A single center study of colorectal cancer screening for Lynch syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 238-241, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-772035
ABSTRACT
OBJECTIVE@#To determine the ratio of deficient mismatch repair (dMMR) proteins and Lynch syndrome among patients undergoing colorectal cancer resection.@*METHODS@#From June 2014 to May 2016, immunohistochemistry for mismatch repair proteins including mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6) and PMS1 homolog 2 (PMS2) were carried out on 207 surgically resected specimens. Samples with lost expression of MMR proteins underwent genetic testing.@*RESULTS@#Loss of expression of MMR proteins were found among 21 patients and accounted for 10.14% of the colorectal cancers. dMMR was more common in patients ≤50 years old, or with proximal tumor at splenic flexure and mucinous adenocarcinoma. Ten patients underwent genetic testing, with three pathogenic mutations (MSH6 c.3013C>T, MLH1 c.199G>A and a novel MSH6 c.584delT) and four ambiguous mutations identified. At least 1.4% of the colorectal cancers were diagnosed as Lynch syndrome.@*CONCLUSION@#Routine screening for Lynch syndrome among patients with colorectal cancer with MMR protein immunohistochemistry as preliminary screening method and MMR gene sequencing as diagnostic method is effective and feasible. It can reduce missed diagnosis of Lynch syndrome and bring lifelong benefit to patients and their families.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Imuno-Histoquímica
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Proteína 2 Homóloga a MutS
/
Detecção Precoce de Câncer
/
Endonuclease PMS2 de Reparo de Erro de Pareamento
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Adolescente
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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