxicity in mutant p53 cancer cells by destabilizing mutant p53 through inhibition of the HDAC6-Hsp90 chaperone axis. Cell Death Differ 18:1904–1913. https://doi.org/10.1038/cdd.2011.71
Ligtenberg MJL, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TYH, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJB, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JHJM, Leung SY, Hoogerbrugge N (2009) Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Publ Group 41:112–117. https://doi.org/10.1038/ng.283
Lin AL, Gutmann DH (2013) Advances in the treatment of neurofibromatosis-associated tumors. Nat Rev Clin Oncol 10:616–624. https://doi.org/10.1038/nrclinonc.2013.144
Listernick R, Ferner RE, Liu GT, Gutmann DH (2007) Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 61:189–198. https://doi.org/10.1002/ana.21107
Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (2003) Von Hippel-Lindau disease. Lancet 361:2059–2067. https://doi.org/10.1016/S0140-6736(03)13643-4
Lorenzo J, Barton B, Acosta MT, North K (2011) Mental, motor, and language development of toddlers with neurofibromatosis type 1. J Pediatr 158:660–665
Luat AF, Makki M, Chugani HT (2007) Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol 20:142–150. https://doi.org/10.1097/WCO.0b013e3280895d93
Maher ER, Neumann HP, Richard S (2011) Von Hippel–Lindau disease: a clinical and scientific review. Eur J Hum Genet 19:617–623. https://doi.org/10.1038/ejhg.2010.175
Major P, Rakowski S, Simon MV, Cheng ML, Eskandar E, Baron J, Leeman BA, Frosch MP, Thiele EA (2009) Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia 50(1):147–154. https://doi.org/10.1111/j.1528-1167.2008.01814
Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238
Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, Jalel MT, Turki H (2011) Cowden syndrome. J Dermatol Case Rep 5:1–6. https://doi.org/10.3315/jdcr.2011.1063
Matsui I, Tanimura M, Kobayashi N, Sawada T, Nagahara N, Akatsuka J (1993) Neurofibromatosis type 1 and childhood cancer. Cancer 72:2746–2754
Matsumoto H, Minami H, Yoshida Y (2014) Lhermitte-Duclos disease treated surgically in an elderly patient: case report and literature review. Turk Neurosurg 25(5):783–787
Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J (1997) Skin abnormalities in neurofibromatosis 2. Arch Dermatol 133:1539–1543
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee H-S, Krischer JP, Trapnell BC, National Institutes of Health Rare Lung Diseases Consortium, MILES Trial Group (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 364:1595–1606. https://doi.org/10.1056/NEJMoa1100391
Merino D, Malkin D (2014) P53 and hereditary cancer. In: Deb SP, Deb S (eds) Mutant p53 and MDM2 in cancer. Springer, Dordrecht, pp 1–16
Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541–555. https://doi.org/10.1002/1098-1004(200006)15:6<541:AID-HUMU6>3.0.CO;2-N
Mester J, Eng C (2012) Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 14:819–822. https://doi.org/10.1038/gim.2012.51
Muller PAJ, Vousden KH (2013) P53 mutations in cancer. Nat Cell Biol 15:2–8. https://doi.org/10.1038/ncb2641
Napolioni V, Moavero R, Curatolo P (2009) Recent advances in neurobiology of tuberous sclerosis complex. Brain Dev 31:104–113. https://doi.org/10.1016/j.braindev.2008.09.013
Narayanan V (2003) Tuberous sclerosis complex: genetics to pathogenesis. Pathog Pediatr Neurol 29:404–409. https://doi.org/10.1016/j.pediatrneurol.2003.09.002
Ng KH, Ng SM, Parker A (2015) Annual review of children with tuberous sclerosis. Arch Dis Child Educ Pract Ed 100:114–121. https://doi.org/10.1136/archdischild-2013-304948
Nguyen R, Kluwe L, Fuensterer C, Kentsch M, Friedrich RE, Mautner V-F (2011) Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr 159:652–655.e2. https://doi.org/10.1016/j.jpeds.2011.04.008
Northrup H, Krueger DA (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49:243–254. https://doi.org/10.1016/j.pediatrneurol.2013.08.001
Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER (2007) Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat 28:143–149. https://doi.org/10.1002/humu.20385
