• Journal of Chest Surgery
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• v.50 no.4
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• pp.308-311
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• 2017

A 71-year-old man was referred for an anterior chest wall mass. Chest computed tomography (CT) and positron emission tomography-CT suggested a malignant tumor. Surgical biopsy through a vertical subxiphoid incision revealed an extra-gastrointestinal stromal tumor (EGIST). En bloc resection of the tumor, including partial resection of the sternum, costal cartilage, pericardium, diaphragm, and peritoneum, was performed. Pathologic evaluation revealed a negative resection margin and confirmed the tumor as an EGIST. On postoperative day 17, the patient was discharged without any complications. At the 2-week follow-up, the patient was doing well and was asymptomatic.

• Journal of Gastric Cancer
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• v.20 no.1
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• pp.29-40
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• 2020

Purpose: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors. In this study, a targeted next-generation sequencing (NGS) assay with an Oncomine Focus Assay (OFA) panel was used for the genetic characterization of molecular targets in 30 Korean patients with GIST. Materials and Methods: Using the OFA that enables rapid and simultaneous detection of hotspots, single nucleotide variants (SNVs), insertion and deletions (Indels), copy number variants (CNVs), and gene fusions across 52 genes relevant to solid tumors, targeted NGS was performed using genomic DNA extracted from formalin-fixed and paraffin-embedded samples of 30 GISTs. Results: Forty-three hotspot/other likely pathogenic variants (33 SNVs, 8 Indels, and 2 amplifications) in 16 genes were identified in 26 of the 30 GISTs. KIT variants were most frequent (44%, 19/43), followed by 6 variants in PIK3CA, 3 in PDGFRA, 2 each in JAK1 and EGFR, and 1 each in AKT1, ALK, CCND1, CTNNB1, FGFR3, FGFR4, GNA11, GNAQ, JAK3, MET, and SMO. Based on the mutation types, majority of the variants carried missense mutations (60%, 26/43), followed by 8 frameshifts, 6 nonsense, 1 stop-loss, and 2 amplifications. Conclusions: Our study confirmed the advantage of using targeted NGS with a cancer gene panel to efficiently identify mutations associated with GISTs. These findings may provide a molecular genetic basis for developing new drugs targeting these gene mutations for GIST therapy.

• Korean Journal of Bronchoesophagology
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• v.9 no.1
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• pp.87-91
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• 2003

Currently gastrointestinal mesenchymal tumors are divided into three major categories: myogenic tumors(leiomyoma, leiomyosarcoma), neurogenic tumors (schwannomas) and neoplasms that belong to neither group, which are known by GIST(gastrointestinal stromal tumors). The stromal tumors are hetrogenous, so that they may show myogenic or neurogenic differentiation or both, or no differentiation at all in some patients. The best defining feature for GIST is their expression of KIT-protein(CD117). Leiomyomas are the most common mesenchymal tumor in esophagus. Esophageal GISTS are very rare in comparision to those of the stomach and intestine. Recently we experieneced one case of the esophageal GIST, so that we describe an esophageal GIST on immunohistochemical analysis. A 70 years old woman complained of dysphagia and nausea for 3 days. FGS showed a huge elevated lesion in lower esophagus 33cm distal to incisor, which was covered with normal mucosa. CT and UGI showed the intramural tumor of lower third of the esophagus. The distal esophagectomy and esophago-gastrostomy were performed. The tumor was located in lower third of esophagus and measured as $6{\times}3.7$cm in size. Immunohistochemically, it showed weakly positive CD117 and diffusely positive S-100. SMA, desmin, NES and chromogranin showed negative immune-reaction. The patient was followed for 15 month after operation. There was no recurrence.

• Korean Journal of Bronchoesophagology
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• v.15 no.1
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• pp.24-27
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• 2009

Background: Benign tumors of the esophagus are rare. They include leiomyomas, gastrointestinal stromal tumors, neurofibromas and lipomas. In this study we present our experience with enucleation of these 13 tumors for 10 years. Material and Method: A retrospective review of patients who underwent enucleation of benign esophageal tumors between 1995 and 2005 was conducted. Symptom, tumor location and size, operative approach and outcomes after surgery were recorded. Result Thirteen patients were identified(leiomyoma: n=12; GIST n=l). Eight patients were men, five patients were women. Most of them were 4rd and 5th decade. The tumors arose in the lower(7 patients) and middle(6 patients) thirds of the esophagus. Eleven patients underwent a thoracotomy; the remainder were resected using VATS. All of patients underwent simple enucleation. There were no complications and recurrences after surgery. Conclusion: We present our experience with enucleation of these 12 leiomyomas and one GIST for 10 years.

• Journal of Gastric Cancer
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• v.15 no.4
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• pp.231-237
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• 2015

Purpose: Various laparoscopic wedge resection (LWR) techniques requiring gastrotomy for gastrointestinal stromal tumors (GISTs) of the stomach have been applied to facilitate tumor resection and preserve the remnant gastric volume. However, there is the possibility of cancer cell dissemination during these procedures. The aim of this study was to assess the oncologic safety of LWR with gastrotomy (LWR-G) compared to LWR without luminal exposure. Materials and Methods: Clinicopathologic and operative results of 193 patients who underwent LWR for gastric GIST were retrospectively analyzed from 2003 to 2013. We stratified the patients into two groups: LWR-G and LWR without gastrotomy (LWR-C). Clinicopathologic features, short-term outcomes, and long-term outcomes were compared. Results: A total of 26 patients underwent LWR-G, and 167 patients underwent LWR-C. The LWR-G group showed significantly more anterior wall-located (n=10, 38.5%), intraluminal (n=20, 76.9%), and ulcerative (n=13, 50.0%) tumors than the LWR-C group (n=33, 19.8%; n=96, 57.5%; n=46, 27.5%, respectively). Postoperative short-term outcomes did not differ between the two groups. When tumor staging was compared, no statistical difference was noted. There was no recurrence in the LWR-G group, while 2 patients in the LWR-C group experienced recurrence. The two recurrences in the LWR-C group were found in the liver and in the remnant stomach at 63 and 12 months after the operation, respectively. No gastric GIST-related death was recorded in any group during the study period. Conclusions: LWR-G for gastric GIST is an oncologically safe procedure even for masses with ulcerations.

• Journal of Yeungnam Medical Science
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• v.23 no.1
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• pp.131-137
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• 2006

Small bowel tumors have been difficult to diagnose because of low incidence and absence of specific symptoms. There are no efficient and accurate tests available for diagnosis. Capsule endoscopy is an efficient diagnostic tool for small bowel disease and obscure gastrointestinal bleeding. We diagnosed two cases of small bowel gastrointestinal stromal tumor (GIST) diagnosed by capsule endoscopy that were treated by surgery. A 68 year old male presented with abdominal pain. The capsule endoscopy showed fungating ulcer mass at the jejunum. A 55 year female presented with melena. The capsule endoscopy showed an intraluminal protruding mass with a superficial ulcer at the jejunum. Two cases were diagnosed with GIST after surgery. We report these two case diagnosed by capsule endoscopy and review the medical literature.

• Journal of Gastric Cancer
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• v.12 no.3
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• pp.173-178
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• 2012

Purpose: To report the initial clinical experience with single-incision laparoscopic gastric wedge resection for submucosal tumors. Materials and Methods: The medical records of 10 patients who underwent single-incision laparoscopic gastric wedge resection between July 2009 and March 2011 were reviewed retrospectively. The demographic data, clinicopathologic and surgical outcomes were assessed. Results: The mean tumor size was 2.5 cm (range, 1.2~5.0 cm), and the tumors were mostly located on the anterior wall (4/10) or along the greater curvature (4/10), of the stomach. Nine of ten procedures were performed successfully, without the use of additional trocars, or conversion to laparotomy. One patient underwent conversion to multiport laparoscopic surgery, to get simultaneous cholecystectomy safely. The mean operating time was 66.5 minutes (range, 24~132 minutes), and the mean postoperative hospital stay was 5 days (range, 4~7 days). No serious perioperative complications were observed. Of the 10 submucosal tumors, the final pathologic report revealed 5 gastrointestinal stromal tumors, 4 schwannomas, and 1 heterotopic pancreas. Conclusions: Single-incision laparoscopic gastric wedge resection for gastric submucosal tumors is feasible and safe, when performed by experienced laparoscopic surgeons. This technique provides favorable cosmetic results, and also short hospital stay and low morbidity, in carefully selected candidates.

• Journal of the Korean Society of Radiology
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• v.83 no.2
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• pp.400-405
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• 2022

Gastrointestinal stromal tumors (GISTs) are not uncommon and often cause gastrointestinal bleeding. GISTs occurring in the small intestine are occasionally difficult to identify by endoscopy and CT. In this case, the patient underwent CT three times before surgery, and the lesion was found to be located in a different area of the abdominal cavity on each CT scan. Moreover, the lesion was missed in the first two CT images because it was difficult to distinguish it from the nearby collapsed small intestine. The lesion was eventually detected through angiography; however, the correct diagnosis and treatment were delayed for 3 years because it was mistaken for a vascular malformation, which is the most common cause of obscure GI bleeding in elderly patients. This report emphasizes the need for interventional radiologists to be updated and vigilant of the angiographic features of GISTs to make an accurate diagnosis and establish a management strategy.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.10
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• pp.4187-4192
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• 2014

Matrix metalloproteinase (MMP)-2 and MMP-9 are important proteases involved in invasion and metastasis of various tumors. Extra-gastrointestinal stromal tumors (EGISTs) are rare neoplasms. This study was performed to assess MMP-2 and MMP-9 expression in EGIST tissue samples for association with clinicopathological data from the patients. Twenty-one surgical EGIST tissue specimens were collected for analysis of MMP-2 and MMP-9 expression using immunohistochemistry. MMP-2 and MMP-9 proteins were expressed in all of the epithelial cell types of EGISTs, whereas they were only expressed in 75% of the spindle cell type, although there was no statistically significant difference (p>0.05). Expression of MMP-2 and MMP-9 proteins was associated with tumor size, mitotic rate, tumor necrosis, and distant metastasis (p<0.05). MMP-2 expression was linked with MMP-9 levels (p<0.05). However, there was no correlation between MMP-9 expression and age, sex, primary site, or cell morphology in any of these 21 EGIST patients (p>0.05). Moreover, expression of MMP-2 and MMP-9 proteins increased with the degree of EGIST risk. This study provided evidence of an association of MMP-2 and MMP-9 expression with advanced EGIST behavior.

• Journal of Gastric Cancer
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• v.4 no.4
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• pp.268-271
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• 2004

Purpose: Most gastrointestinal stromal tumors (GISTs) have gain-of-function mutations of the KIT or the platelet-derived growth factor receptor alpha (PDGFRA) genes, but approximately $10\%$ of the GISTs are wild types for both the KIT and the PDGFRA genes. The purpose of this study was to investigate the possibility that epidermal growth factor receptor (EGFR) gene mutation might be responsible for the pathogenesis of GIST. Materials and Methods: We analyzed the EGFR gene in 60 GISTs for the detection of somatic mutations by using the polymerase chain reaction (PCR), the single strand conformation polymorphism (SSCP), and DNA sequencing in exon 18, 19, and 21 encoding the kinase domain. Results: The SSCP analysis revealed no evidence of EGFR mutations in exon 18, 19, and 21 in GISTs. Conclusion: The data indicate that the EGFR gene may not be mutated in human GIST and suggest that therapies targeting the mutated EGFR gene products might not be useful in the treatment of GISTs.