Search results for "Polyposis coli"
showing 10 items of 20 documents
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With L…
2020
Contains fulltext : 220040.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients. METHODS: We combined clinical and molecular data from 3 studies. We obtained clinical data from 2747 patients with Lynch syndrome associated with variants in MLH1, MSH2, or MSH6 from Germany, the Net…
3D microvascular architecture of pre-cancerous lesions and invasive carcinomas of the colon.
2001
Despite the significance of tumour neoangiogenesis and the extensive knowledge on the molecular basis of blood vessel formation currently no quantitative data exist on the 3D microvascular architecture in human primary tumours and their precursor lesions. This prompted us to examine the 3D vascular network of normal colon mucosa, adenomas and invasive carcinomas by means of quantitative microvascular corrosion casting. Fresh hemicolectomy specimens from 20 patients undergoing cancer or polyposis coli surgery were used for corrosion casting, factor VIII and VEGF immunostaining. In addition, immunostaining was done on colorectal tissue from 33 patients with metastatic and non-metastatic carci…
STEM CELLS AND COLON CANCER
2012
The current concept of tumorigenesis suggests that cancers arise and are “driven” by cells with stem cell-like properties, known as cancer stem cells (CSCs), which share many functional and molecular features with normal stem cells. Self-renewal key pathways (e.g., Wnt, Notch, and Hedgehog) are tightly regulated in normal stem cells, but are impaired in CSCs. For instance, active Wnt pathway plays a crucial role in colon cancer pathophysiology, where deregulation of the adenomatous polyposis coli (APC) gene, a negative regulator of Wnt signaling, represents one of the earliest alterations in the multistep process of colon carcinogenesis, causing early adenoma formation. Normal colon stem ce…
Stromal SPARC contributes to the detrimental fibrotic changes associated with myeloproliferation whereas its deficiency favors myeloid cell expansion.
2012
Abstract In myeloid malignancies, the neoplastic clone outgrows normal hematopoietic cells toward BM failure. This event is also sustained by detrimental stromal changes, such as BM fibrosis and osteosclerosis, whose occurrence is harbinger of a dismal prognosis. We show that the matricellular protein SPARC contributes to the BM stromal response to myeloproliferation. The degree of SPARC expression in BM stromal elements, including CD146+ mesenchymal stromal cells, correlates with the degree of stromal changes, and the severity of BM failure characterizing the prototypical myeloproliferative neoplasm primary myelofibrosis. Using Sparc−/− mice and BM chimeras, we demonstrate that SPARC contr…
Small-Bowel Diagnosis in Patients with Familial Adenomatous Polyposis: Comparison of Push Enteroscopy, Capsule Endoscopy, Ileoscopy, and Enteroclysis
2009
BACKGROUND: Conventional upper endoscopy (EGD), EGD with side-view endoscope and ileoscopy are established procedures for endoscopic evaluation of patients with familial adenomatous polyposis (FAP). However, we still have little data on the frequency and relevance of adenomas in those parts of the small bowel which are not accessible to EGD and ileoscopy. Adenomas distal to the duodenum are found more often in FAP patients with known duodenal adenomas. The question is, whether these patients can benefit from additional endoscopic and/or radiographic examinations. METHODS: Between July 2001 and August 2006 we performed comparative small bowel studies with push enteroscopy (PE), capsule endos…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Familial adenomatosis polyposis-related desmoid tumours treated with low-dose chemotherapy: Results from an international, multi-institutional, retro…
2019
[Introduction] Desmoid tumour (DT) is a locally aggressive fibroblastic proliferative disease representing the most common extraintestinal manifestation of familial adenomatosis polyposis (FAP). As data on the activity of chemotherapy in these patients are limited, we examined the outcomes of patients treated with low-dose methotrexate (MTX)+vinca alkaloids (vinorelbine or vinblastine).
MUTYH-associated tumor syndrome: The other face of MAP
2022
MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic alterations are associated with colorectal polyposis and cancer. MUTYH-associated polyposis (MAP) is a condition which is inherited in an autosomal recessive manner. MAP patients, beyond colorectal cancer (CRC), may develop other types of tumors, including duodenal, breast, ovarian, pancreatic, bladder and skin cancers. Carriers of biallelic MUTYH likely pathogenic/pathogenic variants exhibit a high lifetime risk of CRC, though cancer risk evidence becomes less clear when monoallelic carriers and extraintestinal tumors are considered. However, several studies recently reported an increased genetic suscepti…
A urochordate putative homolog of human EB1, the protein which binds APC1
1996
Abstract The human EB1 protein has been cloned by virtue of its interaction with the C-terminus of the APC (adenomatous polyposis coli) protein, whose C-terminal truncated forms have been shown to accompany sporadic and familial forms of colorectal cancer. We have cloned a putative EB1 homolog from Botryllus schlosseri (Urochordata, Ascidiacea). The deduced protein is 287 amino acids long, and is identical with 48% of the residues in human EB1 and 24–25% in two yeast hypothetical proteins. We propose that such a high degree of conservation among EB1 homologs is indicative of an essential regulatory mechanism in eukaryotic cells.
Quantitative fluorescence determination of long-fragment DNA in stool as a marker for the early detection of colorectal cancer
2008
Background: A variety of molecular markers have been evaluated for the development of a non-invasive approach to the diagnosis of colorectal cancer. We aimed to validate the diagnostic accuracy, using the same threshold as in the previous pilot study, of fluorescent long DNA test as a relatively simple and inexpensive tool for colorectal cancer detection.Methods: A case-control study was conducted on 100 healthy subjects and 100 patients at first diagnosis of colorectal cancer. Human long-fragment DNA in stool was quantified by fluorescence primers and a standard curve and expressed in DNA nanograms.Results: We validated the 25-ng value, which emerged as the most accurate cut-off in the pil…