Orloff MS, Eng C (2008) Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene 27:5387–5397. https://doi.org/10.1038/onc.2008.237
Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Friedman JM (1993) Neurofibromatosis 1. In: Adam MP, Ardinger HH, Pagon RA et al (eds) . University of Washington, Seattle, WA
Patil S, Chamberlain RS (2012) Neoplasms associated with Germline and Somatic NF1 Gene Mutations. Oncologist 17(1):101–116
Péron S, Metin A, Gardès P, Alyanakian M-A, Sheridan E, Kratz CP, Fischer A, Durandy A (2008) Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med 205:2465–2472. https://doi.org/10.1084/jem.20080789
Petrikovsky BM, Bialer MG, McLaughlin JA, Bale AE (1996) Sonographic and DNA-based prenatal detection of Gorlin syndrome. J Ultrasound Med 15:493–495
Pilarski R (2008) Cowden syndrome: a critical review of the clinical literature. J Genet Couns 18:13–27. https://doi.org/10.1007/s10897-008-9187-7
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Instit 105:1607–1616. https://doi.org/10.1093/jnci/djt277
Pino LC, Balassiano LK, Sessim M, de Almeida AP, Empinotti VD, Semenovitch I, Treu C, Lupi O (2016) Basal cell nevus syndrome: clinical and molecular review and case report. Int J Dermatol 55:367–375. https://doi.org/10.1111/ijd.12993
Piñol V, Castells A, Andreu M, CastellvÃ-Bel S, Alenda C, Llor X, Xicola RM, RodrÃguez-Moranta F, Payá A, Jover R, Bessa X, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association (2005) Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293:1986–1994. https://doi.org/10.1001/jama.293.16.1986
Postow MA, Chesney J, Pavlick AC, Robert C, Grossmann K, McDermott D, Linette GP, Meyer N, Giguere JK, Agarwala SS, Shaheen M, Ernstoff MS, Minor D, Salama AK, Taylor M, Ott PA, Rollin LM, Horak C, Gagnier P, Wolchok JD, Hodi FS (2015) Nivolumab and Ipilimumab versus Ipilimumab in Untreated Melanoma. N Engl J Med 372:2006–2017. https://doi.org/10.1056/NEJMoa1414428
Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G (2007) Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 16:387–407
Rakowski SK, Winterkorn EB, Paul E, Steele DJR, Halpern EF, Thiele EA (2006) Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 70:1777–1782. https://doi.org/10.1038/sj.ki.5001853
Ranger AM, Patel YK, Chaudhary N, Anantha RV (2013) Familial syndromes associated with intracranial tumors: a review. Childs Nerv Syst 30:47–64. https://doi.org/10.1007/s00381-013-2309-z
Rasmussen SA, Yang Q, Friedman JM (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 68:1110–1118. https://doi.org/10.1086/320121
Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, Callif-Daley F, Grumet SC, Hunt KS, Nagy RS, McKinnon WC, Petrucelli NM, Bennett RL, Trepanier AM (2011) Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21:151–161. https://doi.org/10.1007/s10897-011-9462-x
Roach ES (2016) Applying the lessons of tuberous sclerosis: the 2015 Hower award lecture. Pediatr Neurol 63:1–17. https://doi.org/10.1016/j.pediatrneurol.2016.07.003
Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628
Rodriguez FJ, Perry A, Gutmann DH, O’Neill BP, Leonard J, Bryant S, Giannini C (2008) Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 67:240–249. https://doi.org/10.1097/NEN.0b013e318165eb75
Roth TM, Petty EM, Barald KF (2008) The role of steroid hormones in the NF1 phenotype: focus on pregnancy. Am J Med Genet A 146A:1624–1633. https://doi.org/10.1002/ajmg.a.32301
Roth J, Roach ES, Bartels U, Jóźwiak 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
Rothwell PM, Price JF, Fowkes FGR, Zanchetti A, Roncaglioni MC, Tognoni G, Lee R, Belch JFF, Wilson M, Mehta Z, Meade TW (2012) Short-term effects of daily aspirin on cancer incidence, mortality, and non-vascular death: analysis of the time course of risks and benefits in 51 randomised controlled trials. Lancet 379:1602–1612. https://doi.org/10.1016/S0140-6736(11)61720-0
Ruggieri M (2001) Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). Am J Med Genet 101(2):178–180
