ArticleWorld journal of gastroenterology2008
KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.
Article in World journal of gastroenterology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Clinicopathological significance of c-KIT mutation in gastrointestinal stromal tumors: a systematic review and meta-analysis.Scientific reports · 2015Pooled it
- Review
- Chronic Disseminated Intravascular Coagulation in Patient With Metastatic Gastrointestinal Stromal Tumor: Treating Bleeding With Anticoagulation.Journal of medical cases · 2025Article
- Review
- Molecular Profiling ofCancers · 2024Article
- Identification and in silico analysis of noval alteration Arg420Gly in KIT proto oncogene among acute myeloid leukemia patients.Scientific reports · 2022Article
- Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.Frontiers in cell and developmental biology · 2021Article
- Morphological Correlates of KIT and PDGFRA Genotypes in Gastrointestinal Stromal Tumour.Turk patoloji dergisi · 2020Article
- Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab PatientsAsian Pacific journal of cancer prevention : APJCP · 2018Article
- Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile ofESMO open · 2018Article
- Imatinib rechallenge in patients with advanced gastrointestinal stromal tumors following progression with imatinib, sunitinib and regorafenib.Therapeutic advances in medical oncology · 2018Article
- Tyrosine kinase inhibitor sensitive PDGFRΑ mutations in GIST: Two cases and review of the literature.Oncotarget · 2017Article
- Clinical and pathological characteristics of gastrointestinal stromal tumor (GIST) metastatic to bone.Virchows Archiv : an international journal of pathology · 2017Article
- Imatinib dose escalation versus sunitinib as a second line treatment in KIT exon 11 mutated GIST: a retrospective analysis.Oncotarget · 2016Article
- Pancreatic GIST in a Patient with Limited Stage Small Cell Lung Cancer: A Case Report and Review of Published Cases.Case reports in oncological medicine · 2016Article
- A meta-analysis of prognostic value of KIT mutation status in gastrointestinal stromal tumors.OncoTargets and therapy · 2016Article
- Practical aspects of risk assessment in gastrointestinal stromal tumors.Journal of gastrointestinal cancer · 2014Review
- The MAPK pathway functions as a redundant survival signal that reinforces the PI3K cascade in c-Kit mutant melanoma.Oncogene · 2014Article
- Molecular characterization of an Italian series of sporadic GISTs.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2013Article
- Gastrointestinal stromal tumor: a rare abdominal tumor.Case reports in oncology · 2013Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST).
methodsThirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing.
resultsKIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P < 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P < 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential.
conclusionDetermination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs.
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