Low-level parental mosaicism in an apparent de novo case of Peutz –Jeghers syndrome

We report the case of a female found to have mosaicism for mutation in theSTK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz –Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the sameSTK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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The sequence of events leading to the development of colorectal cancer, currently the third most common malignancy in Western countries, is effectively disrupted by the resection of its precursor lesions. Colonoscopy is the mainstay in lesion detection, and endoscopic polypectomy is the conventional therapeutic response for the overwhelming majority of identified polyps. Approximately 2% of lesions are larger (>20  mm) and are laterally spreading lesions (LSLs). EMR is considered the standard of care for the majority of these because it has been proved to be safer, less resource-intensive, and less expensive than surgery.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Original article Source Type: research
ConclusionThe fluorescent marking clips were easily placed and recognized with a fluorescent laparoscope. This method is expected to be safe and risks of accidental puncture related to tattoo marking method can be reduced or almost eliminated.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionsTherapeutic decision-making according to SCI or AEI can reduce surgery for endoscopically resectable colorectal neoplasms.
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
Medtronic is taking some very big steps with artificial intelligence. The Dublin-based company is launching GI Genius – a system it said is the first to use AI to detect colorectal polyps. The product’s launch is taking place during United European Gastroenterology Week in Barcelona, Spain. GI Genius was developed by Cosmo Pharmaceuticals and has CE mark. Medtronic is bringing the solution to the market through a distribution agreement with the Dublin-based Cosmo Pharmaceuticals. The GI Genius module uses advanced artificial intelligence to highlight the presence of pre-cancerous lesions...
Source: MDDI - Category: Medical Devices Authors: Tags: Digital Health Source Type: news
ConclusionThe fusion fascia of Fredet is useful to achieve CME and D3-L in right colon cancers with reduced risk of intraoperative complications. This structure is particularly suitable for minimally invasive surgery; therefore, we encourage awareness of the fascia of Fredet by colorectal surgeons.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
Conclusions: We suggested that GB polyps are associated with proximal colon polyps. Colonoscopy may be a more effective strategy for screening proximal precancerous lesions among patients with GB polyps. The association between GB disease and colon polyps demands further prospective investigation. PMID: 31611916 [PubMed]
Source: Gastroenterology Research and Practice - Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research
Colon polyp surveillance now accounts for 25% of all colonoscopies performed. The evidence that colonoscopy surveillance reduces colorectal cancer (CRC) incidence or mortality is weak. The biology of the baseline lesions and quality of the baseline exam are two primary factors contributing to post-colonoscopy CRC. Prior recommendations for surveillance were based largely on the likelihood that patients with adenomas would develop advanced adenomas, a surrogate for CRC. There is now evidence that baseline colonoscopy findings are strongly associated with the risk of incidence or death from CRC.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
Abstract Colorectal cancer is one of the deadliest cancers worldwide. Effective screening, surveillance, and prevention can decrease its incidence, mortality and burden. This meta-analysis aims to provide a pooled estimation of 5-year survival rate for colorectal cancer based on topography codes and treatment in Iranian population. A systematic search for literature was done in international and national databases up to July 2018. Twenty-seven studies from 4929 articles met the eligible criteria. The overall pooled 5-year survival rate of colorectal cancer, colon, rectal and sigmoid were estimated 56% (95% CI: 49,...
Source: Neoplasma - Category: Cancer & Oncology Authors: Tags: Neoplasma Source Type: research
ConclusionsA focused training intervention was associated with a strong trend toward increased ADRs among certified endoscopists. While the described training interventions definitely show promise, further efforts around continuing professional developments activities are needed to more consistently improve ADRS among certified endoscopists.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
AbstractBackgroundColorectal cancer is the fourth most commonly diagnosed cancer in the United States. Approximately 3 –10% of the population has an increased risk for colorectal cancer due to family history and warrants more frequent or intensive screening. Yet,
Source: Trials - Category: Research Source Type: clinical trials
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