Ruggieri M, Praticò AD, Evans DG (2015) Diagnosis, management, and new therapeutic options in childhood neurofibromatosis type 2 and related forms. Semin Pediatr Neurol 22:240–258. https://doi.org/10.1016/j.spen.2015.10.008
Said R, Hong DS, Warneke CL, Lee JJ, Wheler JJ, Janku F, Naing A, Falchook GS, Fu S, Piha-Paul S, Tsimberidou AM, Kurzrock R (2013) P53 mutations in advanced cancers: clinical characteristics, outcomes, and correlation between progression-free survival and bevacizumab-containing therapy. Oncotarget 4:705–714. https://doi.org/10.18632/oncotarget.974
Salamon J, Mautner VF, Adam G, Derlin T (2005) Multimodal imaging in neurofibromatosis type 1-associated nerve sheath Tumors. Rofo 187(12):1084–1092
Saurin J-C, Pilleul F, Soussan EB, Manière T, D’Halluin PN, Gaudric M, Cellier C, Heresbach D, Gaudin J-L, Capsule Commission of the French Society of Digestive Endoscopy (SFED) (2010) Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome. Endoscopy 42:1057–1062. https://doi.org/10.1055/s-0030-1255742
Saxena A, Sampson JR (2015) Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Semin Neurol 35:269–276. https://doi.org/10.1055/s-0035-1552616
Schindera C, Wingeier K, Goeggel Simonetti B, Diepold M, Nauer CB, Fleischhauer J, Steinlin M (2011) Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? Childs Nerv Syst 27:2107–2111. https://doi.org/10.1007/s00381-011-1554-2
Schwartz RA, Fernández G, Kotulska K, Jozwiak S (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57:189–202. https://doi.org/10.1016/j.jaad.2007.05.004
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG (2010) Further genotype – phenotype correlations in neurofibromatosis 2. Clin Genet 77:163–170. https://doi.org/10.1111/j.1399-0004.2009.01315.x
Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D (2008) Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 105:11264–11269. https://doi.org/10.1073/pnas.0802970105
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, Göksenin 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 (2015) Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Publ Group 47:257–262. https://doi.org/10.1038/ng.3202
Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S (2006) Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol 36:337–343. https://doi.org/10.1093/jjco/hyl052
Simone CB, Lonser RR, Ondos J, Oldfield EH, Camphausen K, Simone NL (2011) Infratentorial craniospinal irradiation for von Hippel-Lindau: a retrospective study supporting a new treatment for patients with CNS hemangioblastomas. Neuro-Oncology 13:1030–1036. https://doi.org/10.1093/neuonc/nor085
Stefanaki K, Alexiou GA, Stefanaki C, Prodromou N (2012) Tumors of central and peripheral nervous system associated with inherited genetic syndromes. Pediatr Neurosurg 48:271–285. https://doi.org/10.1159/000351546
Steinbok P, Hentschel S, Almqvist P, Cochrane DD, Poskitt K (2002) Management of optic chiasmatic/hypothalamic astrocytomas in children. Can J Neurol Sci 29:132–138
Steinsapir J, Carr AA, Prisant LM, Bransome ED (1997) Metyrosine and pheochromocytoma. Arch Intern Med 157:901–906
Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng H-YC, Greene T, Reinker K, Swensen J, Chan RJ, Yang F-C, Senbanjo L, Yang Z, Mao R, Pasquali M (2011) Bone resorption in syndromes of the Ras/MAPK pathway. Clin Genet 80:566–573. https://doi.org/10.1111/j.1399-0004.2010.01619.x
Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F (2013) Approaches to treating NF1 tibial pseudarthrosis: consensus from the children’s tumor foundation NF1 bone abnormalities consortium. J Pediatr Orthop 33(3):269–275. https://doi.org/10.1097/BPO.0b013e31828121b8
Stolfi C, De Simone V, Pallone F, Monteleone G (2013) Mechanisms of action of non-steroidal anti-inflammatory drugs (NSAIDs) and mesalazine in the chemoprevention of colorectal cancer. Int J Mol Sci 14:17972–17985. https://doi.org/10.3390/ijms14091797
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223–262. https://doi.org/10.1038/ajg.2014.435
