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Publication
Estudo mutacional em tumor de Wilms por sequenciação de nova geração
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Advisor(s)
Abstract(s)
O Tumor de Wilms (TW) é o tumor renal mais comum da infância, com
uma incidência de 1 em ~10000 crianças. Esta patologia é de etiologia
genética complexa e diversificada. No entanto, cerca de um terço dos
doentes apresenta mutações somáticas associadas aos genes WT1,
CTNNB1, TP53 e/ou AMER1. Assim, foi desenvolvido um painel de amplicões
destes 4 genes para a identificação de mutações num grupo de
doentes portugueses com TW, através de uma metodologia baseada na
sequenciação de nova geração. As bibliotecas de DNA foram preparadas
a partir de amostras de sangue periférico e tumor de 36 doentes com
TW e sequenciadas no MiSeq. Foram identificadas alterações somáticas
em 7 dos 36 (19,4%) doentes estudados. Conclui-se que a sequenciação
de um painel de genes é um método rápido para a deteção de mutações
somáticas quando desenhado com cuidado de forma a serem evitados
problemas de perda de cobertura.
Wilms' tumor (WT) is the most common renal tumor of childhood affecting 1 in ~10,000 children. This tumor has a complex and diverse genetic etiology. About one third of the patients show somatic mutations in WT1, CTNNB1, TP53 and/or AMER1 genes. A new amplicon-based next-generation sequencing methodology was developed for the identification of mutations in those 4 genes in a cohort of Portuguese WT patients. DNA libraries were prepared from paired peripheral blood/tumor samples of 36 patients and sequenced on a MiSeq instrument. Somatic alterations were detected in 7 of 36 (19,4%) patients. It can be concluded that gene panel sequencing is a fast methodology for the detection of somatic mutations. However, care must be taken in the gene panel design in order to avoid low coverage targets.
Wilms' tumor (WT) is the most common renal tumor of childhood affecting 1 in ~10,000 children. This tumor has a complex and diverse genetic etiology. About one third of the patients show somatic mutations in WT1, CTNNB1, TP53 and/or AMER1 genes. A new amplicon-based next-generation sequencing methodology was developed for the identification of mutations in those 4 genes in a cohort of Portuguese WT patients. DNA libraries were prepared from paired peripheral blood/tumor samples of 36 patients and sequenced on a MiSeq instrument. Somatic alterations were detected in 7 of 36 (19,4%) patients. It can be concluded that gene panel sequencing is a fast methodology for the detection of somatic mutations. However, care must be taken in the gene panel design in order to avoid low coverage targets.
Description
Keywords
Doenças Raras Doenças Genéticas Doenças Oncológicas Tumor de Wilms Deteção de Mutações Somáticas Sequenciação de Nova Geração
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2015;5(Supl 7):34-37
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP