Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Manancial - Repositório Digital da UFSM |
Texto Completo: | http://repositorio.ufsm.br/handle/1/14739 |
Resumo: | Lynch Syndrome (SL) is responsible for 3 to 5% of colorectal cancer diagnoses. This syndrome of predisposition to cancer presents autosomal dominant inheritance and it is caused by deleterious germline mutations in genes responsible for correcting errors of DNA base pairing. Knowing the importance of identifying individuals with this syndrome as a way of preventing neoplasia, a prospective, descriptive cross - sectional study was conducted to recognize the prevalence of clinical criteria for SL in patients diagnosed with colorectal cancer treated at the Hospital Universitário de Santa Maria. The inclusion criteria were: diagnosis of colon or rectum cancer occurred in the year 2015 and 2016, age greater than 18 years. The data were collected through a questionnaire with patients, with questions regarding the family history of neoplasia and histopathological characteristics analyzed through anatomopathological diagnosis. Patients who met the Bethesda SL criteria were referred for further evaluation and screened for genetic alterations in mathematical prediction models such as PREMM5, available online. The statistical analysis was by descriptive analysis of the quantitative variables. In the present study, 135 patients were selected, of which 32% met the Bethesda criteria, data similar to the current literature. We can conclude from this study that clinical history is an important tool in identifying patients at risk for SL. It should be seen as a manner to suspect patients with genetic syndromes and as an opportunity to disseminate these diseases by providing greater knowledge in the medical field of these syndromes, however, exams such immunohistochemistry and microsatellite instability research should also be included in this research. |
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Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSMPrevalence of clinical criteria for Lynch syndrome in patients with diagnosis of colorretal cancer at the University Hospital of Santa MariaSíndrome de LynchCritérios de BethesdaNeoplasia colorretalPREMM5História familiarLynch syndromeBethesda criteriaColorectal cancerPREMM5History familiyCNPQ::CIENCIAS DA SAUDE::MEDICINALynch Syndrome (SL) is responsible for 3 to 5% of colorectal cancer diagnoses. This syndrome of predisposition to cancer presents autosomal dominant inheritance and it is caused by deleterious germline mutations in genes responsible for correcting errors of DNA base pairing. Knowing the importance of identifying individuals with this syndrome as a way of preventing neoplasia, a prospective, descriptive cross - sectional study was conducted to recognize the prevalence of clinical criteria for SL in patients diagnosed with colorectal cancer treated at the Hospital Universitário de Santa Maria. The inclusion criteria were: diagnosis of colon or rectum cancer occurred in the year 2015 and 2016, age greater than 18 years. The data were collected through a questionnaire with patients, with questions regarding the family history of neoplasia and histopathological characteristics analyzed through anatomopathological diagnosis. Patients who met the Bethesda SL criteria were referred for further evaluation and screened for genetic alterations in mathematical prediction models such as PREMM5, available online. The statistical analysis was by descriptive analysis of the quantitative variables. In the present study, 135 patients were selected, of which 32% met the Bethesda criteria, data similar to the current literature. We can conclude from this study that clinical history is an important tool in identifying patients at risk for SL. It should be seen as a manner to suspect patients with genetic syndromes and as an opportunity to disseminate these diseases by providing greater knowledge in the medical field of these syndromes, however, exams such immunohistochemistry and microsatellite instability research should also be included in this research.A Síndrome de Lynch (SL) é responsável por 3 a 5 % dos diagnósticos de câncer colorretal. Esta síndrome de predisposição ao câncer apresenta herança autossômica dominante e é causada por mutações germinativas deletérias em genes responsáveis por corrigir erros de pareamento de bases do DNA. Sabendo da importância de identificar os indivíduos com essa síndrome como maneira de prevenção de neoplasia foi realizado um estudo transversal prospectivo descritivo, para reconhecer a prevalência dos critérios clínicos para SL em pacientes com diagnóstico de câncer colorretal tratados no Hospital Universitário de Santa Maria. Os critérios de inclusão foram: diagnóstico de câncer de cólon ou reto ocorridos no ano de 2015 e 2016, idade superior a 18 anos. Os dados foram coletados através de questionário com pacientes, com perguntas referentes à história familiar de neoplasia e características histopalógicas analisadas por meio do exame anatomopatológico do diagnóstico. Os pacientes que preencheram os critérios de Bethesda para SL foram encaminhados para avaliação complementar e pesquisados quanto à possibilidade de alterações genéticas em modelos matemáticos de predição como PREMM5, disponível online. A estatística foi por análise descritiva das variáveis quantitativas. No presente estudo foram selecionados 135 pacientes, dos quais 32% preencheram os critérios de Bethesda, dados semelhantes ao da literatura corrente. Podemos concluir com esse estudo, que a historia clinica é uma ferramenta importante na identificação de pacientes em risco para SL. Deve ser vista como uma maneira de suspeição de pacientes com síndromes genéticas e como uma oportunidade de divulgação dessas doenças proporcionando um maior conhecimento na área médica dessas síndromes, porém, exames