Tabori U, Nanda S, Druker H, Lees J, Malkin D (2007) Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res 67:1415–1418. https://doi.org/10.1158/0008-5472.CAN-06-3682
Tadini G, Milani D, Menni F, Pezzani L, Sabatini C, Esposito S (2014) Is it time to change the neurofibromatosis 1 diagnostic criteria? Eur J Intern Med 25:506–510. https://doi.org/10.1016/j.ejim.2014.04.004
Thalakoti S, Geller T (2015) Basal cell nevus syndrome or Gorlin syndrome. Handb Clin Neurol 132:119–128
Therkildsen C, Ladelund S, Rambech E, Persson A, Petersen A, Nilbert M (2015) Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. Eur J Neurol 22:717–724. https://doi.org/10.1111/ene.12647
Thiele EA (2004) Managing epilepsy in tuberous sclerosis complex. J Child Neurol 19:680–686
Tiwari AK, Roy HK, Lynch HT (2016) Lynch syndrome in the 21st century: clinical perspectives. QJM 109:151–158. https://doi.org/10.1093/qjmed/hcv137
Traboulsi EI, Apostolides J, Giardiello FM, Krush AJ, Booker SV, Hamilton SR, Hussels IE (1996) Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet 17:167–174
Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791–800
Tsai J-D, Wei C-C, Chen S-M, Lue K-H, Sheu J-N (2014) Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex. Int Urol Nephrol 46:1685–1690. https://doi.org/10.1007/s11255-014-0701-6
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
Upadhyaya M, Huson SM, Davies M, Thomas N (2007) An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80(1):140–151
Vasen HF, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G, Taal BG, Moller P, Wijnen JT (2001) MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 19:4074–4080
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 12:559–567. https://doi.org/10.1016/S1470-2045(11)70119-X
Vivarelli R, Grosso S, Calabrese F, Farnetani MA, Di Bartolo R, Morgese G, Balestri P (2003) Epilepsy in neurofibromatosis 1. J Child Neurol 18(5):338–342
Wanebo JE, Lonser RR, Glenn GM, Oldfield EH (2003) The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 98:82–94. https://doi.org/10.3171/jns.2003.98.1.0082
Wimmer K, Kratz CP (2010) Constitutional mismatch repair-deficiency syndrome. Haematologica 95:699–701. https://doi.org/10.3324/haematol.2009.021626
Wind JJ, Lonser RR (2011) Management of von Hippel-Lindau disease associated CNS lesions. Expert Rev Neurother 11(10):1433–1441
Winship IM, Dudding TE (2008) Lessons from the skin – cutaneous features of familial cancer. Lancet Oncol 9:462–472. https://doi.org/10.1016/S1470-2045(08)70126-8
Xie J, Epstein E (2011) Activation of hedgehog signaling in human cancer. In: Xie J (ed) Hedgehog signaling activation in human cancer and its clinical implications. Springer-Verlag, New York, pp 85–104
Yang KY, Caughey AB, Little SE, Cheung MK, Chen L-M (2011) A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families. Familial Cancer 10:535–543. https://doi.org/10.1007/s10689-011-9444-z
Yap Y-S, McPherson JR, Ong C-K, Rozen SG, Teh B-T, Lee ASG, Callen DF (2014) The NF1 gene revisited – from bench to bedside. Oncotarget 5:5873–5892. https://doi.org/10.18632/oncotarget.2194
Zhang B, McDaniel SS, Rensing NR, Wong M (2013) Vigabatrin inhibits seizures and mTOR pathway activation in a mouse model of tuberous sclerosis complex. PLoS One 8:e57445. https://doi.org/10.1371/journal.pone.0057445
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this entry
Cite this entry
Ferry, I., Alli, S., Rutka, J.T. (2018). Familial Syndromes. In: Di Rocco, C., Pang, D., Rutka, J. (eds) Textbook of Pediatric Neurosurgery. Springer, Cham. https://doi.org/10.1007/978-3-319-31512-6_81-2
Download citation
DOI: https://doi.org/10.1007/978-3-319-31512-6_81-2
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-31512-6
Online ISBN: 978-3-319-31512-6
eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences
Publish with us
Chapter history
-
Latest
Familial Syndromes- Published:
- 30 July 2018
DOI: https://doi.org/10.1007/978-3-319-31512-6_81-2
-
Original
Familial Syndromes- Published:
- 05 February 2018
DOI: https://doi.org/10.1007/978-3-319-31512-6_81-1