| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 2.09 MB | Adobe PDF |
Abstract(s)
INTRODUÇÃO: A mucosite induzida pelo tratamento anti-neoplásico é um efeito indesejável, associado a mecanismos inespecíficos de citotoxicidade por lesão no ADN. Há vários mecanismos responsáveis pela toxicidade celular, apesar de se desconhecer a complexidade destes processos, está estabelecida uma relação direta ou indireta com a síntese do ADN e fatores reguladores de genes específicos. OBJETIVOS: Identificar e avaliar polimorfismos genéticos que possam estar relacionados com os tumores pediátricos mais frequentes e efetuar uma revisão da literatura sobre os polimorfismos genéticos associados à mucosite oral, numa população pediátrica submetida a tratamento anti-neoplásico. MATERIAIS E MÉTODOS: Efetuou-se uma revisão narrativa e posteriormente uma pesquisa na base de dados cBioPortal for cancer genomics. A recolha foi feita de forma independente para os dois grupos de cancro mais prevalentes na população pediátrica, as leucemias linfóides agudas (LLA) e as leucemias mielóides agudas (LMA). Os genes foram analisados separadamente, para cada tipo de cancro, avaliando assim os polimorfismos na população em estudo. RESULTADOS: Nas populações pediátricas de 95 pacientes com LLA e LMA, os genes TP53, BRCA1, EP300, MAPK11, CDKN1A e MTHFR, apresentaram polimorfismos, com exceção do gene MYC que apenas apresenta mutação no grupo de pacientes com LMA. No gene XRCC1 não foi descrito nenhum polimorfismo, tanto no grupo de pacientes com LLA como o grupo com LMA. CONCLUSÃO: Após uma revisão da literatura concluiu-se que determinados genes coincidentes com os encontrados na base dados, estão associados a uma suscetibilidade de desenvolver mucosite oral ou a um agravamento da mesma. Futuramente, seria importante relacionar os polimorfismos genéticos numa população pediátrica e relacionar com o grau de mucosite.
INTRODUCTION: Cancer treatment-induced oral mucositis is a side effect associated with non-specific cytotoxic mechanisms of DNA damage. Cell toxicity can be induced by several mechanisms. Although its complexity is not fully understood, it is related directly or indirectly with DNA synthesis and specific gene regulatory factors. PURPOSE: To identify and evaluate genetic polymorphisms that are likely to be involved in the most common paediatric tumours and to perform a literature review on genetic polymorphisms associated with cancer treatment-related oral mucositis in a paediatric population. MATERIALS AND METHODS: A narrative review was performed, followed by research at the cBioPortal for cancer genomics database. Data were independently collected for the two most prevalent cancer groups in the paediatric population: acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML). For each cancer type, was performed an individual gene analysis and polymorphisms were characterised in the study population. RESULTS: In two paediatric populations of ALL and AML, with 95 patients each, TP53, BRCA1, EP300, MAPK11, CDKN1A, and MTHFR genes had polymorphisms. MYC gene was the exception, as it only depicted mutations in the AML group of patients. XRCC1 gene showed no polymorphisms on both groups of patients. CONCLUSION: Literature review has shown that some genes are associated with increased susceptibility or severe forms of oral mucositis coincided with those found in the database. It would be relevant to determined, in the near future, genetic polymorphisms in a paediatric population with oral mucositis.
INTRODUCTION: Cancer treatment-induced oral mucositis is a side effect associated with non-specific cytotoxic mechanisms of DNA damage. Cell toxicity can be induced by several mechanisms. Although its complexity is not fully understood, it is related directly or indirectly with DNA synthesis and specific gene regulatory factors. PURPOSE: To identify and evaluate genetic polymorphisms that are likely to be involved in the most common paediatric tumours and to perform a literature review on genetic polymorphisms associated with cancer treatment-related oral mucositis in a paediatric population. MATERIALS AND METHODS: A narrative review was performed, followed by research at the cBioPortal for cancer genomics database. Data were independently collected for the two most prevalent cancer groups in the paediatric population: acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML). For each cancer type, was performed an individual gene analysis and polymorphisms were characterised in the study population. RESULTS: In two paediatric populations of ALL and AML, with 95 patients each, TP53, BRCA1, EP300, MAPK11, CDKN1A, and MTHFR genes had polymorphisms. MYC gene was the exception, as it only depicted mutations in the AML group of patients. XRCC1 gene showed no polymorphisms on both groups of patients. CONCLUSION: Literature review has shown that some genes are associated with increased susceptibility or severe forms of oral mucositis coincided with those found in the database. It would be relevant to determined, in the near future, genetic polymorphisms in a paediatric population with oral mucositis.
Description
Keywords
Polimorfismo genético Mucosite oral Cancro Cancro pediátrico Genetic polymorphism Oral mucositis Cancer Childhood cancer