como a imunohistoquímica e a pesquisa de instabilidade de microssatélites também devem ser incluídos nessa investigação.Universidade Federal de Santa MariaBrasilMedicinaUFSMPrograma de Pós-Graduação em Ciências da SaúdeCentro de Ciências da SaúdeCóser, Virgínia Mariahttp://lattes.cnpq.br/4601008307298787Araújo, Maria do Carmo dos Santoshttp://lattes.cnpq.br/7986155159671486Velho, Maria Teresa Aquino de Camposhttp://lattes.cnpq.br/3242426873145535Stefanon, Lauren Razzera2018-11-05T17:29:08Z2018-11-05T17:29:08Z2018-03-29info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttp://repositorio.ufsm.br/handle/1/14739porAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessreponame:Manancial - Repositório Digital da UFSMinstname:Universidade Federal de Santa Maria (UFSM)instacron:UFSM2018-11-06T05:00:38Zoai:repositorio.ufsm.br:1/14739Biblioteca Digital de Teses e Dissertaçõeshttps://repositorio.ufsm.br/ONGhttps://repositorio.ufsm.br/oai/requestatendimento.sib@ufsm.br||tedebc@gmail.comopendoar:2018-11-06T05:00:38Manancial - Repositório Digital da UFSM - Universidade Federal de Santa Maria (UFSM)false |
dc.title.none.fl_str_mv |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM Prevalence of clinical criteria for Lynch syndrome in patients with diagnosis of colorretal cancer at the University Hospital of Santa Maria |
title |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
spellingShingle |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM Stefanon, Lauren Razzera Síndrome de Lynch Critérios de Bethesda Neoplasia colorretal PREMM5 História familiar Lynch syndrome Bethesda criteria Colorectal cancer PREMM5 History familiy CNPQ::CIENCIAS DA SAUDE::MEDICINA |
title_short |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
title_full |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
title_fullStr |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
title_full_unstemmed |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
title_sort |
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM |
author |
Stefanon, Lauren Razzera |
author_facet |
Stefanon, Lauren Razzera |
author_role |
author |
dc.contributor.none.fl_str_mv |
Cóser, Virgínia Maria http://lattes.cnpq.br/4601008307298787 Araújo, Maria do Carmo dos Santos http://lattes.cnpq.br/7986155159671486 Velho, Maria Teresa Aquino de Campos http://lattes.cnpq.br/3242426873145535 |
dc.contributor.author.fl_str_mv |
Stefanon, Lauren Razzera |
dc.subject.por.fl_str_mv |
Síndrome de Lynch Critérios de Bethesda Neoplasia colorretal PREMM5 História familiar Lynch syndrome Bethesda criteria Colorectal cancer PREMM5 History familiy CNPQ::CIENCIAS DA SAUDE::MEDICINA |
topic |
Síndrome de Lynch Critérios de Bethesda Neoplasia colorretal PREMM5 História familiar Lynch syndrome Bethesda criteria Colorectal cancer PREMM5 History familiy CNPQ::CIENCIAS DA SAUDE::MEDICINA |
description |
Lynch Syndrome (SL) is responsible for 3 to 5% of colorectal cancer diagnoses. This syndrome of predisposition to cancer presents autosomal dominant inheritance and it is caused by deleterious germline mutations in genes responsible for correcting errors of DNA base pairing. Knowing the importance of identifying individuals with this syndrome as a way of preventing neoplasia, a prospective, descriptive cross - sectional study was conducted to recognize the prevalence of clinical criteria for SL in patients diagnosed with colorectal cancer treated at the Hospital Universitário de Santa Maria. The inclusion criteria were: diagnosis of colon or rectum cancer occurred in the year 2015 and 2016, age greater than 18 years. The data were collected through a questionnaire with patients, with questions regarding the family history of neoplasia and histopathological characteristics analyzed through anatomopathological diagnosis. Patients who met the Bethesda SL criteria were referred for further evaluation and screened for genetic alterations in mathematical prediction models such as PREMM5, available online. The statistical analysis was by descriptive analysis of the quantitative variables. In the present study, 135 patients were selected, of which 32% met the Bethesda criteria, data similar to the current literature. We can conclude from this study that clinical history is an important tool in identifying patients at risk for SL. It should be seen as a manner to suspect patients with genetic syndromes and as an opportunity to disseminate these diseases by providing greater knowledge in the medical field of these syndromes, however, exams such immunohistochemistry and microsatellite instability research should also be included in this research. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-11-05T17:29:08Z 2018-11-05T17:29:08Z 2018-03-29 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://repositorio.ufsm.br/handle/1/14739 |
url |
http://repositorio.ufsm.br/handle/1/14739 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.rights.driver.fl_str_mv |
Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Federal de Santa Maria Brasil Medicina UFSM Programa de Pós-Graduação em Ciências da Saúde Centro de Ciências da Saúde |
publisher.none.fl_str_mv |
Universidade Federal de Santa Maria Brasil Medicina UFSM Programa de Pós-Graduação em Ciências da Saúde Centro de Ciências da Saúde |
dc.source.none.fl_str_mv |
reponame:Manancial - Repositório Digital da UFSM instname:Universidade Federal de Santa Maria (UFSM) instacron:UFSM |
instname_str |
Universidade Federal de Santa Maria (UFSM) |
instacron_str |
UFSM |
institution |
UFSM |
reponame_str |
Manancial - Repositório Digital da UFSM |
collection |
Manancial - Repositório Digital da UFSM |
repository.name.fl_str_mv |
Manancial - Repositório Digital da UFSM - Universidade Federal de Santa Maria (UFSM) |
repository.mail.fl_str_mv |
atendimento.sib@ufsm.br||tedebc@gmail.com |
_version_ |
1805922131796557824 |