Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

Endoscopy DOI: 10.1055/a-1016-4977ESGE recommends that individuals with Lynch syndrome should be followed in dedicated units that practice monitoring of compliance and endoscopic performance measures.Strong recommendation, low quality evidence, level of agreement 100 %.ESGE recommends starting colonoscopy surveillance at the age of 25 years for MLH1 and MSH2 mutation carriers and at the age of 35 years for MSH6 and PMS2 mutation carriers.Strong recommendation, moderate quality evidence, level of agreement 100 %. ESGE recommends the routine use of high-definition endoscopy systems in individuals with Lynch syndrome. Strong recommendation, high quality evidence, level of agreement 100 %. ESGE suggests the use of chromoendoscopy may be of benefit in individuals with Lynch syndrome undergoing colonoscopy; however routine use must be balanced against costs, training, and practical considerations.Weak recommendation, moderate quality evidence, level of agreement 89 %.ESGE recommends definition of familial risk of colorectal cancer as the presence of at least two first-degree relatives with colorectal cancer or at least one first-degree relative with colorectal cancer before the age of 50 years.Strong recommendation, moderate quality evidence, level of agreement 92 %.ESGE recommends colonoscopy surveillance in first-degree relatives of colorectal cancer patients in families that fulfill the definition of familial risk of colorectal cancer.Strong recommendation, moderate qu...
Source: Endoscopy - Category: Gastroenterology Authors: Tags: Guideline Source Type: research

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We present a 47-year-old woman with an MLH1 gene mutation (G133X 397G>T) who presented with menorrhagia. Eleven family members have this mutation, 6 with carcinoma: 5 colorectal and 1 with a gynecologic primary of unknown type. Colonoscopy and endoscopy were unremarkable. Positron emission and computed tomography revealed a 3 cm anterior dome bladder mass without additional extrauterine disease or uterine connection. She underwent partial cystectomy, laparoscopic hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy. The uterus demonstrated a dedifferentiated endometrioid adenocarcinoma, immunohistochemical...
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Online Articles: Case Reports Source Type: research
Authors: Lappalainen J, Holmström D, Lepistö A, Saarnio J, Mecklin JP, Seppälä T Abstract Background: Lifetime incidence of colorectal cancer (CRC) especially in carriers of MLH1 and MSH2 pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy surveillance. Lynch syndrome (LS) registries have been criticized for not reporting colonoscopy quality adequately.Methods: Prospective follow-up data from the national registry were combined with a retrospective assessment of the colonoscopy reports from Helsinki University Hospital electronic patients records in 2004-201...
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
Conclusion The outcomes of this pilot case-control study did not provide further insights into the mechanism of increased adenoma detection in LS patients using virtual chromoendoscopy techniques. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: Endoscopy International Open - Category: Gastroenterology Authors: Tags: Original article Source Type: research
AbstractPurpose of ReviewThis review will discuss the genetic basis and epidemiology of Lynch syndrome, review Lynch Syndrome colorectal cancer screening guidelines, and summarize the screening guidelines pertaining to other cancers that are associated with Lynch syndrome.Recent FindingsAll colorectal tumors should be universally tested for microsatellite instability (MSI) changes regardless of the age of the patient. Genetic testing of family members of patients with Lynch syndrome has significant cost effectiveness implications. Polyethylene glycol bowel preparation and chromocolonoscopy improve screening exams. Aspirin ...
Source: Current Colorectal Cancer Reports - Category: Cancer & Oncology Source Type: research
We report a case of colorectal cancer (CRC) detected by short interval surveillance colonoscopy (SC) in a patient with LS having a past history of partial colectomy. A 65‐year‐old man underwent sigmoidectomy for advanced CRC. His family history revealed that his two younger brothers had CRC in their twenties and thirties, respectively, and the patient met with the criteria in the Revised Bethesda Guidelines. After confirming the loss of MSH2 protein expression in the primary tumor, subsequent genetic testing showed germ line mutation with a large deletion of exon 7‐14 in the MSH2 gene, indicating a diagnosis of LS. A...
Source: Digestive Endoscopy - Category: Gastroenterology Authors: Tags: Case Report Source Type: research
CONCLUSIONS: Rectal studding may be a sign of MYH-associated polyposis and raises questions about the biology of abnormal base excision repair.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contributions: Endoscopy Source Type: research
March is Colon Cancer Awareness Month, today’s TBT post provides some helpful information on colorectal cancer. Michelle was a healthy, active 47 year old. She tried to eat right and she exercised. It looked like the hard work was paying off: no health issues and lots of energy. Her work in the healthcare field motivated her to see her doctors regularly for checkups, to get mammograms and to have her blood work done annually. She knew she was getting close to the magical age of 50 and that soon she would need to get a colonoscopy to screen for colorectal cancer.  Since she had no family history of the disease sh...
Source: Disruptive Women in Health Care - Category: Consumer Health News Authors: Tags: Cancer TBT Source Type: blogs
Conclusion: VEGF-A is a promising target for molecular fluorescence endoscopy because it showed a high protein expression, especially in sessile serrated adenomas/polyps and Lynch syndrome. We demonstrated the feasibility to visualize small tumors in real time during colonoscopy using a NIR fluorescence endoscopy platform, providing the endoscopist a wide-field red-flag technique for adenoma detection. Clinical studies are currently being performed in order to provide in-human evaluation of our approach.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Basic Science Investigations Source Type: research
CONCLUSIONS: Most CRC survivors with LLS follow the same cancer screening recommended for LS patients but do not understand the meaning of LLS. Greater care must be devoted to communicating the implications of non-diagnostic germline mutation testing among patients with LLS. PMID: 26272410 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Michelle was a healthy, active 47 year old. She tried to eat right and she exercised. It looked like the hard work was paying off: no health issues and lots of energy. Her work in the healthcare field motivated her to see her doctors regularly for checkups, to get mammograms and to have her blood work done annually. She knew she was getting close to the magical age of 50 and that soon she would need to get a colonoscopy to screen for colorectal cancer.  Since she had no family history of the disease she wasn’t worried. She felt certain that, just as all her previous testing had come back normal, this one would t...
Source: Disruptive Women in Health Care - Category: Consumer Health News Authors: Tags: Cancer Source Type: blogs
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