ArticleThe American journal of pathology2002
The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors.
Article in The American journal of pathology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 120 citations in OpenAlex.
- Neoadjuvant, adjuvant and palliative treatment of gastrointestinal stromal tumours (GIST) with imatinib: a centre-based study of 17 patients.British journal of cancer · 2003Trial
- The Mechanisms for the Association of Cancer and Esophageal Dysmotility Disorders.Medical sciences (Basel, Switzerland) · 2021Review
- Article
- Two different KIT mutations may lead to different responses to imatinib in metastatic gastrointestinal stromal tumor.The Korean journal of internal medicine · 2018Article
- c-Kit expression, angiogenesis, and grading in canine mast cell tumour: a unique model to study c-Kit driven human malignancies.BioMed research international · 2014Article
- Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors.BMC medicine · 2010Article
- [Pathology and molecular biology of gastrointestinal stromal tumors (GIST)].Der Radiologe · 2009Article
- Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009Article
- Dramatic response of a gastrointestinal stromal tumor to neadjuvant imatinib therapy.World journal of surgical oncology · 2009Article
- KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.World journal of gastroenterology · 2008Article
- An update on molecular genetics of gastrointestinal stromal tumours.Journal of clinical pathology · 2006Review
- Differential diagnosis of gastrointestinal leiomyoma versus gastrointestinal stromal tumor.International journal of colorectal disease · 2006Article
- Follow-up of gastro-intestinal stromal tumours (GIST) during treatment with imatinib mesylate by abdominal MRI.European radiology · 2005Article
- Article
- C-kit gene mutation in human gastrointestinal stromal tumors.World journal of gastroenterology · 2004Article
- Targeted mutations of the juxtamembrane tyrosines in the Kit receptor tyrosine kinase selectively affect multiple cell lineages.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Clinical manifestations and prognostic factors in patients with gastrointestinal stromal tumors.World journal of gastroenterology · 2003Article
- Expression and mutation of c-kit gene in gastrointestinal stromal tumors.World journal of gastroenterology · 2003Article
- Recent advances in the management of gastrointestinal stromal tumors.Current oncology reports · 2003Review
- Gastrointestinal stromal tumors (GIST): C-kit mutations, CD117 expression, differential diagnosis and targeted cancer therapy with Imatinib.Pathology oncology research : POR · 2003Review
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6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gastrointestinal stromal (pacemaker cell) tumors (GIST/GIPACTs) are frequently associated with activating KIT mutations, primarily of exon 11 and rarely of exons 9 and 13, as well as certain chromosome rearrangements. Reports regarding the frequency and prognostic significance of KIT mutations are conflicting and few cases have been completely sequenced. Furthermore, there are few detailed analyses of chromosome alterations in GIST/GIPACTs. In a detailed analysis of 14 GIST/GIPACTs from 12 patients, we found a wider spectrum of KIT mutations than previously reported, including 11 different in-frame mutations involving exons 11, 14, and 15. No mutations were detected in four malignant tumors. The shorter (GNNK-) KIT isoform was preferentially expressed. Cytogenetic and spectral karyotype analyses of 10 tumors revealed clonal abnormalities in eight tumors; the most common were terminal 1p deletions and losses of chromosomes 14 and/or 22. Neither KIT mutation status nor chromosome aberrations correlated with tumor phenotype or clinical behavior in our series. Collectively, these findings indicate that the role of KIT mutations and chromosomal rearrangements in the pathogenesis of GIST/GIPACTs are more complex than previously recognized.
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