Brief Article
Copyright ©2010 Baishideng. All rights reserved.
World J Gastroenterol. Aug 7, 2010; 16(29): 3697-3703
Published online Aug 7, 2010. doi: 10.3748/wjg.v16.i29.3697
Approach to early-onset colorectal cancer: Clinicopathological, familial, molecular and immunohistochemical characteristics
Jose Perea, Edurne Alvaro, Yolanda Rodríguez, Cristina Gravalos, Eva Sánchez-Tomé, Barbara Rivera, Francisco Colina, Pablo Carbonell, Rogelio González-Sarmiento, Manuel Hidalgo, Miguel Urioste
Jose Perea, Edurne Alvaro, Manuel Hidalgo, Department of Surgery, Hospital Universitario 12 de Octubre, 28041-Madrid, Spain
Yolanda Rodríguez, Francisco Colina, Department of Pathology, Hospital Universitario 12 de Octubre, 28041-Madrid, Spain
Cristina Gravalos, Medical Oncology, Hospital Universitario 12 de Octubre, 28041-Madrid, Spain
Eva Sánchez-Tomé, Barbara Rivera, Miguel Urioste, Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre, 28029-Madrid, Spain
Pablo Carbonell, Molecular Genetics Unit, Centro de Bioquímica y Genética Clínica, Hospital Virgen de la Arrixaca, 30120-Murcia, Spain
Rogelio González-Sarmiento, Department of Medicine, Medicine School, Salamanca University, 37007-Salamanca, Spain
Author contributions: Perea J designed and coordinated the study, and wrote the manuscript; Alvaro E and Gravalos C provided all the cases and clinical and familial information; Rodríguez Y, Sánchez-Tomé E, Rivera B, Colina F and Carbonell P performed the majority of the experiments; González-Sarmiento R, Hidalgo M and Urioste M coordinated the study; all authors were involved in editing the manuscript.
Supported by The Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo (FIS01-04, project P047-04)
Correspondence to: Dr. Jose Perea, Department of Surgery, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n., 28041-Madrid, Spain. josepereag@hotmail.com
Telephone: +34-91-3908240 Fax: +34-91-3908850
Received: March 20, 2010
Revised: May 4, 2010
Accepted: May 11, 2010
Published online: August 7, 2010
Abstract

AIM: To characterize clinicopathological and familial features of early-onset colorectal cancer (CRC) and compare features of tumors with and without microsatellite instability (MSI).

METHODS: Forty-five patients with CRC aged 45 or younger were included in the study. Clinical information, a three-generation family history, and tumor samples were obtained. MSI status was analyzed and mismatch repair genes were examined in the MSI families. Tumors were included in a tissue microarray and an immunohistochemical study was carried out with a panel of selected antibodies.

RESULTS: Early onset CRC is characterized by advanced stage at diagnosis, right colon location, low-grade of differentiation, mucin production, and presence of polyps. Hereditary forms represent at least 21% of cases. Eighty-one percent of patients who died during follow-up showed a lack of expression of cyclin E, which could be a marker of poor prognosis. β-catenin expression was normal in a high percentage of tumors.

CONCLUSION: Early-onset CRC has an important familial component, with a high proportion of tumors showing microsatellite stable. Cyclin E might be a poor prognosis factor.

Keywords: Early onset colorectal cancer; Microsatellite instability; Lynch syndrome; Microsatellite stable colorectal cancer