• 作者：Raquel Seijas Tamayo^a ; ^{raquel_seijas@usal.es} ; Teresa Martí ; n Gó ; mez^a ; Jessica Pé ; rez Garcí ; a^b ; Laura Mací ; as Á ; lvarez^b ; Mercedes Sá ; nchez Barba^c ; Elena Castro Marcos^a ; Eva Marí ; a Sá ; nchez Tapia^b ; Rogelio Gonzá ; lez Sarmiento^b ; Juan Jesú ; s Cruz Herná ; ndez^a
• 关键词：Consejo gené ; tico ; Cá ; ncer colorrectal ; Sí ; ndrome de Lynch ; Cá ; ncer hereditario ; Heterogeneidad fenotí ; pica
• 刊名：Medicina Cl铆nica
• 出版年：2011
• 期刊代码：pca254_00257753
• 类别：med
• 出版时间：9 July 2011
• 卷：137
• 期：4
• 页码：166-170
• 文件大小：186 K

Background and objectives

The objective was to study the clinicopathologic characteristics of patients diagnosed of colorectal cancer (CRC) with clinical criteria for Lynch syndrome, in our region, in order to assess and improve the care of them and their families in the Genetic Counseling Unit of our hospital.

Patients and methods

This was an observational, transversal retrospective study. The studied sample was made up of all the patients with clinical criteria for Lynch syndrome, who underwent a molecular analysis test in the Genetic Counseling Unit of Salamanca, during the period 2004-2009. We included patient and tumor related variables and the presence or absence of mutations in MLH1 and MSH2.

Results

A total of 76 patients were included in the analysis. Fifteen of them carried a mutation either in MLH1 or in MSH2. The mean age at diagnosis of colorectal cancer was 51.2 and 54.3 years in the group with and without mutation respectively, with a similar gender distribution in both groups. A wide phenotypic heterogeneity was found in the sample.

Conclusions

Lynch syndrome is an entity difficult to categorize from a clinical point of view. Therefore, it is important to be alert for a better management of these patients and their families.