Produção Nacional
Revisado por pares
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
2011; Wiley; Volume: 81; Issue: 6 Linguagem: Inglês
10.1111/j.1399-0004.2011.01764.x
ISSN1399-0004
AutoresDébora Romeo Bertola, Antônio Carlos Pereira, AS Brasil, Lena Suzuki, Cláudia C. Leite, R Falzoni, Uenis Tannuri, A.B. Poplawski, KM Janowski, Chong Ae Kim, LM Messiaen,
Tópico(s)Chromatin Remodeling and Cancer
ResumoClinical GeneticsVolume 81, Issue 6 p. 595-597 Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? DR Bertola, Corresponding Author DR Bertola Unidade de Genética, Instituto da CriançaDébora R. BertolaInstituto da Criança – HC/FMUSPAv. Dr. Enéas Carvalho de Aguiar647 Cerqueira CésarSão Paulo CEP: 05403-900BrazilTel.: +55 11 3069 8671Fax: +55 11 3069 8503e-mail: [email protected]Search for more papers by this authorAC Pereira, AC Pereira InCorSearch for more papers by this authorAS Brasil, AS Brasil Unidade de Genética, Instituto da CriançaSearch for more papers by this authorL Suzuki, L Suzuki Department of RadiologySearch for more papers by this authorC Leite, C Leite Department of RadiologySearch for more papers by this authorR Falzoni, R Falzoni Department of PathologySearch for more papers by this authorU Tannuri, U Tannuri Department of Pediatrics Surgery, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAB Poplawski, AB Poplawski Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, AL, USASearch for more papers by this authorKM Janowski, KM Janowski Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, AL, USASearch for more papers by this authorCA Kim, CA Kim Unidade de Genética, Instituto da CriançaSearch for more papers by this authorLM Messiaen, LM Messiaen Unidade de Genética, Instituto da CriançaSearch for more papers by this author DR Bertola, Corresponding Author DR Bertola Unidade de Genética, Instituto da CriançaDébora R. BertolaInstituto da Criança – HC/FMUSPAv. Dr. Enéas Carvalho de Aguiar647 Cerqueira CésarSão Paulo CEP: 05403-900BrazilTel.: +55 11 3069 8671Fax: +55 11 3069 8503e-mail: [email protected]Search for more papers by this authorAC Pereira, AC Pereira InCorSearch for more papers by this authorAS Brasil, AS Brasil Unidade de Genética, Instituto da CriançaSearch for more papers by this authorL Suzuki, L Suzuki Department of RadiologySearch for more papers by this authorC Leite, C Leite Department of RadiologySearch for more papers by this authorR Falzoni, R Falzoni Department of PathologySearch for more papers by this authorU Tannuri, U Tannuri Department of Pediatrics Surgery, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAB Poplawski, AB Poplawski Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, AL, USASearch for more papers by this authorKM Janowski, KM Janowski Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, AL, USASearch for more papers by this authorCA Kim, CA Kim Unidade de Genética, Instituto da CriançaSearch for more papers by this authorLM Messiaen, LM Messiaen Unidade de Genética, Instituto da CriançaSearch for more papers by this author First published: 28 December 2011 https://doi.org/10.1111/j.1399-0004.2011.01764.xCitations: 17Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Kratz CP, Niemeyer CM, Zenker M. An unexpected new role of mutant Ras: perturbation of human embryonic development. J Mol Med 2007: 85: 227– 235. 2 Huang JH, Simon SL, Nagpal S, Nelson PT, Zager EL. Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol 2004: 62: 353– 361. 3 Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009: 19: 230– 236. 4 Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010: 1: 2– 26. 5 Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011: 157: 83– 89. 6 Jongmans MC, van der Burgt I, Hoogerbrugge PM et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet 2011: 19: 870– 874. 7 Gripp KW, Scott CI Jr, Nicholson L et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet 2002: 108: 80– 87. 8 Gripp KW. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 2005: 137C: 72– 77. 9 Bertola DR, Pereira AC, Brasil AS, Albano LM, Kim CA, Krieger JE. Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. J Hum Genet 2007: 52: 521– 526. 10 Gonzalvo A, Fowler A, Cook RJ et al. Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. J Neurosurg 2011: 114: 756– 762. 11 Hadfield KD, Newman WG, Bowers NL et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 2008: 45: 332– 339. 12 Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 2008: 29: 227– 231. 13 Kaplan MS, Opitz JM, Gosset FR. Noonan's syndrome. A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm. Am J Dis Child 1968: 116: 359– 366. 14 Suri M, Garrett C. Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q? Clin Dysmorphol 1998: 7: 149– 151. 15 Johannessen CM, Reczek EE, James MF, Brems H, Legius E, Cichowski K. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A 2005: 102: 8573– 8578. 16 Gremer L, Merbitz-Zahradnik T, Dvorsky R et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Curr Opin Genet Dev 2009: 19: 230– 236. 17 Kratz CP, Zampino G, Kriek M et al. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Am J Med Genet A 2009: 149A: 1036– 1040. 18 Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res 2009: 72 (Suppl. 2): 8– 14. 19 Zenker M, Lehmann K, Schulz AL et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007: 44: 131– 135. 20 Schubbert S, Zenker M, Rowe SL et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006: 38: 331– 336. 21 Carta C, Pantaleoni F, Bocchinfuso G et al. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006: 79: 129– 135. 22 Niihori T, Aoki Y, Narumi Y et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006: 38: 294– 296. 23 Søvik O, Schubbert S, Houge G et al. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet 2007: 44: e84. 24 Nyström AM, Ekvall S, Berglund E et al. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet 2008: 45: 500– 506. 25 Lo FS, Lin JL, Kuo MT et al. Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. Eur J Pediatr 2009: 168: 919– 923. 26 Huang JH, Simon SL, Nagpal S, Nelson PT, Zager EL. Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol 2004: 62: 353– 361. Citing Literature Volume81, Issue6June 2012Pages 595-597 ReferencesRelatedInformation
Referência(s)