hMLH1 promoter methylation and BRAF mutations in high-frequency microsatellite instability colorectal cancers not fulfilling the revised Bethesda guidelines
Annals of Surgical Treatment and Research
;
: 123-130, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-16071
ABSTRACT
PURPOSE:
Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated the feasibility of hereditary colorectal cancer based on hMLH1 methylation and BRAF mutations.METHODS:
Between May 2005 and June 2011, we enrolled all 33 analyzed patients with MSI-H cancer (malefemale, 2310; mean age, 65.5 +/- 9.4 years) from a prospectively maintained database that didn't match Bethesda guidelines and who had results of hMLH1 methylation and BRAF mutations.RESULTS:
Among the 33 patients, hMLH1 promoter methylation was observed in 36.4% (n = 12), and was not significantly related with clinicopathologic variables, including MLH1 expression. BRAF mutations were observed in 33.3% of the patients (n = 11). Four of 11 and five of 22 patients with MSI-H colon cancers were BRAF mutation (+)/hMLH1 promoter methylation (-) or BRAF mutation (-)/hMLH1 promoter methylation (+). Of the 33 patients, 21.2% were BRAF mutation (+)/hMLH1 promoter methylation (+), indicating sporadic cancers. Seventeen patients (51.5%) were BRAF mutation (-)/hMLH1 promoter methylation (-), and suggested Lynch syndrome.CONCLUSION:
Patients with MSI-H colorectal cancers not fulfilling the Bethesda guidelines possibly have hereditary colorectal cancers. Adding tests of hMLH1 promoter methylation and BRAF mutations can be useful to distinguish them from sporadic colorectal cancers.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasias Colorretais
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Estudos Prospectivos
/
Neoplasias do Colo
/
Instabilidade de Microssatélites
/
Reparo de Erro de Pareamento de DNA
/
Metilação
Tipo de estudo:
Guia de Prática Clínica
/
Estudo observacional
Limite:
Humanos
Idioma:
Inglês
Revista:
Annals of Surgical Treatment and Research
Ano de publicação:
2014
Tipo de documento:
Artigo
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