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)

In the present study, we examined the expression and the localization of apamin-sensitive small conductance Ca(2+)-activated K(+) channels (SK channels) in the mouse intestine. SK3-immunoreactivity (IR) was detected in both ileum and colon. Double staining experiments showed that SK3-IR was colocalized with prolyl 4-hydroxylase (PH(alpha))-IR, but not with c-Kit-IR which are markers of fibroblast cells and the interstitial cells of Cajal (ICC), respectively. Although SK3-IR was colocalized with vimentin-IR, which is another marker of ICC, the reactivity of SK3-immunopositive cells was weaker than that of ICC. The SK3-immunopositive cells were similarly present in the intestine of c-Kit mutant mice (W/W(V)), in which ICC were absent, and its wild-type mice. The immuno-electron microscopic analysis indicated that SK3 was localized in the cells that had some similar morphological features to ICC, but obviously different from ICC. The SK3-immunopositive cells had gap junctions with the smooth muscle cells. The gap junctions were smaller than those between ICC and smooth muscle cells. These results indicate expression of SK3 in fibroblast-like cells, but not in ICC, and suggest participation of the cells in the intestinal motility.
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PMID:Localization of Ca2+-activated K+ channel, SK3, in fibroblast-like cells forming gap junctions with smooth muscle cells in the mouse small intestine. 1283 53

Chorioangiomas are benign angiomatous tumours of the placenta occurring with a frequency of approximately one per cent of all examined placentae. Hypoxia and genetic factors are discussed to be predisposing factors for chorioangiomas. However, not much is known about the tumorigenesis of these benign tumours. Screening with various antibodies in a rare case of chorangiomatosis, we found disseminated spindle cells coexpressing vascular epithelial growth factor (VEGF), neutral endopeptidase 24.11 (NEP/CD10), and KIT protein (CD117) within the tumour stroma. A possible involvement of such factors in angiogenesis and tumorigenesis of chorioangiomas/chorangiomatosis has not been studied so far.Seven placentae with chorioangiomas (n=6) or chorangiomatosis (n=1), six normal placentae, and four cutaneous haemangiomas were analysed immunohistochemically (ABC and APAAP methods) using antibodies against VEGF, NEP, KIT protein, as well as endothelial markers like PECAM-1 (CD31), CD34, v. Willebrand factor (factor VIII), and ulex europaeus. In addition, analysis of c-kit 'gain of function' mutation Asp 816 to Val by means of Hinfl digestion and direct sequencing of semi-nested polymerase chain reaction products was performed. All chorioangiomas and haemangiomas strongly expressed the endothelial markers CD34, CD31, and FVIII, while only weak expression of ulex lectin was noted. Disseminated groups of VEGF-, NEP-, and KIT protein-positive spindle cells, which coexpressed vimentin and smooth-muscle actin were identified as myofibroblasts in the stroma of four chorioangiomas. These spindle cells were quantified as numerous in two and as rare in two other cases. No VEGF-positive myofibroblasts, however, were detected in the villous stroma of normal control placentae and haemangiomas. Only scattered perivascular myofibroblasts expressing KIT protein and NEP were detected in early gestational placenta controls. In all chorioangiomas and chorangiomatosis PCR analysis failed to unveil c-kit 'gain of function' mutation Asp 816 to Val in KIT protein-positive spindle cells. Moreover, a significant increase in mast cells was observed only in the haemangiomas. As expected, endothelial origin of chorioangiomas/chorangiomatosis was verified by CD31, CD34, FVIII expression. Myofibroblastic spindle cells expressing VEGF and NEP may be precursor cells in these peculiar angiomatous tumours. Although activating c-kit mutation Asp 816 to Val was not detected by PCR, the presence of KIT protein (CD117)-positive intratumoral myofibroblastic spindle cells in chorioangiomas and chorangiomatosis might suggest involvement of the stem cell factor (SCF)-receptor in pathologically enhanced angiogenesis.
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PMID:VEGF-, KIT protein- and neutral endopeptidase (NEP/CD10)-positive myofibroblasts-precursors of angiogenesis in chorioangiomas? 1285 66

