GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population
Autor(a) principal: | |
---|---|
Data de Publicação: | 2022 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista Brasileira de Cancerologia (Online) |
Texto Completo: | https://rbc.inca.gov.br/index.php/revista/article/view/2350 |
Resumo: | Introduction: The very aggressive soft tissue and bone pediatric tumor Ewing’s sarcoma (ES) is caused in most cases by the chromosomal translocation t(11;22)(q24;q12), which encodes an aberrant chimeric transcription factor (EWS-FLI1) that regulates target genes, including the critical oncogene NR0B1 (Xp21.2), via GGAA microsatellites. Objective: Our objective was to analyze the GGAA microsatellites of NR0B1 promoter region of ES patients and healthy subjects in our population. Methodology: Ten male ES patients and 71 adult healthy males from Rio Grande do Sul state, Brazil, were included in this study. Leukocyte DNA was extracted, amplified by PCR, sequenced by the Sanger method and analyzed by capillary electrophoresis. Total number of GGAA motifs, length of microsatellite in base pairs, number of segments separated by "A" insertions and greatest number of consecutive GGAA motifs were analyzed. Statistical analyses were performed in the SPSS® statistical software and p-value <0,05 was considered significant. Results: A total of 21 different alleles was identified in the 81 subjects, with 24.2 allele [(GGAA)7A(GGAA)7A(GGAA)10 sequence] being the most frequent, but when comparing the data between the two groups, no significant difference was found. Conclusion: We concluded that the studied sample was highly variable in terms microsatellite structure, including the presence of rare alleles, giving us the opportunity to describe our population which is a fundamental step on identifying genetic implications in ES tumorigenesis. |
id |
INCA-1_3703a69bf0b597053cf9eb2b33f6d6d9 |
---|---|
oai_identifier_str |
oai:rbc.inca.gov.br:article/2350 |
network_acronym_str |
INCA-1 |
network_name_str |
Revista Brasileira de Cancerologia (Online) |
repository_id_str |
|
spelling |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian PopulationMicrosatélites GGAA en la Región Promotora de NR0B1 en Pacientes con Sarcoma de Ewing y Individuos Sanos de una Población del Sur de BrasilMicrossatélites GGAA na Região Promotora de NR0B1 em Pacientes com Sarcoma de Ewing e Indivíduos Saudáveis de uma População no Sul do Brasilsarcoma de Ewingreceptor nuclear órfão DAX-1repetições de microssatélites/genéticapredisposição genética para doençaoncogenessarcoma, EwingDAX-1 orphan nuclear receptormicrosatellite repeats/geneticsgenetic predisposition to diseaseoncogenessarcoma de Ewingreceptor nuclear huérfano DAX-1repeticiones de microsatélite/genéticapredisposición genética a la enfermedadoncogenesIntroduction: The very aggressive soft tissue and bone pediatric tumor Ewing’s sarcoma (ES) is caused in most cases by the chromosomal translocation t(11;22)(q24;q12), which encodes an aberrant chimeric transcription factor (EWS-FLI1) that regulates target genes, including the critical oncogene NR0B1 (Xp21.2), via GGAA microsatellites. Objective: Our objective was to analyze the GGAA microsatellites of NR0B1 promoter region of ES patients and healthy subjects in our population. Methodology: Ten male ES patients and 71 adult healthy males from Rio Grande do Sul state, Brazil, were included in this study. Leukocyte DNA was extracted, amplified by PCR, sequenced by the Sanger method and analyzed by capillary electrophoresis. Total number of GGAA motifs, length of microsatellite in base pairs, number of segments separated by "A" insertions and greatest number of consecutive GGAA motifs were analyzed. Statistical analyses were performed in the SPSS® statistical software and p-value <0,05 was considered significant. Results: A total of 21 different alleles was identified in the 81 subjects, with 24.2 allele [(GGAA)7A(GGAA)7A(GGAA)10 sequence] being the most frequent, but when comparing the data between the two groups, no significant difference was found. Conclusion: We concluded that the studied sample was highly variable in terms microsatellite structure, including the presence of rare alleles, giving us the opportunity to describe our population which is a fundamental step on identifying genetic implications in ES tumorigenesis.Introducción: El sarcoma de Ewing (ES) es un tumor pediátrico de huesos y tejidos blandos muy agresivo, que se presenta con mayor frecuencia por translocación cromosómica t(11; 22)(q24; q12), que codifica un factor de transcripción quimérico aberrante (EWS-FLI1) que regula los genes diana, incluido el oncogén NR0B1 (Xp21.2), a través de microsatélites GGAA. Objetivo: Nuestro objetivo fue analizar los microsatélites GGAA de la región promotora de NR0B1 en pacientes con ES y personas sanas de nuestra población. Metodología: Este estudio incluyó a 10 pacientes varones con diagnóstico de ES y 71 varones adultos del estado de Rio Grande do