Gastrointestinal Stromal Tumors ; genetics ; pathology ; Genotype ; Humans

Gastrointestinal stromal tumors(GISTs)in the stomach,duodenum,and rectum have low occurrence,and the coexistence GISTs in three parts with neurofibromatosis type Ⅰ(NF-Ⅰ)is even rare.This paper reports a case of GISTs with a family history of NF-Ⅰ.There were multiple nodular masses of different sizes on the patient's face,trunk,and limbs.The patient was admitted due to chest tightness for 5 days and black stools for 1 day.Enhanced CT examination of the abdomen suggested multiple space-occupying lesions in the upper abdomen with multiple small nodules under the abdominal wall,and neurofibromatosis and intestinal stromal tumor cannot be excluded.Finally,surgical pathology confirmed that the multiple tumors in the abdominal cavity were GISTs.The case was confirmed as wild-type GISTs by genetic testing,and the patient recovered well nearly one year after the operation.
Gastrointestinal Stromal Tumors/genetics* ; Humans ; Neurofibromatosis 1/genetics*

Nowadays one of the hot research topics in gastrointestinal surgery is gastrointestinal stromal tumor (GIST). However, mechanisms of their formation and development, and the causes of recurrence following R0 resection, have not been fully understood. This article aims to investigate some important issues concerning the neoplastic essences of GIST including the genomics, bionomics, drug resistance and immunotherapy.
Gastrointestinal Stromal Tumors ; drug therapy ; genetics ; pathology ; Humans

PURPOSE: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of the gastrointestinal tract. Recent studies have revealed much of the biological and genetics underpinning GISTs. METHODS: KIT, PDGFRA, NF2 and GPHN mutations were examined by PCR-SSCP and DNA sequencing. Immunohistochemical analyses of CD117, CD34, SMA, S-100 and desmin were performed in 11 GISTs cases, and each tumor classified as being either very low, low, intermediate or high risk. RESULTS: Mutation in exon 11 of KIT was identified in 6 of the 11 GISTs, but mutations in exon 9, 13 and 17 of KIT were not detected. Three cases lacking KIT mutations showed PDGFRA mutations. No NF2 mutations were detected. GPHN gene mutation in exon 1 was identified in one case, which showed a simple point mutation in exon 11 of KIT. In a correlation between the mutation types and risk of aggressive behavior, four tumors involved multiple ( >2 codons) KIT mutations and one showed a point mutation of KIT plus a GPHN mutation were high risk, but one tumor with a point mutation of KIT showed a low risk. Three tumors having a PDGFRA mutation were of intermediate or very low risk. CONCLUSION: Mutations at exon 9, 13 or 17 of KIT and a NF2 mutation are considered rare in sporadic GIST. KIT and PDGFRA mutations appeared to be alternatives. A GPHN mutation occurring with a KIT mutation may be a secondary change in the pathogenesis of GIST, as the KIT mutation is a major event in GIST. KIT mutant GIST may have a poorer prognosis than PDGFRA mutant GIST.
Desmin ; Exons ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genetics ; Point Mutation ; Prognosis ; Sequence Analysis, DNA

Biomarkers, Tumor ; genetics ; Gastrointestinal Stromal Tumors ; diagnosis ; genetics ; Humans ; Succinate Dehydrogenase ; deficiency ; genetics

Gastrointestinal stromal tumors(GIST) are known for their molecular alterations in KIT or PDGFR genes, and have become the paradigm of molecularly targeted therapies for solid tumors. Recent researches of genotype and phenotype demonstrate that molecular subtypes can predict the response to treatment with tyrosine kinase inhibitors and are related with prognosis. Different strategies will be recommended according to different molecular subtypes of GIST in the future for treatment optimization and individualization.
Gastrointestinal Neoplasms ; genetics ; therapy ; Gastrointestinal Stromal Tumors ; genetics ; therapy ; Genotype ; Humans ; Prognosis ; Proto-Oncogene Proteins c-kit

Gastrointestinal Stromal Tumors/pathology* ; Humans ; Proto-Oncogene Proteins c-kit/genetics*

MicroRNAs (miRNAs) play important roles in carcinogenesis, but the global miRNA expression profile in gastric stromal tumor tissues remains unclear. This study was to examine the miRNA expression profile in gastric stromal tumor tissues and explore the function of dysregulated miRNAs by performing gene ontology (GO) and pathway enrichment analysis. Total RNA was extracted and purified from 3 pairs of frozen gastric stromal tumor tissues and the adjacent non-tumor tissues by using mirVana™ miRNA isolation kit. The miRNA expression was analyzed with Affymetrix microarrays (version 4.0) containing 2578 human mature microRNA probes. The dysregulated microRNAs were validated by quantitative RT-PCR in 30 pairs of gastric stromal tumor tissues. The target gene of the dysregulated microRNAs was predicted by miRanda, TargetScan and PicTar. GO and pathway enrichment analysis was conducted to examine the potential function of miR-3178 and miR-193a-5p. The results showed that there were 12 differently expressed microRNAs in gastric stromal tumor tissues, among which 10 miRNAs were down-regulated, and 2 were up-regulated (P<0.05). The validation results by RT-PCR were in accordance with those by microRNA microarry. GO analysis found that the target genes of miR-3178 were involved in 5 GO terms and those of miR-193a-5p in 7 GO terms in level 2. Pathway enrichment analysis suggested that miR-3178 and miR-193a-5p were related to 57 and 122 signaling pathways, respectively. It was concluded that gastric stromal tumor displays a unique miRNA signature. This specific expression may become a new diagnostic and prognostic biomarker for gastric stromal tumor. miR-3178 and miR-193a-5p function as suppressive microRNAs, and they may also become diagnosis and treatment targets for gastric stromal tumor.
Aged ; Female ; Gastrointestinal Stromal Tumors ; genetics ; surgery ; Gene Expression Profiling ; Humans ; Male ; MicroRNAs ; genetics ; Middle Aged ; Stomach Neoplasms ; genetics ; surgery

Adult ; Exons ; Female ; Gastrointestinal Stromal Tumors ; genetics ; metabolism ; pathology ; Gene Deletion ; Humans ; Proto-Oncogene Proteins c-kit ; genetics ; metabolism

Mutation of c-kit and platelet-derived growth factor receptor alpha (PDGFRA) is the most important molecular feature of gastrointestinal stromal tumor (GIST). Mutation detection of these two genes is of great significance when establishing the diagnosis of a kit-negative GIST, or when predicting response to tyrosine kinase inhibitor. Furthermore, more and more researches focus on the feasibility of the mutation status using as a prognostic factor in recent years.
Gastrointestinal Neoplasms ; diagnosis ; drug therapy ; genetics ; Gastrointestinal Stromal Tumors ; diagnosis ; drug therapy ; genetics ; Humans ; Mutation ; Proto-Oncogene Proteins c-kit ; genetics ; Receptor, Platelet-Derived Growth Factor alpha ; genetics