The epidemiological and clinical features of familial adenomatous polyposis in Ribeirão Preto

Abstract

Purpose to study 75 familial adenomatous polyposis (FAP) patients treated in a single institution in Ribeirão Preto/SP, from January 1981 to December 2011. Methods this is a retrospective study and the following data were collected: gender, age, main symptoms, familial history, coexisting malignancies, surgical treatment, surgical morbidity and mortality, factors related to life quality. Results median age was 29 years. Male-to-female ratio was 1.2:1. Bleeding was the most common symptom (62.6%). Colorectal cancer incidence was 25.5% (n = 19). Extracolonic neoplasia incidence was 8%. Colectomy with ileorectal anastomosis (IRA) was performed in 72% of the patients. Eighteen patients (24%) were submitted to proctocolectomy with “J-pouch” ileoanal anastomosis. In three patients (4%) proctocolectomy with terminal ileostomy was performed. Early and late complication rate were similar (22.7% × 24%). Ileal pouch surgery exhibited tendency to a higher morbidity and mortality but no significance could be found. Overall mortality rate was 7.46%. Malignant neoplasia was the main cause of mortality, accounting for 60% of deaths. Conclusion FAP is a rare pathology in our country. Genetic counseling and proper screening programs are essential tools to early diagnosis and follow-up. Surgery is the most effective treatment and the best option to prevent malignant neoplasia.

Expression Levels of the CA9, WT1, and PRAME Genes and Genotyping-Associated Antigens for the Diagnosis and Prognosis of Colorectal Cancer

“…Tumor-associated antigens and autoantibodies have generated increasing interest as biomarkers for the development of innovative diagnostic and prognostic tools that have an effective role in the management of human cancers. 26 Feitosa et al 27 concluded that genetic counseling and proper screening programs are essential tools for the early diagnosis and follow-up of cases of CRC.…”

“…Clinical features of patients with colorectal adenocarcinoma (colorrectal cancer group: patients 1-25; control group: patients[26][27][28][29][30][31][32][33][34][35] …”

A Two Generation of Familial Adenomatous Polyposis

“…Familial adenomatous polyposis (FAP) is a part of genetic polyposis syndrome which is caused by germline mutation in the adenomatous polyposis coli (APC) gene located in chromosome 5q21. 1 The incidence is estimated at one in every 8,000-10,000 live births and accounts for less than 1% of cases of colon cancer. 2,3 The frequency is constant throughout the world, with men and women equally affected.…”

“…Colonic meanwhile the extraintestinal manifestationinclude congenital hyperthrophy of retinal epithelium, epidermoid cyst, desmoid tumor, and pancreatic cancer. 1,3 Patients tend to develop hundreds to thousand adenomatous polyp between the second and third decades of life. 1 If left untreated, almost 100% patients will develop colorectal cancer by the age 50 years.…”

“…1,3 Patients tend to develop hundreds to thousand adenomatous polyp between the second and third decades of life. 1 If left untreated, almost 100% patients will develop colorectal cancer by the age 50 years. 3 Colorectal carcinoma (CRC) is the main cause of death among FAP patients, therefore early diagnosis and surveillance is imperative to reduce cancer related mortality.…”