Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2011 |
| Outros Autores: | , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| DOI: | 10.1590/S1415-47572012005000073 |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/6809 |
Resumo: | Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil |
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Cardoso, Leila C. A.Castaño, Jair A. TenorioPereira, Hanna S.Lima, Maria Angélica de F. D.Santos, Anna Cláudia E. dosFaria, Paulo S. deFerman, SimaSeuánez, Héctor N.Nevado, Julián B.Almeida, José Carlos Cabral deLapunzina, PabloVargas, Fernando R.2013-08-21T12:57:27Z2013-08-21T12:57:27Z2011https://www.arca.fiocruz.br/handle/icict/680910.1590/S1415-47572012005000073engConstitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, BrasilHospital Universitario La Paz. Instituto de Genética Médica y Molecular. La Paz, BolíviaInstituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, BrasilInstituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, BrasilUniversidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, BrasilInstituto Nacional de Câncer. Divisão de Patologia. Rio de Janeiro, RJ, BrasilInstituto Nacional de Câncer. Serviço de Oncologia Pediátrica. Rio de Janeiro, RJ, BrasilUniversidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, BrasilHospital Universitario La Paz. Instituto de Genética Médica y Molecular. La Paz, BolíviaFundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher. da Criança e da Saúde. Departamento de Genética. Rio de Janeiro, RJ, BrasilHospital Universitario La Paz. Instituto de Genética Médica y Molecular. La Paz, BolíviaUniversidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, BrasilThe most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.EpigeneticHistopathologyMethylationMS-MLPAPyrosequencingEpigênese GenéticaPatologiaMetilaçãoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6809/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALConstitutional and somatic methylation status of DMRH19 and KvDMR.pdfConstitutional and somatic methylation status of DMRH19 and KvDMR.pdfapplication/pdf557130https://www.arca.fiocruz.br/bitstream/icict/6809/2/Constitutional%20and%20somatic%20methylation%20status%20of%20DMRH19%20and%20KvDMR.pdf0fe8ddec091d4b946689eb0f43261060MD52TEXTConstitutional and somatic methylation status of DMRH19 and KvDMR.pdf.txtConstitutional and somatic methylation status of DMRH19 and KvDMR.pdf.txtExtracted texttext/plain32441https://www.arca.fiocruz.br/bitstream/icict/6809/5/Constitutional%20and%20somatic%20methylation%20status%20of%20DMRH19%20and%20KvDMR.pdf.txt4ac53fc8ddf605b88893e9eae8d21a06MD55THUMBNAILConstitutional and somatic methylation status of DMRH19 and KvDMR.pdf.jpgConstitutional and somatic methylation status of DMRH19 and KvDMR.pdf.jpgGenerated Thumbnailimage/jpeg2147https://www.arca.fiocruz.br/bitstream/icict/6809/4/Constitutional%20and%20somatic%20methylation%20status%20of%20DMRH19%20and%20KvDMR.pdf.jpg835f25b8d406552d6749feffb3c06069MD54icict/68092018-04-06 08:50:40.37oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-04-06T11:50:40Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| title |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| spellingShingle |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients Cardoso, Leila C. A. Epigenetic Histopathology Methylation MS-MLPA Pyrosequencing Epigênese Genética Patologia Metilação |
| title_short |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| title_full |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| title_fullStr |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| title_full_unstemmed |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| title_sort |
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients |
| author |
Cardoso, Leila C. A. |
| author_facet |
Cardoso, Leila C. A. Castaño, Jair A. Tenorio Pereira, Hanna S. Lima, Maria Angélica de F. D. Santos, Anna Cláudia E. dos Faria, Paulo S. de Ferman, Sima Seuánez, Héctor N. Nevado, Julián B. Almeida, José Carlos Cabral de Lapunzina, Pablo Vargas, Fernando R. |
| author_role |
author |
| author2 |
Castaño, Jair A. Tenorio Pereira, Hanna S. Lima, Maria Angélica de F. D. Santos, Anna Cláudia E. dos Faria, Paulo S. de Ferman, Sima Seuánez, Héctor N. Nevado, Julián B. Almeida, José Carlos Cabral de Lapunzina, Pablo Vargas, Fernando R. |
| author2_role |
author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Cardoso, Leila C. A. Castaño, Jair A. Tenorio Pereira, Hanna S. Lima, Maria Angélica de F. D. Santos, Anna Cláudia E. dos Faria, Paulo S. de Ferman, Sima Seuánez, Héctor N. Nevado, Julián B. Almeida, José Carlos Cabral de Lapunzina, Pablo Vargas, Fernando R. |
| dc.subject.en.pt_BR.fl_str_mv |
Epigenetic Histopathology Methylation MS-MLPA Pyrosequencing |
| topic |
Epigenetic Histopathology Methylation MS-MLPA Pyrosequencing Epigênese Genética Patologia Metilação |
| dc.subject.decs.pt_BR.fl_str_mv |
Epigênese Genética Patologia Metilação |
| description |
Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil |
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2011 |
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2011 |
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2013-08-21T12:57:27Z |
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2013-08-21T12:57:27Z |
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