Management of Patients with Hereditary Colorectal Cancer Syndromes

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Abstract

Colorectal cancer (CRC) is one of the most important causes of death in the world. Hereditary CRC is found in 5–10% of CRC patients. In this review, we will focus on the major forms of hereditary CRC and their management according to the most recent literature available.

Resumo

O cancro coloretal (CCR) é uma das mais importantes causas de morte ao nível mundial. O cancro coloretal hereditário está associado a cerca de 5 a 10% de todos os casos de CCR. Neste artigo faz-se uma revisão da abordagem dos principais síndromas hereditários associados a CCR de acordo com a literatura mais recente.

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Most cited references 197

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Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Heather Hampel, Wendy Frankel, Edward Martin … (2005)

Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. We assessed the frequency of such mutations in patients with colorectal cancer and examined strategies for molecular screening to identify patients with the syndrome. Patients with a new diagnosis of colorectal adenocarcinoma at the major hospitals in metropolitan Columbus, Ohio, were eligible for the study. Genotyping of the tumor for microsatellite instability was the primary screening method. Among patients whose screening results were positive for microsatellite instability, we searched for germ-line mutations in the MLH1, MSH2, MSH6, and PMS2 genes with the use of immunohistochemical staining for mismatch-repair proteins, genomic sequencing, and deletion studies. Family members of carriers of the mutations were counseled, and those found to be at risk were offered mutation testing. Of 1066 patients enrolled in the study, 208 (19.5 percent) had microsatellite instability, and 23 of these patients had a mutation causing the Lynch syndrome (2.2 percent). Among the 23 probands with the Lynch syndrome, 10 were more than 50 years of age and 5 did not meet the Amsterdam criteria or the Bethesda guidelines for the diagnosis of hereditary nonpolyposis colorectal cancer (including the use of age and family history to identify patients at high risk for the Lynch syndrome). Genotyping for microsatellite instability alone and immunohistochemical analysis alone each failed to identify two probands. In the families of 21 of the probands, 117 persons at risk were tested, and of these, 52 had Lynch syndrome mutations and 65 did not. Routine molecular screening of patients with colorectal adenocarcinoma for the Lynch syndrome identified mutations in patients and their family members that otherwise would not have been detected. These data suggest that the effectiveness of screening with immunohistochemical analysis of the mismatch-repair proteins would be similar to that of the more complex strategy of genotyping for microsatellite instability. Copyright 2005 Massachusetts Medical Society.

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Serrated lesions of the colorectum: review and recommendations from an expert panel.

Douglas Rex, Dennis Ahnen, John A. Baron … (2012)

Serrated lesions of the colorectum are the precursors of perhaps one-third of colorectal cancers (CRCs). Cancers arising in serrated lesions are usually in the proximal colon, and account for a disproportionate fraction of cancer identified after colonoscopy. We sought to provide guidance for the clinical management of serrated colorectal lesions based on current evidence and expert opinion regarding definitions, classification, and significance of serrated lesions. A consensus conference was held over 2 days reviewing the topic of serrated lesions from the perspectives of histology, molecular biology, epidemiology, clinical aspects, and serrated polyposis. Serrated lesions should be classified pathologically according to the World Health Organization criteria as hyperplastic polyp, sessile serrated adenoma/polyp (SSA/P) with or without cytological dysplasia, or traditional serrated adenoma (TSA). SSA/P and TSA are premalignant lesions, but SSA/P is the principal serrated precursor of CRCs. Serrated lesions have a distinct endoscopic appearance, and several lines of evidence suggest that on average they are more difficult to detect than conventional adenomatous polyps. Effective colonoscopy requires an endoscopist trained in the endoscopic appearance of serrated lesions. We recommend that all serrated lesions proximal to the sigmoid colon and all serrated lesions in the rectosigmoid > 5 mm in size, be completely removed. Recommendations are made for post-polypectomy surveillance of serrated lesions and for surveillance of serrated polyposis patients and their relatives.

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The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis.

G Steinbach, P M Lynch, R K Phillips … (2000)

Patients with familial adenomatous polyposis have a nearly 100 percent risk of colorectal cancer. In this disease, the chemopreventive effects of nonsteroidal antiinflammatory drugs may be related to their inhibition of cyclooxygenase-2. We studied the effect of celecoxib, a selective cyclooxygenase-2 inhibitor, on colorectal polyps in patients with familial adenomatous polyposis. In a double-blind, placebo-controlled study, we randomly assigned 77 patients to treatment with celecoxib (100 or 400 mg twice daily) or placebo for six months. Patients underwent endoscopy at the beginning and end of the study. We determined the number and size of polyps from photographs and videotapes; the response to treatment was expressed as the mean percent change from base line. At base line, the mean (+/-SD) number of polyps in focal areas where polyps were counted was 15.5+/-13.4 in the 15 patients assigned to placebo, 11.5+/-8.5 in the 32 patients assigned to 100 mg of celecoxib twice a day, and 12.3+/-8.2 in the 30 patients assigned to 400 mg of celecoxib twice a day (P=0.66 for the comparison among groups). After six months, the patients receiving 400 mg of celecoxib twice a day had a 28.0 percent reduction in the mean number of colorectal polyps (P=0.003 for the comparison with placebo) and a 30.7 percent reduction in the polyp burden (the sum of polyp diameters) (P=0.001), as compared with reductions of 4.5 and 4.9 percent, respectively, in the placebo group. The improvement in the extent of colorectal polyposis in the group receiving 400 mg twice a day was confirmed by a panel of endoscopists who reviewed the videotapes. The reductions in the group receiving 100 mg of celecoxib twice a day were 11.9 percent (P=0.33 for the comparison with placebo) and 14.6 percent (P=0.09), respectively. The incidence of adverse events was similar among the groups. In patients with familial adenomatous polyposis, six months of twice-daily treatment with 400 mg of celecoxib, a cyclooxygenase-2 inhibitor, leads to a significant reduction in the number of colorectal polyps.

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Author and article information

Contributors

Catarina Brandão

Journal

Journal ID (nlm-ta): GE Port J Gastroenterol

Journal ID (iso-abbrev): GE Port J Gastroenterol

Title: GE Portuguese Journal of Gastroenterology

Publisher: Karger Publishers

ISSN (Print): 2341-4545

ISSN (Electronic): 2387-1954

Publication date PMC-release: 14 August 2015

Publication date Collection: Sep-Oct 2015

Publication date (Electronic): 14 August 2015

Volume: 22

Issue: 5

Pages: 204-212

Affiliations

[0005]Gastroenterology Department, Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal

Author notes

[* ]Corresponding author. catarinalopesbrandao@ 123456gmail.com

Article

Publisher ID: S2341-4545(15)00097-6

DOI: 10.1016/j.jpge.2015.06.003

PMC ID: 5580105

PubMed ID: 28868409

SO-VID: f473d1fd-2244-4032-9c4d-298ec80dff35

License:

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

History

Date received : 17 February 2015

Date accepted : 13 June 2015

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Management of Patients with Hereditary Colorectal Cancer Syndromes Translated title: Avaliação de Doentes com Síndromas Hereditários Associados ao Cancro Coloretal

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Abstract

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Most cited references 197

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Serrated lesions of the colorectum: review and recommendations from an expert panel.

The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis.

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