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)

42 gastrointestinal mesenchymal tumors are analyzed by the authors with characterization of immunohistochemistry and DNA study. Out of 42 tumors, 29 GIST 3 leiomyoma, 4 leiomyosarcoma, 3 benign schwannoma, 1 soliter fibrous tumor, 1 inflammatory myofibroblastic tumor and 1 benign haemangiopericytoma were found. All 29 GIST but two could be characterized by c-kit (CD-117) and CD-34 positivity independently weather they displayed focal neurogenic and/or myogenic immunomarkers. In GIST group, 10 cases were benign, 6 borderline and 13 malignant. All benign cases were euploid by DNA study, the malignant tumours were highly aneuploid. Concerning the borderline GIST group by morphology, the aneuploid DNA content may speak for malignant biological behavior, and the diploid DNA content in low grade malignant GIST by morphology may speak for better outcome in the malignant group. There is a discussion about the nomenclature of this morphological group, about the role of the c-kit gene and the necessity of the immunohistochemistry and DNA content determination.
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PMID:[Gastrointestinal stromal tumors. Observations on the basis of 29 cases]. 1177 55

Glomus tumors usually occur in the peripheral soft tissues, but similar tumors have also been reported in the stomach and occasionally in the intestines. However, the relationship of these tumors to peripheral glomus tumors and gastrointestinal stromal tumors has not been fully clarified because previous series of gastrointestinal glomus tumors predate availability of immunohistochemistry. This clinicopathologic study examined 32 gastrointestinal glomus tumors. All but one of the tumors were located in the stomach and the remaining tumor was from the cecum. The tumors occurred with a strong female predominance (23 females and 9 males) and a median age of 55 years (range 19-90 years). The gastric tumors typically presented with gastrointestinal bleeding or ulcer-like symptoms, and 14 tumors had mucosal ulceration. Five tumors were incidental findings. The tumor sizes varied from 1.1 to 7 cm (median 2 cm), and most were located in the antrum. Histologically, the tumors typically had a solid pattern of sharply demarcated, round glomus cells with prominent, mildly dilated pericytoma-like vessels. Vascular invasion and focal atypia were relatively common (seen in 11 and 13 cases, respectively), and low mitotic activity (1-4 per 50 high power fields), was seen in 10 cases. Immunohistochemically, all tumors were positive for alpha-smooth muscle actin and calponin, and nearly all had a net-like pericellular laminin and collagen type IV positivity. All tumors were negative for desmin and S-100 protein. Three tumors had focal synaptophysin positivity, but none was positive for chromogranin. All tumors lacked KIT expression and the GIST-specific mutations in the c-kit gene. Follow-up revealed one patient death of metastatic disease to liver at 50 months; this tumor had 1 mitosis per 50 high power fields, but had spindle cell foci, mild atypia, and vascular invasion. Thirteen patients were well and alive after long-term follow-up. Gastrointestinal glomus tumors occur almost exclusively in the stomach, and they have a good overall prognosis, but a small, unpredictable potential for malignant behavior exists. These tumors are phenotypically similar to peripheral glomus tumors and differ from epithelioid GISTs.
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PMID:Gastrointestinal glomus tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 32 cases. 1185 1

In this study we analyzed the clinicopathologic features of duodenal smooth muscle or stromal tumors, including 156 GISTs, 6 leiomyomas (LMs), and 5 leiomyosarcomas (LMSs) from the files of the Armed Forces Institute of Pathology and the Haartman Institute of the University of Helsinki. GISTs were documented as KIT positive (n = 109); 47 tumors were also included because of their histologic identity to KIT-positive cases. GIST-specific c-kit gene mutations were documented in exon 11 in 9 of 30 cases (30%) and exon 9 in 4 of 30 cases (13%). The GISTs occurred in patients with an age range of 10-88 years (median 56 years); 54% were male. Ten patients had neurofibromatosis type I; six of them had multiple GISTs. The GISTs ranged from small asymptomatic intramural or external nodules to large masses that extended into the retroperitoneum (median size 4.5 cm). They were mostly spindle cell tumors; three malignant GISTs had an epithelioid morphology, and 81 cases had skeinoid fibers. The tumors often coexpressed CD34 and KIT (54%) and were variably positive for smooth muscle actin (39%) and S-100 protein (20%) but never for desmin. A total of 86% of patients with tumors >5 cm with >5 mitoses/50 high power fields (HPF) (n = 21) died of disease, whereas no tumor <2 cm with <5 mitoses/50 HPF (n = 12) recurred or caused death. Long latency was common between primary operation and recurrences or metastases; either one occurred in 49 of 140 patients with follow-up (35%). No formula could accurately predict metastases, which occasionally developed even if mitotic activity was <5/50 HPF and size <5 cm. Metastases were in the abdominal cavity, liver, and rarely in bones and lungs but never in lymph nodes. Four actin- and desmin-positive and KIT-negative benign intramural LMs were similar to those more often seen in the esophagus. There were five LMSs, one of which formed a polypoid intraluminal mass; all were actin positive and KIT negative. The great majority of duodenal mesenchymal tumors are GISTs, which have a spectrum from small indolent tumors to overt sarcomas. LMs and LMSs are rare.
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PMID:Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum: a clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases. 1271 47

