GIST AND (c-KIT OR KIT OR CD117)

Occurrence of extraskeletal Ewing sarcoma (ES) in the gastrointestinal (GI) tract is extremely rare. Here, we report 25 cases of ES arising primarily in the GI tract with a focus on the clinicopathological and molecular features, differential diagnosis, and biological behavior. Thirteen patients (52%) were male, and 12 (48%) were female with age ranging from 9 to 59 years (mean: 36.2 years; median: 38 years). Twenty-one tumors (84%) occurred in the small intestine, 3 (12%) in the stomach, and 1 (4%) in the anal canal...

PURPOSE: The efficacy of the selective KIT/PDGFRA inhibitor avapritinib (300 mg once daily) was explored in patients with non-PDGFRA-mutant gastrointestinal stromal tumors (GISTs) from the phase I NAVIGATOR and phase I/II CS3007-001 trials. PATIENTS AND METHODS: Adults with unresectable/metastatic, KIT-only-mutant GISTs and progression following ≥1 tyrosine kinase inhibitors (TKIs) were included in this post hoc analysis. Baseline mutational status was identified in tumor and plasma...

Background and aim Gastrointestinal stromal tumors (GISTs) account for a major portion of gastrointestinal mesenchymal tumors. The purpose of the current study is to examine the clinicopathological features, management, and therapeutic outcomes of primary GIST in a tertiary care hospital.  Materials and methods This is a prospective observational analysis. Seventeen patients with GIST have been detected and treated in the Department of Surgery of a tertiary care hospital with an attached medical institution over the last seven years...

In this report, we present a case study of a 64-year-old female who was diagnosed with gastrointestinal stromal tumors (GISTs) and subsequently developed liver metastases despite undergoing radical resection. Next-generation sequencing (NGS) assays indicated that the tumor lacked KIT/PDGFRA/SDH/RAS-P ( RAS pathways, RAS-P ) mutations, thereby classifying this patient as quadruple WT GIST (qGIST). Treatment with imatinib was initiated, and after 2.5 months, recurrence of the tumor and multiple metastases around the surgical site were observed...

Rare gastrointestinal stromal tumors (GISTs) are caused by mutations in the KIT and PDGFRA genes. Avapritinib (BLU-285) is a targeted selective inhibitor for mutated KIT and PDGFRA receptors that can be used to treat these tumors. However, there are subtypes of GISTs that exhibit resistance against BLU-285 and thus require other treatment strategies. This can be addressed by employing a drug delivery system that transports a combination of drugs with distinct cell targets. In this work, we present the synthesis of esterase-responsive polyglycerol-based nanogels (NGs) to overcome drug resistance in rare GISTs...

We showed previously that inhibition of KIT signaling in GISTs activates FGFR-signaling pathway rendering cancer cells resistant to receptor tyrosine kinase inhibitor (RTKi) imatinib mesylate (IM) (Gleevec) despite of absence of secondary KIT mutations and thereby illustrating a rationale for the combined (e.g., KIT- and FGFR-targeted) therapies. We show here that long-term culture of IM-resistant GISTs (GIST-R1) with IM substantially down-regulates KIT expression and induces activation of the FGFR-signaling cascade, evidenced by increased expression of total and phosphorylated forms of FGFR1 and 2, FGF-2, and FRS-2, the well-known adaptor protein of the FGF-signaling cascade...

A 69-year-old man underwent 78 Gy/39 Fr of intensity-modulated radiation therapy for prostate cancer. Seven years after radiotherapy, a nonpapillary bladder tumor was identified. Transurethral resection of the bladder tumor was performed, and the pathological diagnosis was spindle cell sarcoma. Immunostaining revealed KIT- , DOG1++ , CD34- , Actin++ , Cytokeratin- , Desmin- , S100 protein- , and Vimentin++ . No tumor recurrence was observed until 17 months after tumor resection. DOG1 is strongly and specifically expressed in gastrointestinal stromal tumors...

Gastrointestinal stromal tumors (GISTs) are defined as CD117-positive primary, spindled or epithelioid, mesenchymal tumors of the gastrointestinal tract, omentum, or mesentery. While computed tomography (CT) is the recommended imaging modality for GISTs, overlap in imaging features between GISTs and other gastrointestinal tumors often make radiological diagnosis and subsequent selection of the optimal therapeutic approach challenging. Cinematic rendering is a novel CT post-processing technique that generates highly photorealistic anatomic images based on a unique lighting model...

AIM: A bridging study of INTRIGUE study to assess the efficacy and safety of ripretinib versus sunitinib as second-line treatment in Chinese GIST patients. METHODS: This was a phase 2, multicenter, randomized, open-label study in China. GIST patients previously treated with imatinib were randomized (1:1) to receive ripretinib 150 mg once daily (QD) by continuous dosing in 42-day cycles or sunitinib 50 mg QD in 42-day cycles (four weeks on/two weeks off)...

INTRODUCTION: Gastrointestinal stromal tumours (GISTs) are neoplastic lesions that primarily affect the digestive tract and develop from interstitial cells of Cajal. Due to their malignant potential and personalized treatment, these lesions require histopathologic and immunohistochemical characterization. In this investigation, the sex, age, lesional sites of origin, histopathologic types, the prevalence of HER-2 expression, prognostic indices (based on tumour size and mitotic figures), expression of CD117 and DOG1, and characteristics of patients with GIST were all characterized...

BACKGROUND: To evaluate the clinicopathological features and prognosis of gastric cancer (GC) occurring synchronously with gastrointestinal stromal tumor (GIST). CASE SUMMARY: We report 19 patients with concurrent GC and GIST (17 male and 2 female, median age 62 years). GC was most often located in the lower third of the stomach. GIST was diagnosed preoperatively in four patients. GIST was most often located in the gastric body ( n = 8, 42%). The most common growth pattern in GIST was extraluminal ( n = 12, 63%)...

IMPORTANCE: Gastrointestinal stromal tumor (GIST) follow-up is recommended by international guidelines, but data on the role of follow-up in patients with low relapse risk are missing. For these patients, the potential benefit of anticipating recurrence detection should be weighed against psychological burden and radiologic examination loads in terms of costs and radiation exposure. OBJECTIVE: To evaluate the outcomes of guideline-based follow-up in low-risk GIST...

Subepithelial lesions (SELs) originating from muscularis mucosae of the colon are very rare findings on endoscopy. Appropriate management of SELs involves making a correct diagnosis and estimating their malignant potential. In this case study, a 58-year-old Saudi man presented with a small, 8-mm sigmoid polyp during screening colonoscopy. The polyp was removed by hot snare polypectomy and sent to pathology laboratory. Report showed an unremarkable colonic mucosa and underlying well-circumscribed submucosal lesion composed of monotonous spindle cells...

γδ T cells are a rare but potent subset of T cells with pleiotropic functions. They commonly reside within tumors but the response of γδ T cells to tyrosine kinase inhibition is unknown. To address this, we studied a genetically engineered mouse model of gastrointestinal stromal tumor (GIST) driven by oncogenic Kit signaling that responds to the Kit inhibitor imatinib. At baseline, γδ T cells were antitumoral, as blockade of either γδ T-cell receptor or IL17A increased tumor weight and decreased antitumor immunity...

Diagnostic classification of soft tissue tumors is based on histology, immunohistochemistry, genetic findings, and radiologic and clinical correlations. Recently, a sarcoma DNA methylation classifier was developed, covering 62 soft tissue and bone tumor entities. The classifier is based on large-scale analysis of methylation sites across the genome. It includes DNA copy number analysis and determines O 6 methylguanine DNA methyl-transferase methylation status. In this study, we evaluated 619 well-studied soft tissue and bone tumors with the sarcoma classifier...

BACKGROUND: An Inflammatory myofibroblastic tumor (IMT) is a rare intermediate malignancy characterized by myofibroblast proliferation and inflammatory cell infiltration. Various organs are the primary sites of origin. However, primary tumors originating in the stomach tend to be extremely rare, making the diagnosis difficult. Herein, we present a case of IMT originating in the stomach that was effectively managed using inverted laparoscopic endoscopic cooperative surgery (LECS). CASE PRESENTATION: A 47-year-old male who was admitted to the hospital because of a submucosal tumor that was discovered during upper gastrointestinal endoscopy...

OBJECTIVE: This aim of this study was to investigate the prognostic significance of KIT exon 11 mutation subtypes in patients with GISTs. METHODS: A total of 233 consecutive patients diagnosed with GISTs at the First Affiliated Hospital of Zhengzhou University from January 2013 to August 2018 were included in this study. The prevalence and mutation landscape of exon 11 in KIT was presented. The clinicopathological characteristics and prognosis among the different mutation subtypes were analyzed...

PURPOSE: Most gastrointestinal stromal tumors (GISTs) express constitutively activated mutant isoforms of KIT or kinase platelet-derived growth factor receptor alpha (PDGFRA) that are potential therapeutic targets for imatinib mesylate. The relationship between mutations in these kinases and clinical response to imatinib was examined in a group of patients with advanced GIST. PATIENTS AND METHODS: GISTs from 127 patients enrolled onto a phase II clinical study of imatinib were examined for mutations of KIT or PDGFRA ...

BACKGROUND: KIT exon 11 mutation in gastrointestinal stromal tumors (GISTs) is associated with treatment strategies. However, few studies have shown the role of imaging-based texture analysis in KIT exon 11 mutation in GISTs. In this study, we aimed to show the association between computed tomography (CT)-based texture features and KIT exon 11 mutation. METHODS: Ninety-five GISTs confirmed by surgery and identified with mutational genotype of KIT were included in this study...

BACKGROUND: Familial gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the digestive tract caused by germline gain-of-function mutations in the KIT gene or platelet-derived growth factor receptor alpha gene (PDGFRA). These mutations cause not only multiple GISTs but also diffuse hyperplasia of interstitial cells of Cajal (ICCs), which is related to esophageal motility disorder. CASE PRESENTATION: A 53-year-old man was referred to our hospital because of anemia and dysphagia...