ArticleWorld journal of gastroenterology2004
C-kit gene mutation in human gastrointestinal stromal tumors.
Article in World journal of gastroenterology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 37 citations in OpenAlex.
- Expression and mutation ofOncology letters · 2016Article
- Primary extragastrointestinal stromal tumor arising in the vaginal wall: Significant clinicopathological characteristics of a rare aggressive soft tissue neoplasm.World journal of clinical cases · 2016Article
- Molecular spectrum of c-KIT and PDGFRA gene mutations in gastro intestinal stromal tumor: determination of frequency, distribution pattern and identification of novel mutations in Indian patients.Medical oncology (Northwood, London, England) · 2015Article
- Low ING4 protein expression detected by paraffin-section immunohistochemistry is associated with poor prognosis in untreated patients with gastrointestinal stromal tumors.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2014Article
- Screening of the c-kit gene missense mutation in invasive ductal carcinoma of breast among north Indian population.Molecular biology reports · 2012Article
- The Frequency of Mutations in Exon 11 of the c-kit Gene in Patients With Leukemia.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2012Article
- Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.Iranian journal of cancer prevention · 2012Article
- Secondary resistance of extra-gastrointestinal stromal tumors to imatinib mesylate: report of a case.Surgery today · 2011Article
- KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.World journal of gastroenterology · 2008Article
- Improved detection of KIT exon 11 duplications in formalin-fixed, paraffin-embedded gastrointestinal stromal tumors.The Journal of molecular diagnostics : JMD · 2007Article
- Differential diagnosis of gastrointestinal leiomyoma versus gastrointestinal stromal tumor.International journal of colorectal disease · 2006Article
- Endoscopic ultrasound-guided fine-needle aspiration biopsy (EUS-FNAB): past, present, and future.Journal of gastroenterology · 2005Review
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Authors and funding
15 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the significance of c-kit gene mutation in gastrointestinal stromal tumors (GIST).
methodsFifty two cases of GIST and 28 cases of other tumors were examined. DNA samples were extracted from paraffin sections and fresh blocks. Exons 11, 9 and 13 of the c-kit gene were amplified by PCR and sequenced.
resultsMutations of exon 11 were found in 14 of 25 malignant GISTs (56%), mutations of exon 11 of the c-kit gene were revealed in 2 of 19 borderline GISTs (10.5%), and no mutation was found in benign tumors. The mutation rate showed significant difference (chi2=14.39, P<0.01) between malignant and benign GISTs. Most of mutations consisted of the in-frame deletion or replication from 3 to 48 bp in heterozygous and homozygous fashions, None of the mutations disrupted the downstream reading frame of the gene. Point mutations and frame deletions were most frequently observed at codons 550-560, but duplications were most concentrated at codons 570-585. No mutations of exons 9 and 13 were revealed in GISTs, Neither c-kit gene expression nor gene mutations were found in 3 leiomyomas, 8 leiomyosarcomas, 2 schwannomas, 2 malignant peripheral nerve sheath tumors, 2 intra-abdominal fibromatoses, 2 malignant fibrous histiocytomas and 9 adenocarcinomas.
conclusionC-kit gene mutations occur preferentially in malignant GISTs and might be a clinically useful adjunct marker in the evaluation of GISTs and can help to differentiate GISTs from other mesenchymal tumors of gastrointestinal tract, such as smooth muscle tumors, schwannomas, etc.
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