Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0699790 (colon cancer)
28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial adenomatous polyposis (FAP) is an autosomal dominant, hereditary colon cancer syndrome that is characterized by the presence of innumerable adenomatous polyps in the colon and rectum. Gardner's syndrome is a variant of FAP, which in addition to the colonic polyps, also presents extracolonic manifestations, including desmoid tumors, osteomas, epidermoid cysts, various soft tissue tumors, and a predisposition to thyroid and periampullary cancers. Mutations of the APC gene are thought to be responsible for the development of FAP, and the location of the mutation on the gene is thought to influence the nature of the extracolonic manifestations that a given patient might develop. Though patients are often asymptomatic, bleeding, diarrhea, abdominal pain and mucous discharge frequently occur. Diagnostic tools include genetic testing, endoscopy, and monitoring for extra-intestinal manifestations. Currently, surgery is the only effective means of preventing progression to colorectal carcinoma. Restorative proctocolectomy with ileal pouch anal anastomosis (RPC/IPAA) with mucosectomy is the preferred surgical procedure, since it attempts to eliminate all colorectal mucosa without the need for an ostomy. Periampullary carcinoma and intra-abdominal desmoid tumors are a significant cause of morbidity and mortality in these patients after colectomy. Frequent endoscopy is needed to prevent the former, while there is no definitive treatment available yet for the latter. The following article presents a case and reviews the evaluation, management and treatment of Gardner's syndrome.
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PMID:Familial polyposis coli: clinical manifestations, evaluation, management and treatment. 1559 57

Desmoplastic fibroma of bone is a very rare primary bone tumor morphologically resembling desmoid-type fibromatosis, its much more common counterpart of soft tissue. The aim of this study is to investigate the immunohistochemical profile and the involvement of the beta-catenin pathway in desmoplastic fibroma as it is known in desmoid-type fibromatosis. Immunohistochemistry was performed on 13 cases of desmoplastic fibroma for muscle-specific markers, estrogen and progesterone receptors, CD117, beta-catenin, and the potential downstream target of beta-catenin, namely, cyclin D1. In all 13 cases, DNA sequencing was performed for the detection of activating beta-catenin gene mutations. There was no immunoreactivity of CD117, estrogen, and progesterone receptors. Seven cases were immunoreactive for one or more muscle-specific markers. In 6 cases, there was overexpression of beta-catenin in the cytoplasm; in one of these cases, there was also accumulation of beta-catenin in the nucleus. In 6 cases in which DNA sequencing was successful, no beta-catenin mutations were detected. Search in a national database showed that not a single case over a frame of 23 years was associated with occurrence of colon cancer in the same patient. The epidemiological, histological, and immunohistochemical findings in desmoplastic fibroma are suggestive of desmoplastic fibroma being the bony counterpart of the more common desmoid-type fibromatosis of soft tissue. However, the beta-catenin pathway does not seem to have the same essential role in the tumorigenesis of desmoplastic fibroma, as it has in desmoid-type fibromatosis.
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PMID:Desmoplastic fibroma of bone: an immunohistochemical study including beta-catenin expression and mutational analysis for beta-catenin. 1615 68

Familial adenomatous polyposis (FAP) is an inherited condition causing numerous adenomatous colorectal polyps and a markedly elevated risk of colon cancer. FAP may be associated with various extracolonic manifestations such as desmoid fibromatosis and osteomas (termed Gardner's syndrome) and brain tumors, usually medulloblastoma or glioma [termed Brain Tumor Polyposis (BTP) syndrome type 2]. We describe a pediatric patient who initially presented with prolactinoma and later was found to have Gardner's syndrome. A germline mutation of the APC (adenomatous polyposis coli) gene was identified. Our case illustrates the association between prolactinoma and FAP, which may represent a rare subtype of Gardner's and BTP syndromes.
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PMID:Prolactinoma as the first manifestation of Gardner's syndrome. 1686 50