Sul, Brasil. El ADN extraído de leucocitos fue amplificado por PCR, secuenciado por el método de Sanger y analizado por electroforesis capilar. El número total de repeticiones GGAA, longitud total de microsatélites en pares de bases, número de segmentos separados por inserciones "A" y el mayor número de repeticiones GGAA consecutivas fueran analizados. Los análisis estadísticos se realizaron con el software estadístico SPSS® y se consideró significativo un valor de p <0,05. Resultados: Se identificaron un total de 21 alelos diferentes en los 81, siendo el alelo 24.2 [(GGAA)7A(GGAA)7A(GGAA)10] el más frecuente, pero al comparar los datos entre los dos grupos, no hubo diferencia estadísticamente significativa. Conclusión: La muestra estudiada es muy variable en cuanto a estructura de microsatélites, incluyendo la presencia de alelos raros, lo que nos brinda la oportunidad de describir nuestra población, lo cual es un paso fundamental en la identificación de implicaciones genéticas en la tumorigénesis de ES.Introdução: O sarcoma de Ewing (ES) é um tumor pediátrico de ossos e partes moles muito agressivo, causado, na maioria das vezes, pela translocação cromossômica t(11;22)(q24;q12), codificando um fator de transcrição quimérico aberrante (EWS-FLI1) que regula genes-alvo, incluindo o oncogene NR0B1 (Xp21.2), via microssatélites GGAA. Objetivo: Analisar os microssatélites GGAA da região promotora de NR0B1 em pacientes com ES e indivíduos saudáveis da população em investigação. Método: Foram incluídos dez pacientes do sexo masculino com diagnóstico de ES e 71 indivíduos adultos hígidos do sexo masculino do Estado do Rio Grande do Sul, Brasil. O DNA foi extraído de sangue periférico e amplificado por PCR, sequenciado pelo método de Sanger e analisado por eletroforese capilar. Foram analisados o número total de repetições GGAA, comprimento total do microssatélite em pares de bases, número de segmentos separados por inserções "A" e maior número de repetições GGAA consecutivas. As análises estatísticas foram realizadas no software estatístico SPSS® e o valor de p<0,05 foi considerado significativo. Resultados: Um total de 21 alelos diferentes foi identificado nos 81 indivíduos, com o alelo 24,2 [(GGAA)7A(GGAA)7A(GGAA)10] sendo o mais frequente; mas, ao comparar os dados entre os dois grupos, nenhuma diferença significativa foi encontrada. Conclusão: A amostra estudada é altamente variável em termos de estrutura de microssatélites, incluindo a presença de alelos raros, dando a oportunidade de descrever essa população, o que é uma etapa fundamental na identificação de implicações genéticas na tumorigênese do ES.INCA2022-03-23info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArtigos, Avaliado pelos paresapplication/pdftext/htmlhttps://rbc.inca.gov.br/index.php/revista/article/view/235010.32635/2176-9745.RBC.2022v68n2.2350Revista Brasileira de Cancerologia; Vol. 68 No. 2 (2022): Apr./May/June; e-012350Revista Brasileira de Cancerologia; Vol. 68 Núm. 2 (2022): abr./mayo/jun.; e-012350Revista Brasileira de Cancerologia; v. 68 n. 2 (2022): abr./maio./jun.; e-0123502176-9745reponame:Revista Brasileira de Cancerologia (Online)instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)instacron:INCAenghttps://rbc.inca.gov.br/index.php/revista/article/view/2350/1595https://rbc.inca.gov.br/index.php/revista/article/view/2350/1634Copyright (c) 2022 Revista Brasileira de Cancerologiahttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessStefani, Rodrigo Rosa de Toni, Elisa Cristina de Farias, Caroline Brunetto de Brunetto, André Tesainer Brunetto, Algemir Lunardi Roesler, RafaelAlho, Clarice Sampaio Friedrich, Deise Cristine 2023-07-27T13:33:39Zoai:rbc.inca.gov.br:article/2350Revistahttps://rbc.inca.gov.br/index.php/revistaPUBhttps://rbc.inca.gov.br/index.php/revista/oairbc@inca.gov.br0034-71162176-9745opendoar:2023-07-27T13:33:39Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)false |
dc.title.none.fl_str_mv |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population Microsatélites GGAA en la Región Promotora de NR0B1 en Pacientes con Sarcoma de Ewing y Individuos Sanos de una Población del Sur de Brasil Microssatélites GGAA na Região Promotora de NR0B1 em Pacientes com Sarcoma de Ewing e Indivíduos Saudáveis de uma População no Sul do Brasil |
title |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
spellingShingle |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population Stefani, Rodrigo Rosa de sarcoma de Ewing receptor nuclear órfão DAX-1 repetições de microssatélites/genética predisposição genética para doença oncogenes sarcoma, Ewing DAX-1 orphan nuclear receptor microsatellite repeats/genetics genetic predisposition to disease oncogenes sarcoma de Ewing receptor nuclear huérfano DAX-1 repeticiones de microsatélite/genética predisposición genética a la enfermedad oncogenes |
title_short |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
title_full |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