Gastrointestinal stromal tumors (GIST/GIPACT) are the most common mesenchymal tumors of the human gastrointestinal (GI) tract and are characterized by the constant immunohistochemical expression of CD117. In recent years, sporadic and germ line mutations in the c-kit gene have been described in GIST/GIPACT tumors, resulting in a constitutive activation of the gene. The most prevalent mutation is located in exon 11 of the c-kit gene, involved in the transcription of the juxta-membrane domain of the c-kit protein. There are conflicting reports with respect to the association between exon 11 mutations and the biological behavior of GIST/GIPACT tumors. This work studies eight patients with tumors diagnosed as GIST/GIPACT, both morphologically and immunohistochemically for CD117, CD34, a-smooth muscle actin, desmin and S-100 protein primary antibodies. The DNA of the eight cases was also studied by PCR for mutation of exon 11 of the c-kit gene. All cases were CD117 positive, but only two showed mutation of exon 11. These last two cases did not show morphological characteristics of malignancy. The most aggressive case, with early death of the patient, did not show the mutation. In conclusion, there was no correlation between the mutation of exon 11 of the c-kit gene and the malignant behavior of GIST/GIPACT tumors in our series.
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PMID:Characterization of GIST/GIPACT tumors by inmunohistochemistry and exon 11 analysis of c-kit by PCR. 1458 63

GIST is a rare neoplasm, the majority of GISTs are located in the stomach and small intestine. Most GISTs are diagnosed histopathologically after resection because of submucosal location. A 37-year-old female patient presented with a 2-weeks history of generalized weakness, nausea accompanied by intermittent passage of black, tarry stools. Esophagogastroduodenoscopy and ERCP showed a large round mass measuring 5 cm in diameter in the ampulla of Vater with ulcer crack. Endoscopic multiple biopsies from the mass including ulcer base were taken. Light microscopic findings showed spindle-shaped and epitheloid tumor cells having high cellularity and frequent mitotic figures. On immunohistochemical stainings, the tumor cells were positive for CD34 and smooth muscle actin. Based on these preoperative findings, a diagnosis of malignant GIST of the ampulla of Vater was made probably. After operation, immunohistochemical studies revealed positive reaction for c-kit and vimentin, as well as focally reactive for CD34 and smooth muscle actin. We report a case of GIST in the ampulla of Vater presenting with melena that was diagnosed preoperatively and postoperatively.
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PMID:Malignant gastrointestinal stromal tumor of the ampulla of Vater: a case report. 1474 56

GIST anatomical concept, recently elucidate, they are characterized by the expression of the protooncogene C Kit The diagnosis is relatively easy but prognosis evaluation is not usually possible. The treatment is based on the surgical resection. The rewardable clinical response of tumors that express C-Kit to treatment with the tyrosine kinase inhibitor STI 571 is a triumph of molecular pharmacology.
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PMID:[Gastrointestinal stromal tumors. Current data]. 1498 24

