Clinical analysis and molecular genetic study of hereditary nonpolyposis colorectal cancer kindreds / 中华外科杂志
Chinese Journal of Surgery
;
(12): 158-162, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-299957
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinicopathological and molecular genetic characteristics of hereditary nonpolyposis colorectal cancer (HNPCC), to enable the early diagnosis and to evaluate the treatment.</p><p><b>METHODS</b>We analyzed 12 families of HNPCC from Wenzhou, Zhejiang province, China. Mismatch repair genes hMSH2 and hMLH1 expression and microsatellite instability of tumor tissue were studied using microdissection, microsatellite analysis, immunohistochemical staining and Gene Scan analysis. Direct DNA sequencing of hMSH2 and hMLH1 were performed subsequently.</p><p><b>RESULTS</b>Altogether 32 patients with colorectal cancer were recognized in 12 HNPCC families, with the median age of 45.2 years (75.0% before the age of 50 years). The proximal tumors accounted for 51.1%, while multiple colorectal cancers accounted for 34.4%. Poor differentiation cancers occupied half of the patients (53.1%). And 68.8% of the patients had the tumor of Dukes A and B. Among 12 HNPCC families, 7 cases in 6 HNPCC families developed extracolonic cancer. 13 cases died during follow up of 1 - 23 years. The median survival time was 6.4 years. 19 alive cases followed up from 1 to 28 years. All tumors (9/9) displayed microsatellite instability, with the half losing hMSH2 or hMLH1 expression. In the 5 genetic analyzed kindreds 3 possessed germline mutation. Two of three mutations have not been reported in the worldwide database previously.</p><p><b>CONCLUSION</b>HNPCC showed distinct clinicopathological characteristics. Microsatellite instability analysis and immunohistochemical staining might be the effective screening methods before direct DNA sequencing for the detection of mutation in mismatch repair genes. It is important to analyze the members of affected families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
DNA de Neoplasias
/
Análise Mutacional de DNA
/
Imuno-Histoquímica
/
Proteínas Nucleares
/
Proteínas de Transporte
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Química
/
China
/
Saúde da Família
Tipo de estudo:
Estudo de rastreamento
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Surgery
Ano de publicação:
2004
Tipo de documento:
Artigo
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