Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

AbstractTheAXIN2 gene, likeAPC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations inAXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of publishedAXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant inAXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11 –22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous). This highlights the importance of confirming phenotypic information in familial polyposis, to guide appropriate genetic investigations, as well as providing additional phenotypic and penetrance data to aid in clinical risk management recommendations. Our experience supports the inclusion ofAXIN2 on panels for testing of patients with polyposis.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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In this study, we examined whether HASPIN inhibitor CHR-6494 suppresses cancer progression in ApcMin/+ mice, a familial colon tumor disease model. Mice were treated by intraperitoneal injection of CHR-6494 for 50 days. Following the treatment period, intestinal polyps were counted and testosterone and spermatogenesis levels were observed. Intraperitoneal administration of CHR-6494 significantly inhibited intestinal polyp development and recovered body weight in ApcMin/+ mice. Although spermatogenesis was inhibited with increasing age in ApcMin/+ mice, CHR-6494 significantly improved blood testosterone levels and spermatoge...
Source: European Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Gastrointestinal cancer Source Type: research
Conclusions Using a relatively small set of publicly-available colonoscopy data, we obtained sizable training and validation sets of endoscopic images using data augmentation, and achieved an excellent performance in adenomatous polyp detection. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: Endoscopy International Open - Category: Gastroenterology Authors: Tags: Original article Source Type: research
CONCLUSIONS: Calcium alone or in combination with vitamin D may reduce the risk of SCC, but not BCC. This trial was registered at clinicaltrials.gov as NCT00153816. PMID: 33022713 [PubMed - as supplied by publisher]
Source: The American Journal of Clinical Nutrition - Category: Nutrition Authors: Tags: Am J Clin Nutr Source Type: research
Fluorescence molecular endoscopy (FME) is an emerging technique that has the potential to improve the 22% colorectal polyp detection miss-rate. We determined the optimal dose-to-imaging interval and safety of FME using EMI-137, a c-Met–targeted fluorescent peptide, in a population at high risk for colorectal cancer. Methods: We performed in vivo FME and quantification of fluorescence by multidiameter single-fiber reflectance/single-fiber fluorescence spectroscopy in 15 patients with a dysplastic colorectal adenoma. EMI-137 was intravenously administered (0.13 mg/kg) at a 1-, 2- or 3-h dose-to-imaging interval (n = 3 ...
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Clinical Source Type: research
Colonoscopy is the most commonly performed endoscopic examination worldwide and is considered the gold standard for colorectal cancer screening.The quality of examination and endoscopic treatment is affected by a number of factors that are verified by recognized parameters, such as cecal intubation rate and time, withdrawal time, adenoma detection rate and polyp detection rate.The aim of the study was to assess the suitability of 330-degree panoramic colonoscopy for the detection of colorectal lesions and to analyze the functionality of a special endoscope series in regard to cecal intubation rate, cecal intubation time, and withdrawal time.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Colon and rectal surgery Source Type: research
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Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research
Conclusions: Adenomatous polyps are very important in childhood because of rarity. In particular, the presence of cafe au lait spots and a history of malignancy detected in relatives at an early age must be considered for CMMRD.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
bel Trias José Ignacio Busteros Gemma Mateu Francesc Balaguer María-Teresa Fernández-Figueras Manel Esteller Eva Musulén The use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the present study was to demonstrate that EPCAM IHC is a useful tool to guide the LS germ-line analysis when a loss of MSH2 expression was present. We retrospectively studied MSH2 and EPCAM IHC in a large series of 190 lesions composed of malignant neoplasms (102), p...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
AbstractPurposeIGF-1Ec is an isoform of Insulin-like growth factor 1 (IGF-1) and has recently been identified to be overexpressed in cancers including prostate and neuroendocrine tumours. The aim of this paper is to investigate the expression of IGF-1Ec in colorectal cancer and polyps compared to normal colon tissues and its association with recurrent disease using semi-quantitative immunohistochemistry.MethodsImmunohistochemistry for IGF-1Ec expression was performed for colorectal cancer, colorectal polyps and normal colonic tissues. The quantification of IGF-1Ec expression was performed with the use of Image J software a...
Source: Journal of Cancer Research and Clinical Oncology - Category: Cancer & Oncology Source Type: research
A 64-year-old man presented with large colon polyp detected by screening colonoscopy. The colonoscopy showed a 20-mm pedunculated polyp with a thick and bulging stalk in the sigmoid colon (Figure A). Endoscopic ultrasonography revealed that the stalk consisted of a low echoic structure in the submucosa, considering of a cystic component (Figure B, arrows). Although the polyp was suspected of an invasive cancer, biopsies from the polyp head revealed tubular adenoma. Endoscopic resection was performed for pathological diagnosis and local treatment at the patient ’s request.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Tags: Electronic Image of the Month Source Type: research
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