ArticleJapanese journal of cancer research : Gann2000
Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor.
Article in Japanese journal of cancer research : Gann, 2000. 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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25 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumors: a meta-analysis.World journal of surgical oncology · 2014Pooled it
- Rare Gastroesophageal Tumor Subtypes: Clinicopathologic Characteristics, Molecular Alterations, and Therapeutic Implications.Cancers · 2026Review
- Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype.Virchows Archiv : an international journal of pathology · 2026Article
- Pharmacological intervention of Chinese medicine via regulating ferroptosis in gastric cancer.Chinese medicine · 2026Review
- Rare Occurrence of Microsatellite Instability in Gastrointestinal Stromal Tumors.Medicina (Kaunas, Lithuania) · 2021Article
- Genomic landscape of metastatic papillary thyroid carcinoma and novel biomarkers for predicting distant metastasis.Cancer science · 2020Article
- Article
- Lack of microsatellite instability in gastrointestinal stromal tumors.Oncology letters · 2017Article
- Gastrointestinal stromal tumor (GIST) presenting as a groin mass mimicking and incarcerated hernia.International journal of surgery case reports · 2015Article
- Cellular expression profile for interstitial cells of cajal in bladder - a cell often misidentified as myocyte or myofibroblast.PloS one · 2012Article
- Gastrointestinal stromal tumours: origin and molecular oncology.Nature reviews. Cancer · 2011Review
- Microarray analysis identifies versican and CD9 as potent prognostic markers in gastric gastrointestinal stromal tumors.Cancer science · 2011Article
- Gastrointestinal stromal tumors.Virchows Archiv : an international journal of pathology · 2010Review
- Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q.Journal of cancer research and clinical oncology · 2009Article
- Article
- Gastrointestinal stromal tumors: key to diagnosis and choice of therapy.Molecular diagnosis & therapy · 2008Review
- Effect of loss of heterozygosity of the c-kit gene on prognosis after hepatectomy for metastatic liver gastrointestinal stromal tumors.Cancer science · 2007Article
- An update on molecular genetics of gastrointestinal stromal tumours.Journal of clinical pathology · 2006Review
- Immunohistochemical and genetic features of gastric and metastatic liver gastrointestinal stromal tumors: sequential analyses.Cancer science · 2006Article
- Detailed deletion mapping of loss of heterozygosity on 22q13 in sporadic colorectal cancer.World journal of gastroenterology · 2005Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. Since c-kit mutation occurs only in one-third of GIST, there might be other molecular mechanisms. Loss of heterozygosity (LOH), microsatellite instability (MSI) and NF2 gene mutation were investigated in 22 GISTs (9 low-risk and 13 high-risk tumors). LOH and MSI were evaluated using 41 markers on 21 chromosomal arms, and NF2 gene mutation was examined by PCR-SSCP. High frequency of LOH was observed on 14q (9 / 19, 47%), and 22q (17 / 22, 77%). The frequencies were similar in low-risk and high-risk tumors, and were unrelated with gastric or intestinal origin. Two other abnormalities, additional LOH on other chromosomes and MSI at more than two loci, were characteristic of the high-risk tumors (P < 0.05). NF2 gene mutation was identified in two cases showing 22q-LOH (8 bp deletion on the splice donor site of exon 7, and 1 bp insertion at position 432 of exon 4, which resulted in nonsense mutation). There was no significant correlation between these results and c-kit gene mutation, which was observed in 8 of 22 tumors. Suppressor genes on 14q and 22q may be involved, independently of c-kit gene mutation, in the development of GIST. NF2 contributes as a tumor suppressor in a small subset of GIST. These abnormalities are presumably followed by increased genetic instability.
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