Arterial interstitial cells of Cajal (ICC)-like cells (AIL cells) with a multipolar, irregular, elongated shape and with numerous thin (often less than 1 microm), sometimes branching, processes with lengths up to approximately 60 microm were isolated enzymatically from 1st to 7th order branches of guinea-pig mesenteric artery. Some of the processes of AIL cells were growing (average speed approximately 0.15 microm min-1) and their growth was blocked by 10 microM latrunculin B, an inhibitor of actin polymerisation. Staining with BODIPY phalloidin, a fluorescent dye selective for F-actin, showed the presence of F-actin in the processes of AIL cells. Voltage clamp of single AIL cells revealed an inward current that was four times more dense than in myocytes and was abolished by 10 microM nicardipine, and an outward current carried exclusively by potassium ions that was reduced by 1 mM 4-aminopyridine and/or 100 nM iberiotoxin but unaffected by 10 nM dendrotoxin-K. Imaging of intracellular ionised calcium with fluo-4 using a laser scanning confocal microscope showed local or global calcium transients lasting several seconds in approximately 28 % of AIL cells. When membrane current was recorded simultaneously, the calcium transients were found to correspond to long-lasting transient outward currents, which occurred at potentials positive to -40 mV. Unlike myocytes, AIL cells did not contract in response to 1 mM caffeine or 5 microM noradrenaline, although they responded with a [Ca2+]i increase. The segments of intact arteries did not stain for c-kit, a marker of ICCs. Single AIL cells stained positive for vimentin, desmin and smooth muscle myosin. The presence of ICC-like cells is demonstrated for the first time in the media of resistance arteries.
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PMID:Non-contractile cells with thin processes resembling interstitial cells of Cajal found in the wall of guinea-pig mesenteric arteries. 1289 77

We describe a case in which segmental resection of the third portion of the duodenum was performed for a gastrointestinal stromal tumor (GIST). A 31-year-old woman was found to have a 3.5 cm hypovascular tumor at the posterior inferior aspect of the pancreatic head. Preoperative duodenal biopsy revealed that the tumor was positive for c-kit and vimentin, and was diagnosed as a duodenal GIST. Segmental resection of the third portion of the duodenum with papilloplasty and duodenojejunostomy was carried out and there were no postoperative complications. Pancreatoduodenectomy is not always necessary in the treatment of a duodenal GIST. This duodenectomy procedure can serve as a less extensive resection for a duodenal GIST located in the third portion of the duodenum.
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PMID:Segmental resection of the third portion of the duodenum for a gastrointestinal stromal tumor: a case report. 1294 65

To assess the relevance of spindle cell tumours in the canine gastrointestinal (GI) tract and to classify them, a retrospective study was carried out on haematoxylin and eosin-stained sections from formalin-fixed paraffin wax-embedded samples of 105 primary GI tumours. Seventeen out of 105 (16%) GI tumours were mesenchymal, 48% were epithelial and 36% were round cell tumours. Spindle cell tumours were stained by Masson trichrome, Orcein-Van Gieson and labelled immunohistochemically (vimentin, desmin, smooth muscle actin, protein S100, glial fibrillar acid protein, CD117 and MIB-1) and the histological grade, mitotic index, nuclear size and cellular density were also assessed. The 17 gastrointestinal mesenchymal tumours were classified as 10 leiomyomas (10/10 positive for desmin and smooth muscle actin; 6/10 positive for vimentin) 2 leiomyosarcomas (2/2 positive for desmin, smooth muscle actin and vimentin) and 5 gastrointestinal stromal tumours (GISTs) (5/5 positive for CD117 and vimentin; 3/5 positive for smooth muscle actin). Canine GISTs appeared as densely packed spindle cell tumours, with a diffuse, strong, cytoplasmic immunopositivity for c-kit protein (CD117). GISTs, defined as CD117-positive spindle cell or epithelioid or pleomorphic neoplasms that presumably derive from interstitial cells of Cajal, are reported in recent medical studies as the most common mesenchymal tumours of the GI tract. Our data suggest that GISTs represent a significant portion of canine GI spindle cell tumours, which can be definitely distinguished from leiomyosarcomas only by their expression of CD117.
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PMID:Gastrointestinal spindle cell tumours of the dog: histological and immunohistochemical study. 1455 26

A case of perivascular epithelioid cell tumor of the uterus is reported, occurring in a 32-year-old woman. The tumor (8.0 cm in dimension) showed exophytic growth from the outer half of the myometrium. Histopathologically, the tumor was composed of thick blood vessels and perivascular epithelioid cells. The neoplastic cells were strongly immunoreactive for HMB45 antigen, CD117 (c-kit), vimentin and the progesterone receptor, but completely negative for S-100 protein, smooth muscle actin, desmin, CD34, the estrogen receptor and p16. The Ki-67 labeling index was low (1.25%). Ultrastructurally, the neoplastic cells had numerous premelanosomes with some glycogen deposits. Single-stranded DNA conformational polymorphism of p53 and methylation-specific polymerase chain reaction of p16 revealed negative results. Definite melanosomes on electron microscopic analysis and coexpression of HMB45 antigen and stem cell factor receptor (CD117) may provide the clue to understanding perivascular epithelioid cell tumor because angiomyolipoma also coexpresses HMB45 antigen and CD117.
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PMID:Perivascular epithelioid cell tumor of the uterus: immunohistochemical, ultrastructural and molecular study. 1462 7