The carcinoembryonic antigen cell adhesion molecule 1 (CEACAM1) is downregulated in colonic and intestinal hyperplastic lesions as well as in other cancers, where it functions as a tumor suppressor. To investigate the functions of CEACAM1 in the normal intestine and in intestinal tumors, we generated a compound knockout mouse model and examined both Ceacam1(-/-) and Apc(1638N/+):Ceacam1(-/-) mice. Ceacam1(-/-) intestinal cells exhibited a significant decrease in apoptosis, with no change in proliferation or migration, however. Compound Apc(1638N/+):Ceacam1(-/-) mice demonstrated an increase in intestinal tumor multiplicity and tumor progression. Increases in intussusceptions and desmoid lesions were also observed. We have shown that CEACAM1-L associates with beta-catenin by co-immunoprecipitation and colocalization in CEACAM1-L-transfected CT26 and CT51 mouse colon carcinoma cells. Ceacam1(-/-) enterocytes displayed decreased glycogen synthase kinase 3-beta activity with corresponding nuclear localization of beta-catenin. Increased T-cell factor/Lef transcriptional activity was observed in CEACAM1-null CT51 colonic cells and in Caco2 colon cancer cells in which CEACAM1 was downregulated. A significant increased expression in c-Myc and cyclin D1 targets of the Wnt signaling pathway was also revealed in the Ceacam1(-/-) intestine. CEACAM1 therefore actively participates in Wnt signaling in intestinal cells and its downregulation in intestinal tissue contributes to malignancy by augmenting tumor multiplicity and progression.
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PMID:Intestinal tumor progression is promoted by decreased apoptosis and dysregulated Wnt signaling in Ceacam1-/- mice. 1845 75

Biallelic mutation of the ADENOMATOUS POLYPOSIS COLI (APC) gene is a hallmark of sporadic colorectal cancer and colorectal, duodenal and desmoid tumours that develop in familial adenomatous polyposis (FAP) patients. The mutations affecting both APC alleles are interdependent, the position of the first APC mutation determining where the second hit will occur. This results in a complex pattern of mutation distribution in the APC sequence that translates into the stabilization of beta-catenin that in turn feeds the affected cells with a permanent mitogenic signal. We describe here a new APC domain, the beta-catenin inhibitory domain (CID) of APC located between the second and third 20 amino acid repeats and therefore present in many truncated APC products found in human tumours. In truncated APC, the CID is absolutely necessary to down-regulate the transcriptional activity and the level of beta-catenin, even when an axin/conductin binding site is present. The activity of the CID is dramatically reduced in several colon cancer cell lines and can be inhibited by shorter truncated APC lacking the CID. The CID is a direct target of the selective pressure acting on APC during tumourigenesis. It explains the interdependence of both APC mutations, not only in colorectal but also in duodenal and desmoid tumours.
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PMID:Beta-catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumours. 1885 59

Desmoid tumors are rare, benign fibromatous lesions that result from the abnormal proliferation of myofibroblasts. A 61-year-old man underwent laparoscopy-assisted right hemicolectomy for ascending colon cancer. The final TNM stage was stage IIIB (T3N1M0). Follow-up computed tomography (CT), done 12 months after primary surgery, showed a nodular, enhancing soft-tissue density mass, 12 mm in size, in the mesentery, near the anastomosis. Another CT scan, done 4 months later, revealed that the tumor had enlarged to 27 mm in size. We suspected locoregional recurrence of colon cancer and resected the tumor, together with the distal ileum and colon, including the previous anastomotic site. The tumor was histologically diagnosed as a desmoid tumor. The patient remains well 24 months after his last operation. Differentiating between the desmoid tumor and locoregional recurrent tumor was difficult, and surgical resection was the optimal treatment.
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PMID:Intra-abdominal desmoid tumor mimicking locoregional recurrence after colectomy in a patient with sporadic colon cancer: report of a case. 2153 52