title_fullStr |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
title_full_unstemmed |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
title_sort |
GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population |
author |
Stefani, Rodrigo Rosa de |
author_facet |
Stefani, Rodrigo Rosa de Toni, Elisa Cristina de Farias, Caroline Brunetto de Brunetto, André Tesainer Brunetto, Algemir Lunardi Roesler, Rafael Alho, Clarice Sampaio Friedrich, Deise Cristine |
author_role |
author |
author2 |
Toni, Elisa Cristina de Farias, Caroline Brunetto de Brunetto, André Tesainer Brunetto, Algemir Lunardi Roesler, Rafael Alho, Clarice Sampaio Friedrich, Deise Cristine |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Stefani, Rodrigo Rosa de Toni, Elisa Cristina de Farias, Caroline Brunetto de Brunetto, André Tesainer Brunetto, Algemir Lunardi Roesler, Rafael Alho, Clarice Sampaio Friedrich, Deise Cristine |
dc.subject.por.fl_str_mv |
sarcoma de Ewing receptor nuclear órfão DAX-1 repetições de microssatélites/genética predisposição genética para doença oncogenes sarcoma, Ewing DAX-1 orphan nuclear receptor microsatellite repeats/genetics genetic predisposition to disease oncogenes sarcoma de Ewing receptor nuclear huérfano DAX-1 repeticiones de microsatélite/genética predisposición genética a la enfermedad oncogenes |
topic |
sarcoma de Ewing receptor nuclear órfão DAX-1 repetições de microssatélites/genética predisposição genética para doença oncogenes sarcoma, Ewing DAX-1 orphan nuclear receptor microsatellite repeats/genetics genetic predisposition to disease oncogenes sarcoma de Ewing receptor nuclear huérfano DAX-1 repeticiones de microsatélite/genética predisposición genética a la enfermedad oncogenes |
description |
Introduction: The very aggressive soft tissue and bone pediatric tumor Ewing’s sarcoma (ES) is caused in most cases by the chromosomal translocation t(11;22)(q24;q12), which encodes an aberrant chimeric transcription factor (EWS-FLI1) that regulates target genes, including the critical oncogene NR0B1 (Xp21.2), via GGAA microsatellites. Objective: Our objective was to analyze the GGAA microsatellites of NR0B1 promoter region of ES patients and healthy subjects in our population. Methodology: Ten male ES patients and 71 adult healthy males from Rio Grande do Sul state, Brazil, were included in this study. Leukocyte DNA was extracted, amplified by PCR, sequenced by the Sanger method and analyzed by capillary electrophoresis. Total number of GGAA motifs, length of microsatellite in base pairs, number of segments separated by "A" insertions and greatest number of consecutive GGAA motifs were analyzed. Statistical analyses were performed in the SPSS® statistical software and p-value <0,05 was considered significant. Results: A total of 21 different alleles was identified in the 81 subjects, with 24.2 allele [(GGAA)7A(GGAA)7A(GGAA)10 sequence] being the most frequent, but when comparing the data between the two groups, no significant difference was found. Conclusion: We concluded that the studied sample was highly variable in terms microsatellite structure, including the presence of rare alleles, giving us the opportunity to describe our population which is a fundamental step on identifying genetic implications in ES tumorigenesis. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-03-23 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Artigos, Avaliado pelos pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://rbc.inca.gov.br/index.php/revista/article/view/2350 10.32635/2176-9745.RBC.2022v68n2.2350 |
url |
https://rbc.inca.gov.br/index.php/revista/article/view/2350 |
identifier_str_mv |
10.32635/2176-9745.RBC.2022v68n2.2350 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://rbc.inca.gov.br/index.php/revista/article/view/2350/1595 https://rbc.inca.gov.br/index.php/revista/article/view/2350/1634 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2022 Revista Brasileira de Cancerologia https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2022 Revista Brasileira de Cancerologia https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf text/html |
dc.publisher.none.fl_str_mv |
INCA |
publisher.none.fl_str_mv |
INCA |
dc.source.none.fl_str_mv |
Revista Brasileira de Cancerologia; Vol. 68 No. 2 (2022): Apr./May/June; e-012350 Revista Brasileira de Cancerologia; Vol. 68 Núm. 2 (2022): abr./mayo/jun.; e-012350 Revista Brasileira de Cancerologia; v. 68 n. 2 (2022): abr./maio./jun.; e-012350 2176-9745 reponame:Revista Brasileira de Cancerologia (Online) instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) instacron:INCA |
instname_str |
Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) |
instacron_str |
INCA |
institution |
INCA |
reponame_str |
Revista Brasileira de Cancerologia (Online) |
collection |
Revista Brasileira de Cancerologia (Online) |
repository.name.fl_str_mv |
Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) |
repository.mail.fl_str_mv |
rbc@inca.gov.br |
_version_ |
1797042232323211264 |