Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Tóm tắt
Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. There is a much higher rate of mutation detection in familial disease than in sporadic disease. We have carried out extensive genetic testing on a cohort of familial and sporadic patients who fulfilled clinical diagnostic criteria for schwannomatosis. In our current cohort, we identified novel mutations within the SMARCB1 gene and detected several mutations that have been previously identified in other schwannomatosis cohorts. Of the schwannomatosis screens reported to date, including our current dataset, SMARCB1 mutations have been found in 45 % of familial probands and 7 % of sporadic patients. The exon 1 mutation, c.41C >A, and the 3′ untranslated region mutation, c.*82C >T, are the most common changes reported in schwannomatosis disease so far, indicating mutation hotspots at both 5′ and 3′ portions of the gene. SMARCB1 mutations are found in a significant proportion of schwannomatosis patients, but there remains the possibility that further causative genes remain to be found.
Tài liệu tham khảo
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
Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR (2008) Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74(4):358–366
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
Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R (1990) NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 113(1):39–52
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
Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A (2007) Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 44(7):424–428
MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno JS Jr, Perry A, Louis DN (2003) Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 60(12):1968–1974
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
Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29(2):227–231
Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S (2011) SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC Neurol 11(1):9. doi:10.1186/1471-2377-11-9
Sevenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O (1999) Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype–phenotype correlations. Hum Mol Genet 8(13):2359–2368
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. doi:10.1086/302639
Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Canc 56(1):7–15. doi:10.1002/pbc.22831
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
Carter JM, O’Hara C, Dundas G, Gilchrist D, Collins MS, Eaton K, Judkins AR, Biegel JA, Folpe AL (2011) 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. doi:10.1097/PAS.0b013e3182380802
Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L (2010) Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics 11(1):73–80
van den Munckhof P, Christiaans I, Kenter SB, Baas F, Hulsebos TJ (2011) Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. Neurogenetics. doi:10.1007/s10048-011-0300-y
Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ (2010) Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. J Med Genet 48(2):93–97. doi:10.1136/jmg.2010.082420
Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG (2010) SMARCB1 mutations are not a common cause of multiple meningiomas. J Med Genet 47(8):567–568. doi:10.1136/jmg.2009.075721
Schmitz U, Mueller W, Weber M, Sevenet N, Delattre O, von Deimling A (2001) INI1 mutations in meningiomas at a potential hotspot in exon 9. Br J Cancer 84(2):199–201. doi:10.1054/bjoc.2000.1583
Smith MJ, Boyd CD, MacCollin MM, Plotkin SR (2009) Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet 75(5):501–502
Gonzalvo A, Fowler A, Cook RJ, Little NS, Wheeler H, McDonald KL, Biggs MT (2011) Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article. J Neurosurg 114(3):756–762. doi:10.3171/2010.8.JNS091900
Murray AJ, Hughes TA, Neal JW, Howard E, Evans DG, Harper PS (2006) A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiatry 77(2):269–271
Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40(6):459–463
Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T (1998) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 63(3):727–736
Baser ME, Friedman JM, Evans DG (2006) Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 66(5):730–732
Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG (2011) Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am J Med Genet. doi:10.1002/ajmg.a.34376
Evans DG, Birch JM, Ramsden RT, Sharif S, Baser ME (2006) Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet 43(4):289–294. doi:10.1136/jmg.2005.036319