The Sterile Alpha Motif Domain-containing 9 (SAMD9) gene has been recently emphasized during the discovery that it is expressed at a lower level in aggressive fibromatosis and some cases of breast and colon cancer, however, the underlying mechanisms are poorly understood. Here, we found that SAMD9 is down-regulated in human non-small cell lung cancer (NSCLC). Furthermore, knockdown of SAMD9 expression is increased the invasion, migration and proliferation in H1299 cells in vitro and overexpression of SAMD9 suppressed proliferation and invasion in A549 cells. Finally, depletion of SAMD9 increases tumor formation in vivo. Our results may provide a strategy for blocking NSCLC tumorigenesis and progression.
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PMID:Overexpression of SAMD9 suppresses tumorigenesis and progression during non small cell lung cancer. 2545 Mar 73

A 46-year-old man presented to our hospital for further examination following a positive fecal occult blood test. He also had a painless, palpable scrotal mass that had been present for several years, but he had not previously sought treatment. Colonoscopy demonstrated multiple adenomatous polyps and colon cancer ; when taken together with his family history, these findings led to the diagnosis of familial adenomatous polyposis. A computed tomography scan revealed a right intrascrotal tumor, and the patient was referred to our department. Together with digestive surgeons, we carried out scrotal mass resection and colectomy under general anesthesia. On scrotal exploration, a large, solid mass was identified ; it was separate from the testis and epididymis. Although the mass was adhered to the surface of the corpus cavernosum penis, we were able to completely resect the mass along with part of the corpus cavernosum penis. The tumor was composed of abundant collagen fibers and mature fibroblasts. Histopathology revealed the right scrotal mass to be a desmoid tumor. The patient is alive with no evidence of disease 24 months after surgery.
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PMID:[Scrotal desmoid tumor in a patient with familial adenomatous polyposis]. 2565 17

We report on a 30-year-old man with familial adenomatous polyposis (FAP ) who developed advanced sigmoid colon cancer with desmoid tumors. The patient initially presented with melena. FAP advanced sigmoid colon cancer was diagnosed following a laparoscopy-assisted proctocolectomy in 2007. A computed tomography (CT) scan, conducted 7 months later, revealed a tumor around the branch of the common iliac artery. We diagnosed sigmoid colon cancer recurrence and attempted treatment by surgical removal. However, there were many smooth tumors within the patient's abdomen, which were diagnosed as desmoid tumors using rapid intraoperative pathological diagnosis. Although the patient was administered a COX-2 inhibitor and tamoxifen after surgery, the tumor grew. Dacarbazine (DTIC) and doxorubicin (DOX) were subsequently administered to the patient, and after 4 courses, the tumor was reduced by 60% and stable disease (SD) was achieved. In 2009, a CT scan indicated sigmoid colon cancer recurrence in the liver. The patient underwent a left hepatic lobectomy by laparoscopy-assisted surgery. To date, 4 years and 6 months after surgery, we have been unable to find new disease or desmoid tumor growth.
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PMID:[A case of desmoid tumor and advanced sigmoid colon cancer with liver metastasis in familial adenomatous polyposis (FAP)]. 2573 23

Familial adenomatous polyposis has an autosomal dominant pattern of inheritance. Colon cancer occurs frequently as a result of colorectal adenoma. The standard treatment is total proctocolectomy. However, it is reported that duodenal papilla cancer and desmoid tumors can also occur alongside colon cancer. We report a patient with duodenal papilla cancer who underwent total proctocolectomy 22 years previously. The patient was a 47-year-old man who had undergone a total proctocolectomy at the age of 25 years for familial adenomatous polyposis. On abdominal CT, duodenal papilla cancer that was suspected to be malignant was found. Using single-balloon enteroscopy, duodenal papilla cancer was diagnosed and pancreatoduodenectomy was performed. Seventeen months after surgery, liver and lung metastases were diagnosed. We began to provide palliative treatment, but the patient died 7 years 10 months after surgery.
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PMID:[A Case of Duodenal Papilla Cancer 22 Years after Total Proctocolectomy for Familial Adenomatous Polyposis]. 2813 51


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