p53 gene analysis in childhood B non - Hodgkin's lymphoma
| Autor: | Vivian M. Rumjanek, Eloisa Helena Tajara, Lídia Maria Magalhães de Resende, Raquel Ciuvalschi Maia, Erika Cristina Pavarino Bertelli, Claudete Esteves Klumb |
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| Přispěvatelé: | National Cancer Institute Hospital do Câncer Hematology Service, National Cancer Institute Hospital do Câncer Pathology Service, Universidade Estadual Paulista (Unesp), Faculty of Medicine Department of Molecular Biology, Universidade Federal do Rio de Janeiro (UFRJ) |
| Jazyk: | angličtina |
| Předmět: |
Male
Linfoma de Burkitt lcsh:Medicine Locus (genetics) Chromosomal translocation Polymerase Chain Reaction Exon immune system diseases hemic and lymphatic diseases medicine Humans Allele Child Gene Polymorphism Single-Stranded Conformational Mutação do gene p53 Burkitt's lymphoma business.industry lcsh:R General Medicine B non-Hodgkin's lymphoma Linfoma não-Hodgkin Genes p53 medicine.disease Burkitt Lymphoma Lymphoma Non-Hodgkin's lymphoma p53 mutation Child Preschool Mutation Cancer research Female business |
| Zdroj: | São Paulo Medical Journal, Vol 119, Iss 6, Pp 212-215 SciELO Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP Sao Paulo Medical Journal, Volume: 119, Issue: 6, Pages: 212-215, Published: NOV 2001 Sao Paulo Medical Journal v.119 n.6 2001 São Paulo medical journal Associação Paulista de Medicina instacron:APM |
| ISSN: | 1806-9460 1516-3180 |
| Popis: | Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T19:05:54Z No. of bitstreams: 1 S1516-31802001000600006.pdf: 289469 bytes, checksum: e3aaca532aa76506347ef2491a82c74c (MD5) Made available in DSpace on 2013-08-22T19:05:54Z (GMT). No. of bitstreams: 1 S1516-31802001000600006.pdf: 289469 bytes, checksum: e3aaca532aa76506347ef2491a82c74c (MD5) Previous issue date: 2001-11-01 Made available in DSpace on 2013-09-30T20:09:53Z (GMT). No. of bitstreams: 2 S1516-31802001000600006.pdf: 289469 bytes, checksum: e3aaca532aa76506347ef2491a82c74c (MD5) S1516-31802001000600006.pdf.txt: 22908 bytes, checksum: 379e13c0e752805875dac1d47b2e6d97 (MD5) Previous issue date: 2001-11-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T15:17:48Z No. of bitstreams: 2 S1516-31802001000600006.pdf: 289469 bytes, checksum: e3aaca532aa76506347ef2491a82c74c (MD5) S1516-31802001000600006.pdf.txt: 22908 bytes, checksum: 379e13c0e752805875dac1d47b2e6d97 (MD5) Made available in DSpace on 2014-05-20T15:17:48Z (GMT). No. of bitstreams: 2 S1516-31802001000600006.pdf: 289469 bytes, checksum: e3aaca532aa76506347ef2491a82c74c (MD5) S1516-31802001000600006.pdf.txt: 22908 bytes, checksum: 379e13c0e752805875dac1d47b2e6d97 (MD5) Previous issue date: 2001-11-01 CONTEXTO: Alterações do gene supressor de tumor p53, como mutações e deleções, são lesões genéticas encontradas com maior freqüência nas neoplasias humanas, incluindo câncer de mama, pulmão e cólon. Entre as malignidades hematológicas, o gene 53 é freqüentemente mutado no linfoma de Burkitt, sendo detectadas mutações em 30-40% das amostras tumorais e em 70% das linhagens celulares. OBJETIVO: Analisar as alterações do gene p53 em crianças com linfoma não-Hodgkin de origem B. TIPO DE ESTUDO: Estudo descritivo. LOCAL: Centro de Oncologia Terciário. PARTICIPANTES: O estudo analisou 12 pacientes com linfoma não-Hodgkin B classificados como linfoma de Burkitt. A análise de possíveis mutações do gene p53 foi realizada pela técnica de PCR-SSCP dos exons 5, 6 ,7 e 8/9 do gene. RESULTADOS: Um padrão anormal de migração foi observado em quatro pacientes (33.3%), em um paciente no exon 6 e em três no exon 7. Os casos positivos incluíam dois pacientes que evoluíram para o óbito por progressão da doença. CONCLUSÃO: Esses resultados preliminares sugerem que as alterações do gene p53 são freqüentes em crianças com linfoma de Burkitt e podem contribuir para patogênese ou progressão da doença. CONTEXT: Mutations or deletions in the tumor-suppressor gene p53 are among the commonest genetic changes found in human neoplasms including breast, lung and bowel cancers. In hematological malignancies, p53 is most often mutated in Burkitt's lymphoma, with p53 mutations present in 30 to 40% of tumor samples and in 70% of cell lines. OBJECTIVE: To analyze the p53 gene alterations in child patients with B non-Hodgkin's lymphoma. DESIGN: Descriptive study. SETTING: Tertiary oncology care center. PARTICIPANTS: The study investigated 12 patients with childhood B non-Hodgkin's lymphoma (Burkitt's lymphoma). Screening for p53 mutations was done by polymerase chain reaction - single strand conformational polymorphism (PCR-SSCP) analysis of exon 5 to 8/9 of the gene. RESULTS: Abnormal polymerase chain reaction - single strand conformational polymorphism migration pattern was observed in 4 patients (33.3%), one on exon 6 and three on exon 7. Positive cases included 2 patients who died from disease. CONCLUSION: These preliminary results suggest that p53 mutations are quite frequent in children with Burkitt's lymphoma and may play a role in lymphoma genesis or disease progression. National Cancer Institute Hospital do Câncer Hematology Service National Cancer Institute Hospital do Câncer Pathology Service Universidade Estadual Paulista Instituto de Biociências Letras e Exatas Department of Biology Faculty of Medicine Department of Molecular Biology Universidade Federal do Rio de Janeiro (UFRJ) Department of Biochemistry Laboratory of Tumoral Immunology Universidade Estadual Paulista Instituto de Biociências Letras e Exatas Department of Biology |
| Databáze: | OpenAIRE |
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