We report the case of a malignant, primary, hepatic gastrointestinal stromal tumor (GIST) that was resected from the liver of a 79-year-old woman. To our knowledge, this is the first primary, hepatic GIST on record. The tumor expressed CD117 (c-Kit protein) and vimentin and had the ultrastructural features of GISTs. Sixteen months after partial hepatectomy and resection of the tumor, a hilar lymph node metastasis was found. The metastatic tumor had the same morphologic features as the primary tumor, but in addition it contained numerous multinucleated giant cells. This case shows that GIST can occur as a primary liver tumor, and accordingly, we point out that not all hepatic tumors with a GIST phenotype should be automatically considered to be metastases from a primary gastrointestinal site.
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PMID:Primary malignant gastrointestinal stromal tumor of the liver. 1463 69

Spindle cell melanoma is a rare and distinctive variant of malignant melanoma that is composed of spindled neoplastic cells and includes desmoplastic and neurotropic melanoma. The lack of expression of several melanoma markers may result in a delayed or wrong diagnosis. In this study, we have analyzed in detail the phenotype of the tumor cells in 9 spindle cell melanomas on both paraffin-embedded and frozen material, using melanocytic, neural, and mesenchymal markers. The neoplastic cells expressed the melanocytic markers S-100, Mel-CAM, and NKIC3, but lacked gp100 and Melan-A; tyrosinase and c-Kit were expressed in 2 of 7 cases. Most cases expressed the neural markers p75-nerve growth factor receptor, neural cell adhesion molecule, and NSE. All cases expressed vimentin but lacked the mesenchymal markers CD34 and alpha-smooth muscle actin. Remarkably, all spindle cell melanomas strongly and diffusely expressed the fibroblastic markers Thy1 (CD90) and aminopeptidase N (CD13) and variably expressed the enzyme prolyl-4-hydroxylase, involved in procollagen formation. The coexpression of melanocytic, neural, and fibroblastic markers suggests bidirectional differentiation of neoplastic melanocytes toward (myo)fibroblasts and Schwann cells, a feature that was confirmed by electron microscopy. Furthermore, the lack of CD90 and CD13 staining in a wide range of melanocytic lesions suggests specificity of these markers for spindle cell melanoma.
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PMID:New phenotypical and ultrastructural findings in spindle cell (desmoplastic/neurotropic) melanoma. 1466 57

Plexiform schwannoma is a benign peripheral nerve sheath tumor composed exclusively of schwann cells arranged in a plexiform pattern. Most plexiform schwannomas are skin tumors and there has been only one case report of this tumor originating in the colon. We describe herein the first known case of plexiform schwannoma of the small intestine occurring without any relationship to schwannomatosis or neurofibromatosis. A 57-year-old man presented with a short history of abdominal pain, vomiting, and bloody stool after each meal. Jejunography demonstrated multiple nodular tumors in the small intestine. We resected the small intestine laparoscopically. The tumors consisted of multiple white nodules in the submucosal and subserosal layers. Microscopic examination revealed that each tumor was composed mainly of Antony A tissue, compatible with conventional schwannoma. Immunohistochemically, the tumors were positive for S-100, vimentin, and neuron-specific enolase, and negative for HHF35, Alpha-SMA, and c-kit. No evidence of recurrence has been found in 38 months of follow-up.
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PMID:Plexiform schwannoma of the small intestine: report of a case. 1466 89

Gastrointestinal stromal tumors (GISTs) are c-kit-positive tumors that may arise anywhere in the tubular gastrointestinal tract. Around 5% of the cases arise elsewhere in the abdominal cavity. Tumors originating in the omentum and mesentery have been reported.A 31-year-old woman presented with pelvic pain, a palpable pelvic mass, and elevated CA-125. Imaging showed innumerable pelvic and abdominal masses. Histopathology showed a GIST that was positive for c-kit and vimentin and negative for desmin and smooth muscle actin. The patient was started on imatinib mesylate. Six months after diagnosis the tumor has remained stable.GI stromal tumors (GIST) may initially present as pelvic mass with elevated CA-125. Imatinib mesylate is the current mainstay therapy for GISTs after surgery.
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PMID:Gastrointestinal stromal tumor presenting as a pelvic mass. 1467 90


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