What is the appropriate screening protocol in Lynch syndrome?

Autor: P. C. van de Meeberg, A. E. de Jong, Hans F. A. Vasen, Jan H. Kleibeuker, Annemieke Cats, Fokko M. Nagengast, H. J. van Wijk, Gerrit Griffioen
Přispěvatelé: Faculteit Medische Wetenschappen/UMCG, Guided Treatment in Optimal Selected Cancer Patients (GUTS)
Rok vydání: 2005
Předmět:
Oncology
Adenoma
Adult
Cancer Research
medicine.medical_specialty
Pediatrics
Heterozygote
Colorectal cancer
NETHERLANDS
MEDLINE
Colonoscopy
colorectal cancer
Aetiology
screening and detection [ONCOL 5]
FAMILIES
KINDREDS
Internal medicine
Epidemiology
Genetics
Medicine
Humans
Molecular gastro-enterology and hepatology [IGMD 2]
Genetics (clinical)
Molecular diagnosis
prognosis and monitoring [UMCN 1.2]
Aged
Protocol (science)
RISK
Hereditary cancer and cancer-related syndromes [ONCOL 1]
medicine.diagnostic_test
business.industry
COLON-CANCER
Age Factors
NONPOLYPOSIS COLORECTAL-CANCER
Middle Aged
medicine.disease
GENE
Colorectal Neoplasms
Hereditary Nonpolyposis
digestive system diseases
Annual Screening
Lynch syndrome
HOMOLOG
TUMOR SPECTRUM
Mutation
business
surveillance protocol
Follow-Up Studies
Zdroj: Familial Cancer, 5(4), 373-378. SPRINGER
Familial Cancer, 5, 4, pp. 373-8
Familial Cancer, 5, 373-8
ISSN: 1389-9600
Popis: Item does not contain fulltext INTRODUCTION: Lynch syndrome families have a substantial risk of developing colorectal cancer (CRC). The recommended surveillance protocol includes colonoscopy every 2 years from age 20-25 years. It is yet unknown whether annual screening of patients aged 40-60 years is more effective than bi-annual screening, whether patients who had an adenoma removed should be re-examined after a year and whether surveillance of second-degree relatives is indicated. The aim of this study was to address these issues. METHODS: All carriers of a mismatch repair gene mutation who participated in the surveillance program were selected from the Dutch Lynch syndrome registry. The results of colonoscopy were prospectively collected. RESULTS: A total of 666 mutation carriers were identified in 110 families. Fourty-one CRCs were detected during endoscopic follow-up, of which 34 (83%) were diagnosed between age 40 and 60 years. In five of 34 patients, CRC was diagnosed within 1 year after colonoscopy, eight cancers were diagnosed between 1 and 2 years and the remaining tumors more than 2 years after colonoscopy. All eight CRCs detected between 1 and 2 years were at local stage. At least one adenoma was diagnosed at 141 examinations. The risk of developing CRC during follow-up in carriers with an adenoma was similar as in carriers without an adenoma at the previous colonoscopy. 280 parent-child couples with at least one Lynch syndrome-related carcinoma were identified in 110 families. In only 19 (6.8%) of these couples, CRC developed earlier in the child than an Lynch syndrome-associated cancer in the parent. CONCLUSION: The current surveillance protocol, i.e., bi-annual colonoscopy in first-degree relatives independent of age and endoscopic findings, appears to be appropriate.
Databáze: OpenAIRE
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