Cystic change is uncommon in gastrointestinal stromal tumor, (GISTs). This report describes 1 case in which a GIST presented as a large multilocular cystic mass. Sonography of the abdomen showed a huge cystic lesion with multiple septa in the left upper quadrant of the abdomen, compressing the left lobe of the liver. Esophagogastroscopy showed only a small submucosal tumor at the anterior wall of the mid portion of the gastric body. Endoscopic sonography revealed a hypoechoic mass, measuring 0.9 x 0.7 cm, arising from the fourth layer of the anterior wall of the mid portion of the gastric body. A huge cystic tumor, containing multiple septa and continuous with the small submucosal lesion, was found. Doppler signals were detected within the septa. Laparotomy revealed a huge exophytic cystic tumor arising from the stomach. Immunohistochemical analysis confirmed that the lesion was a GIST by detecting expression of the c-kit and CD34 proteins. GIST that has undergone cystic change must be differentiated from other cystic lesions to guide the treatment approach. Imatinib mesylate is a new therapeutic alternative for patients who have advanced GIST, but surgery remains the therapy of choice for resectable disease.
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PMID:Unusual sonographic appearance of a gastrointestinal stromal tumor presenting as a large multilocular cystic mass. 1510 Oct 81

The gastrointestinal stromal tumor cell line, GIST-T1, has a heterogenic 57-base pair deletion in exon 11 of the c-kit mutation, and the c-KIT protein in the GIST-T1 cells constitutively activated. We report that STI571 (Glivec; Novartis, Basel, Switzerland), a specific inhibitor of c-KIT, inhibits the clustering of c-KIT at the cell membrane of the GIST-T1 cells. Furthermore, STI571 prevents the interaction between c-KIT and the molecular chaperone, heat shock protein 90 (Hsp90). Geldanamycin, an inhibitor of Hsp90, also prevents interaction between c-KIT and Hsp90, and inhibits tyrosine phosphorylation of c-KIT. Our results indicate that c-KIT molecules are assembled on the cell surface of the GIST-T1 cells, and that the interaction between c-KIT and Hsp90 plays an important role in c-KIT activation.
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PMID:STI571 (Glivec) inhibits the interaction between c-KIT and heat shock protein 90 of the gastrointestinal stromal tumor cell line, GIST-T1. 1572 56

Stromal gastrointestinal tumors or GIST are undifferentiated mesenchymal tumors of gastrointestinal tract that showed characteristic c-kit expression. GIST are very rare in children and only 21 cases are reported in literature. The authors present a GIST arising in the stomach of a 7-year-old girl and revealed by severe anaemia. The patient underwent surgical resection and chemotherapy because of high-risk markers. Positive diagnosis and prognosis of paediatric GIST are discussed with literature data.
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PMID:[Stromal gastrointestinal tumors in children: about a case]. 1578 9

The clinicopathologic features of 136 gastrointestinal stromal tumors were analyzed. The tumors occurred in 60 women and 76 men, ranging in age from 19 to 88 years (median 59 years, mean 59.2 years). Sixty-one cases arose from stomach, 38 from small intestine and 11 from colon or rectum. Abdominal cavity was indicated as tumor site in 10 cases, but the extra-gastrointestinal origin using strict criteria was not proved. Four locally recurrent cases and 12 metastatic samples were also included. The primary and recurrent tumors ranged in size from 0.5 to 30 cm (mean 8.3 cm). The large number of high-grade cases (85 of 112 classifiable) is alarming and emphasize the importance of oncology care. Histologically, ninety-two cases were classified as spindle cell while 11 as epithelioid GIST. Mixed cellularity was seen in 33 cases. Skeinoid fibers were present in 14 and coagulation necrosis in 40 primary cases. Ulceration observed by microscopic examination was common (36 of 110 cases, 32.7%), explaining the clinically frequently observed gastrointestinal bleeding. Unusual histological features such as stromal hyalinization and nuclear palisading were present in 30 and 27 cases, respectively. Immunohistochemical CD117 (c-kit) positivity was documented in 133 cases. Three cases with CD117 negative results were included, because their morphology was most consistent with GIST and immunohistochemical reactions excluded the possibility of other neoplasms. CD34 positivity was seen in 70%, alpha-smooth muscle actin positivity in 39.6% of examined cases. Only one case showed desmin reactivity and seven had S100 positive tumor cells. For h-caldesmon 39 cases proved to be positive (60.9% of the tested cases).
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PMID:Gastrointestinal stromal tumors: a clinicopathologic and immunohistochemical study of 136 cases. 1580 Jun 77


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