Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain. A multicenter, prospective, nation-wide study. European Journal of Gastroenterology and Hepatology (en prensa)

Abstract

Colorectal cancer is the third leading cause of cancer mortality in Western Countries. Hereditary nonpolyposis colorectal cancer is the most common type of hereditary colorectal cancer but its incidence remains controversial, ranging from 1 to 5%.

Objective : The present prospective, multicenter, nation-wide study was aimed at compiling prominent epidemiological and clinical data with respect to hereditary nonpolyposis colorectal cancer and other familial colorectal cancer forms in Spain, where information is lacking.

Methods : All patients with a de novo diagnosis of colorectal cancer attended between November 2000 and October 2001 in 25 hospitals all over Spain were registered. Demographic, clinical, and tumour-related characteristics of probands, as well as a detailed family history were obtained.

Results : A total of 1872 colorectal cancer patients were included. Clinical diagnosis of hereditary nonpolyposis colorectal cancer was established in 46 (2.5%) patients according to Amsterdam II criteria. Comparison between patients fulfilling either Amsterdam I or II criteria revealed no differences with respect to demographic, clinic and tumour-related characteristics. 504 (27.0%) patients had family history of hereditary nonpolyposis colorectal cancer-related neoplasm not fulfilling the Amsterdam criteria (Familial colorectal cancer). 360 (19.2%) patients fulfilled at least one of the Bethesda's criteria.

Conclusions : These clinicoepidemiological data provide a more accurate characterization of hereditary nonpolyposis colorectal cancer and other familial colorectal cancer forms in Spain, with potential implications in preventive strategies.

Synchronous colorectal neoplasms in patients with colorectal cancer: predisposing individual and familial factors. Diseases of the Colon and Rectum (en prensa)

Abstract

Background: Patients with colorectal cancer have an increased risk for developing synchronous and metachronous neoplasms. However, besides those cases with inherited disorders predisposing to tumor multicentricity, it is unknown which subjects are prone to this condition. The aim of the study was to identify individual and familial characteristics associated with the development of synchronous colorectal neoplasms in patients with colorectal cancer.

Patients and methods: During one-year period, all patients with colorectal cancer attended in 25 Spanish hospitals were included. Exclusion criteria were colorectal cancer developed in the context of familial adenomatous polyposis or inflammatory bowel disease, refusal to participate in the study, incomplete family history, and inadequate examination of the colon and rectum. In addition to demographic, clinical, pathology, molecular (microsatellite instability status), and familial characteristics, presence of synchronous colorectal neoplasms (adenoma or carcinoma) were analyzed.

Results: A total of 1522 patients were included in the study. Synchronous colorectal neoplasms were documented in 505 (33.2%) patients, either adenoma (n=411), carcinoma (n=27), or both (n=67). Development of these lesions was associated with male gender (OR: 1.94; 95%CI: 1.43-2.65), personal history of colorectal adenoma (OR: 3.39; 95%CI: 1.58-7.31), proximal location of primary tumor (OR: 1.40; 95%CI: 1.02-1.94), tumor TNM stage II (OR: 1.31; 95%CI: 1.15-4.66), mucinous carcinoma (OR: 1.89; 95%CI: 1.19-2.99), and family history of gastric cancer (OR: 2.03; 95%CI: 1.17-3.52).

Conclusions : Based on individual and familial characteristics associated with synchronous colorectal neoplasms, it has been possible to identify a subgroup of patients with colorectal cancer prone to tumor multicentricity with potential implications on the delineation of preventive strategies.

Los autores de los dos artículos:

Virgínia Piñol MD * , Montserrat Andreu MD † , Antoni Castells MD * , Artemio Payá MD ‡ , Xavier Bessa MD † , Rodrigo Jover MD § , for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
All authors are listed in the Appendix. Study organization and investigators:

Writing Committee and Working Group : Montserrat Andreu (chairman), Virgínia Piñol, Antoni Castells, Artemio Payà, Xavier Bessa, and Rodrigo Jover. Montserrat Andreu and Antoni Castells conceived the idea for the study; Virgínia Piñol, Montserrat Andreu, Antoni Castells, and Artemio Payà designed the protocol; Virgínia Piñol supervised the execution of the study; Virgínia Piñol, Antoni Castells, and Montserrat Andreu drafted the report; Virgínia Piñol was responsible for database design and management; Virgínia Piñol, Antoni Castells and Llorenç Quintó did the statistical analysis; Artemio Payà provided histopathological advice.

All participants listed below were fully involved in the study and were given an opportunity to comment on the paper: