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)

The interstitial cells of Cajal (ICC) are found in a number of different locations in the gastrointestinal tract, where they form close associations with both muscle cells and nerve terminals. In this study we examined the embryological origin of ICC in the mouse intestine to determine whether they arise from the neural crest or from the intestinal wall. Segments of intestine were removed from embryonic mice either before or after the arrival of neural crest cells (the precursors of enteric neurons and glial cells) and transplanted under the renal capsule of host (adult) mice and allowed to develop for 18-41 days. In the mouse intestine, antibodies to c-kit protein selectively label ICC at a variety of locations, and antibodies to the NK1 receptor (the receptor for substance P) labels ICC at the level of the deep muscular plexus in the small intestine and a subpopulation of enteric neurons in the large intestine. The presence of neurons in the explants was examined using antisera to neuron-specific enolase, substance P, and calretinin. In segments of small and large intestine explanted after the arrival of neural crest cells, immunoreactive neurons and c-kit- and NK1-immunoreactive ICC were present with a distribution similar to that seen in control tissue at a similar developmental age. In segments of large intestine explanted before the arrival of neural crest cells, neurons were not present; however, c-kit-immunoreactive ICC were present in these aneuronal explants, indicating that ICC do not arise from the neural crest. The source of ICC in mammals is therefore likely to be the mesenchyme of the gut.
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PMID:Origin of interstitial cells of Cajal in the mouse intestine. 894 77

The immunohistochemical profile of cardiac myxoma has been debated. The tumor is thought to be derived from multipotential undifferentiated mesenchymal cells. A consistent marker for this tumor has not been found. In this article an immunohistochemical study of 23 cardiac myxomas was accomplished. This study comprised the immunoreactivity of the tumors for thrombomodulin, calretinin and and c-kit (CD117). To the best of our knowledge, thrombomodulin and c-kit have not been tested in cardiac myxoma. Calretinin expression has been recently demonstrated in cardiac myxoma, although this finding has not been yet validated. Surface lining cells, tumor vascular endothelium, cells around the vascular slits and stromal cells embedded in the myxoid matrix were assessed independently. All tumors showed reactivity for thrombomodulin in the surface cells and in the endothelium of neoplastic vessels. 82.6% of cardiac myxomas expressed thrombomodulin in the stromal cells and 69.6% of the tumors were reactive in the perivascular cells. 73.9% of cardiac myxomas expressed calretinin in the stromal cells and in the perivascular cells. All myxomas were negative for c-kit. Thrombomodulin and calretinin may be important diagnostic aids for cardiac myxoma. Cardiac myxoma cells do not express embryonic/fetal endothelial antigens.
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PMID:Thrombomodulin, calretinin and c-kit (CD117) expression in cardiac myxoma. 1164 22

Desmoplastic small round cell tumor is a rare tumor typically involving peritoneum. Although the histogenesis of desmoplastic small round cell tumor has yet to be elucidated, immunophenotypical and morphological analysis shows a characteristic divergent phenotype overlapping with other round cell tumors such as Ewing's sarcoma/primitive neuroectodermal tumor, rhabdomyosarcoma, small cell mesothelioma, and carcinoma. Detection of the EWS-WT1 gene fusion is characteristic of desmoplastic small round cell tumor and has been used reliably in tumor diagnosis. In this study, we evaluated the immunophenotype of 23 desmoplastic small round cell tumor cases with the EWS-WT1 gene fusion product identified by reverse transcription-polymerase chain reaction. Paraffin sections were stained with antibodies against calretinin, WT1 (C19), desmin, myoglobin, MyoD, Myf5, myogenin, placental alkaline phosphatase, cytokeratins, MIC2, HER2/neu and c-kit using standard immunohistochemical methods. Immunoreactivity was evaluated semiquantitively by light microscopy. Desmoplastic small round cell tumors showed reactivity with calretinin in 4/21, desmin in 21/23, myoglobin in 5/17, placental alkaline phosphatase in 17/21, HER2/neu in 7/18 (3+ in 1 and 1+ in 6), c-kit in 2/14, MIC2 in 13/23, WT1 in 16/23, CAM5.2 in 21/23, and AE1/3 in 16/23 cases. The most sensitive myogenic and epithelial markers are desmin and CAM 5.2. Although nuclear reactivity of the early myogenic regulatory factors (MyoD, myogenin, Myf5) was not detected, myoglobin immunoreactivity was present in 29% of desmoplastic small round cell tumors. HER2/neu overexpression (3+) and c-kit expression are uncommon in desmoplastic small round cell tumors. A panel of myogenic and epithelial markers should be used to detect the divergent phenotype in desmoplastic small round cell tumors, a key feature in the differential diagnosis. Detection of EWS-WT1 fusion becomes critical for the diagnosis when the characteristic divergent phenotype cannot be detected immunohistochemically.
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PMID:Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product. 1264 Jan 3

Morphologic distinction between adrenal cortical and medullary tumors can be difficult. Previous studies have shown inhibin, melan-A, and BCL-2 to be useful markers for adrenal cortical tumors. We have recently observed a high level of calretinin expression in normal adrenal cortex but not the medulla and therefore evaluated its diagnostic application for adrenal tumors in comparison with inhibin, melan-A, and BCL-2. C-kit is a transmembrane tyrosine kinase receptor. Immunodetection of c-kit expression has been recently used for tumor diagnosis, and c-kit-positive tumors can potentially benefit from kit kinase inhibitor treatment. Although c-kit expression was reported in adrenal medulla and pheochromocytoma, it has not been evaluated in adrenal cortical tumors. In this study, 28 adrenal cortical tumors (12 carcinomas, 16 adenomas), 20 pheochromocytomas, and 20 extraadrenal paragangliomas were evaluated for calretinin, inhibin, melan-A, BCL-2, and c-kit expression by standard immunohistochemical assays on paraffin sections. The percentage of immunoreactivity in adrenal cortical tumors was as follows: calretinin, 96%; melan-A, 89%; inhibin, 92%; BCL-2, 20%; and c-kit, 5%. Normal adrenal medulla did not stain for c-kit but was positive for BCL-2. Eighty-six percent of pheochromocytomas stained for BCL-2 and none for calretinin, with the exception of the ganglioneuromatous areas in composite pheochromocytomas (n = 5). Extraadrenal paragangliomas showed reactivity with calretinin in 25%, melan-A in 5%, inhibin in 16%, BCL-2 in 38%, and c-kit in 8% of the cases. Our results indicate that calretinin is the most sensitive among all the adrenal markers tested. Like melan-A and inhibin, calretinin is also a very specific marker in differentiating cortical from medullary adrenal tumors. In addition, calretinin can be used to confirm a composite pheochromocytoma. BCL-2 does not appear to be useful in differentiating adrenal cortical from medullary tumors. C-kit is not useful in the diagnosis of adrenal tumors, and kit kinase inhibitor might have a limited role in the treatment of adrenal tumors and paraganglioma because of the low frequency of c-kit expression in these tumors.
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PMID:The role of calretinin, inhibin, melan-A, BCL-2, and C-kit in differentiating adrenal cortical and medullary tumors: an immunohistochemical study. 1280 65

Diffuse malignant mesothelioma of the peritoneum is a rare diagnosis. Despite many histopathologic similarities between peritoneal and pleural tumors, clinical and prognostic features may be quite different. There is a paucity of data evaluating molecular features of peritoneal mesotheliomas. Therefore, we compared the results of a battery of immunohistochemical markers, some with therapeutic implications, in patients with primary peritoneal or pleural mesotheliomas. We examined 24 peritoneal and nine pleural malignant mesotheliomas with a battery of immunohistochemical markers (cytokeratin AE1/3, calretinin, c-kit/CD117, desmin, epidermal growth factor receptor (EGFR), estrogen receptors (ER), progesterone receptors (PR), MIB-1, and cleaved caspase-3) in an attempt to distinguish any differences in this tumor arising in these two distinct locations. The results indicate that the only marker to show a significant difference in its staining pattern between these two sites was EGFR (P=0.0004). In all, 92% (22/24) of peritoneal tumors demonstrated 3+ or 4+ immunoreactivity with EGFR, opposed to only 33% (3/9) pleural tumors. There was no significant difference in immunoreactivity between the pleural and peritoneal tumors with c-kit, ER, PR, cleaved caspase 3, calretinin, and desmin. There was a trend toward increased cytokeratin (P=0.07) and MIB-1 (P=0.08) expression in the peritoneal group. There was no significant difference in age, sex, or histologic subtype between the two locations. In conclusion, despite similarities between peritoneal and pleural mesothelioma, there are differences between this neoplasm arising in these two sites. The EGFR expression is more pronounced in peritoneal tumors compared to pleural tumors. The increased expression of EGFR in the peritoneal lesions may be of clinical significance with the recent emergence of epidermal growth factor receptor-targeted therapies.
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PMID:Diffuse malignant mesothelioma of the peritoneum and pleura, analysis of markers. 1497 33

We studied 25 cases of schwannoma and 42 cases of neurofibroma immunohistochemically with antibodies to calretinin and S-100 protein to explore the potential usefulness of calretinin in differentiating schwannomas from neurofibromas. Of 25 schwannomas, 24 (96%) showed moderate to strong staining for calretinin, with the extent of staining ranging from focal to diffuse. In contrast, only 3 (7%) of 42 neurofibromas displayed focal weak to moderate staining with calretinin. All 42 cases of neurofibromas and all 25 cases of schwannomas showed diffuse moderate to strong staining with S-100 protein. Calretinin also labeled mast cells, whose presence was confirmed further by staining for c-kit, which commonly was present in both tumor types in a scattered individual cell pattern easily differentiated from the clustered pattern of neoplastic spindle cells. Taken together, these results indicate that calretinin is detected in almost all schwannomas and in only a small percentage of neurofibromas, suggesting it is a useful marker for differentiating schwannomas from neurofibromas. Although mast cells present in these 2 neoplasms also react with calretinin, the pattern of staining can be distinguished easily from that of neoplastic cells.
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PMID:Immunohistochemical staining for calretinin is useful for differentiating schwannomas from neurofibromas. 1548 53

Immunohistochemistry has become an important tool in the diagnosis of ovarian tumors. This article reviews the role of immunohistochemistry in the differential diagnosis of the three main categories of ovarian tumors, with emphasis on recently developed antibodies. In the surface epithelial stromal category the most common problem is its discernment from metastasis. The use of differential cytokeratins, primarily CK7 and CK20, as well as Cdx-2, beta-catenin, and P504S in differentiating between metastatic adenocarcinoma, particularly of colorectal origin, and primary ovarian carcinoma is discussed. Dpc4 may be useful in distinguishing pancreatic from ovarian mucinous carcinomas, because up to 55% of pancreatic carcinomas lack Dpc4 expression, whereas the differential expression of mucin genes may be helpful in distinguishing between primary ovarian mucinous and metastatic tumors. Urothelial markers (thrombomodulin and uroplakin III) and renal cell carcinoma markers (CD10 and renal cell carcinoma marker) can be helpful in the diagnosis of metastatic urothelial and renal cell tumors to the ovary. The roles of inhibin, calretinin, CD99, and other recently described markers in the diagnosis of sex cord-stromal tumors are reviewed. The uses of OCT-4 (POU5F1) (a new highly sensitive and specific marker of dysgerminoma and embryonal carcinoma), CD30, and c-kit are also discussed.
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PMID:Immunohistochemistry as a tool in the differential diagnosis of ovarian tumors: an update. 1562 16

Although most testicular and paratesticular tumors can be recognized by their light microscopic features, some raise significant differential diagnostic questions. Immunohistochemical staining has proved of significant value in this situation. There is still a role for the traditional markers, including placental-like alkaline phosphatase and alpha-fetoprotein, but newer markers provide additional support and often have greater sensitivity and specificity for many diagnoses. OCT4 is virtually 100% sensitive and specific for seminoma, embryonal carcinoma, and intratubular germ cell neoplasia, unclassified type. Inhibin-alpha, among testicular tumors, is limited to those in the sex cord-stromal category or those having adrenocortical-type differentiation (testicular tumor of the adrenogenital syndrome) or of trophoblastic lineage. Calretinin is another positive marker for the sex cord-stromal tumors but has less specificity. Additional markers, including differential cytokeratins, c-kit, CD30, epithelial membrane antigen, S-100, melan-A, and others, are useful in specific situations. This article reviews the application of immunohistochemical markers for a number of differential diagnostic considerations in the testis and paratestis categorized according to their light microscopic patterns.
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PMID:The use of immunohistochemistry in the differential diagnosis of tumors of the testis and paratestis. 1651 98

Computed tomography revealed a well-enhanced omental mass. Magnetic resonance imaging demonstrated a mass with low signal intensity on T1-weighted images (WI) and high signal intensity on T2-WI. Resected specimens immunohistochemically showed positive results for alpha-smooth muscle actin, muscle-specific actin (HHF35) and vimentin, and negative results for S-100 protein, CD34, desmin, EMA, keratin, calretinin, HBME1, and c-kit. This is the first case of an omental glomus tumor reported in the English literature.
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PMID:Glomus tumor of the omentum: a case report. 1770 47

Various pathological abnormalities of smooth muscle and innervation result in clinical syndromes with disordered motility of the small intestine and colon. Although these abnormalities have been extensively reported clinically, their pathologic changes and pathophysiologic mechanisms have not been well elucidated. We report a case of visceral neuropathy with secondary muscle changes in a 7-yr-old ventilator dependent, mentally retarded child who presented with a history of chronic constipation and symptoms of intestinal obstruction. The muscle layer of the colectomy specimen showed extensive infiltration of vacuolated cells that were positive for S-100 and synaptophysin but negative for glial fibrillary acidic protein (GFAP) and neural filament protein (NFP). Calretinin positivity was preserved in submucosal ganglion cells but was absent in vacuolated nerve branches. Masson's trichrome stain showed evidence of fibrosis, indicative of muscle damage. There was a reduced number of intestinal cells of Cajal in the muscularis propria, as indicated by CD117 (c-kit) immunostaining. This disorder is most likely a sporadic visceral neuropathy, secondarily affecting muscular function, that causes colonic pseudo-obstruction.
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PMID:Unusual type of colonic neuromuscular disorder with extensive vacuolization. 1846 60


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