Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is postulated that the electric waves of the gut are generated by interstitial cells of Cajal (ICC). We hypothesized the presence of ICC in the rectum as initiating the rectal electric activity. The current study investigated this hypothesis. Two rectal specimens were taken from healthy areas of excised rectum of 22 rectal cancer patients (age 44.6+/-.2 SD years, 12 men, 10 women). The study specimens were subjected to c-kit immunohistochemistry. Controls for antisera specificity consisted of tissue incubation with normal rabbit serum substituted for the primary antiserum. C-kit positive branched ICC-like cells were detected in the rectal musculature of the studied specimens. They were distinguishable from the c-kit-negative non-branched smooth muscle cells and from the c-kit positive but non-branched mast cells. Immunoreactivity was absent in the negative controls. We have identified in the rectum for the first time cells with morphologic and immunologic phenotypes similar to the ICC of the gut. The role of these cells in normal physiologic and pathologic conditions of the rectum needs further studies.
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PMID:Identification of interstitial cells of Cajal in the human rectum. 1535 19

We report a case of a poorly differentiated epithelial tumour of the rectum with a highly pleomorphic morphology and an aberrant immunophenotype, including the expression of epithelial markers, the focal parameter of neuroendocrine differentiation, and the unexpected detection of CD-117 overexpression. A 69-year-old man was admitted to our clinic complaining of rectal bleeding and weight loss. Colonoscopy showed an ulcerative bleeding mass located about 8 cm from the anal verge. Abdominal and pelvis CT scans demonstrated a large low-density lesion with extracanalicular growth from the middle rectum, with local lymph-node spread, and without tumour infiltration of other pelvic organs, or evidence of distant intra-abdominal spread. The patient underwent a low anterior resection for rectal cancer together with wide resection of lymph nodes. In immunohistochemical analysis, pankeratin and Epithelial Membrane Antigen (EMA) immunolabeling proved the epithelial nature of the tumor cells. Chromogranin A and Leukocyte Common Antigen (LCA) were negative, whereas CD-56 expression was scanty and Neuron Specific Enolase (NSA) was heavily and diffusely expressed. Ki67 immunoexpression was particularly increased. Interestingly, the intense c-kit immunoreactivity (100%) was a common feature. The above phenotypic and immunohistochemical profile was consistent with an anaplastic carcinoma of the large intestine, with focal neuroendocrine differentiation and diffuse immunoreactivity to c-kit protein. Given the resistance of this tumor to conventional chemotherapy and radiation, the incidence of the c-kit alteration may represent a novel approach to a gene-directed treatment using a c-kit inhibitor (STI571) similar to that which has been proposed in GISTs.
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PMID:Poorly differentiated carcinoma of the rectum with aberrant immunophenotype: a case report. 1799 Mar 62