Gastrointestinal Stromal Tumors Research Articles

Jejunal gastrointestinal stromal tumor: a diagnostic challenge.

Gastrointestinal stromal tumors (GIST) are rare mesenchymal tumors of the gastrointestinal tract and a rare cause of gastrointestinal bleeding. These tumors usually affect people over 50 years of age and they exhibit a wide range of clinical manifestations, including asymptomatic patients, nonspecific symptoms, obstruction or bleeding, which may delay diagnosis. Early diagnosis and treatment are crucial because GISTs can be aggressive and metastasize. This case highlights the importance of considering GISTs in the differential diagnosis of obscure gastrointestinal bleeding.

Fear, anxiety and depression in gastrointestinal stromal tumor (GIST) patients in the Netherlands: Data from a cross-sectional multicenter study

BackgroundThis study aims to (1) investigate the prevalence of anxiety, depression and severe fear of cancer recurrence or progression in gastrointestinal stromal tumor (GIST) patients treated in a curative or palliative setting, (2) compare their prevalence with a norm population, (3) identify factors associated with anxiety, depression and severe fear, and (4) study the impact of these psychological symptoms on health-related quality of life (HRQoL). MethodsIn a cross-sectional study, GIST patients completed the Hospital Anxiety and Depression Scale, Cancer Worry Scale, and EORTC QLQ-C30. ResultsOf the 328 patients, 15% reported anxiety, 13% depression, and 43% had severe fear. Anxiety and depression levels were comparable between the norm population and patients in the curative setting, but significantly higher for patients in the palliative setting. Having other psychological symptoms was associated with anxiety, while current TKI treatment and anxiety were associated with depression. Severe fear was associated with age, female sex, palliative treatment setting, anxiety, and GIST-related concerns. ConclusionGIST patients treated in a palliative setting are more prone to experience psychological symptoms, which can significantly impair their HRQoL. These symptoms deserve more attention in clinical practice, in which regular screening can be helpful, and appropriate interventions should be offered.

An Unusual PDGFRA Mutation in Gastrointestinal Stromal Tumor and Its NGS Data Analysis

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract [1]. About 75% of GISTs harbor activating mutations of KIT and About 10% of GISTs harbor PDGFRA activating mutations [2]. PDGFRA is the second most mutated oncogene in GIST and are particularly associated with gastric tumors [3,4]. The introduction of tyrosine kinase inhibitors (TKIs) has revolutionized the treatment of GISTs, with specific efficacy seen in tumors with PDGFRA and KIT mutations. However, different PDGFRA mutations can impact the response to these therapies differently [5,6]. For example, the PDGFRA D842V mutation is resistant to imatinib but may respond to newer drugs like avapritinib. Therefore, it is critically important to identify any specific PDGFRA mutations in tumor molecular testing. Here, we report a case with an unusual PDGFRA mutation with a discussion about its NGS data analysis.

Proventricular and ventricular gastrointestinal stromal tumor (GIST) in a scarlet macaw (Ara chloropterus)

GISTs can be benign or malignant, and they have been reported in a wide variety of species, including humans, non-human primates, dogs, and cats; however, reports of this tumor in birds are rare. These neoplasms are seen in the gastrointestinal tract and are derived from the Cajal Cells responsible for regulating gastrointestinal motility. We report a case of a gastrointestinal stromal tumor in a scarlet macaw (Ara chloropterus) that was referred to necropsy at the Veterinary Hospital of the Federal University of Paraíba (UFPB), Northeastern Brazil. Macroscopically, the proventriculus and ventriculus were dilated, and the walls of both organs were thickened by a firm, ulcerated mass covered by fibrin strands. In the histopathology, the proventriculus presented an expansive, non-encapsulated neoplasm formed by homogeneous spindle cells, with eosinophilic cytoplasm, indistinct borders, mild to moderate pleomorphism, and rare mitotic figures, being suggestive of a leiomyoma. In immunohistochemistry, a positive multifocal immunolabeling for the C-KIT proto-oncogene was observed in the cytoplasm of neoplastic spindle cells, thus compatible with a gastrointestinal stromal tumor (GIST). The occurrence of GISTs in avian species might have been overlooked, and the authors recommend that previously reported gastrointestinal leiomyomas or leiomyosarcomas be tested for this immunomarker to rule out the possibility of GISTs.

Diagnostic yield and utility of boring biopsy for subepithelial lesions of the stomach and esophagus

Herein, we aimed to examine the diagnostic yield and utility of boring biopsy for subepithelial lesions (SEL) of the stomach and esophagus. A total of 52 patients with SELs of the stomach or esophagus underwent boring biopsy. The diagnostic yield of boring biopsy for gastric and esophageal SELs was 50% (21/42) and 80% (8/10), and for SELs with a diameter of less than 10mm, the diagnostic yield was 67% (6/9) and 83% (5/6), respectively. Forty-three percent (9/21) of the gastric SELs were diagnosed with gastrointestinal stromal tumor (GIST), while all esophageal SELs (8/8) were leiomyomas. Ten percent (4/42) of boring biopsies for the stomach were accompanied by complications:two cases of perforation and two of bleeding.

Case of Imatinib Susceptibility to CYP3A4-Mediated Drug-Drug Interactions in a Patient With Gastrointestinal Stromal Tumor.

Case of Imatinib Susceptibility to CYP3A4-Mediated Drug-Drug Interactions in a Patient With Gastrointestinal Stromal Tumor.

Analysis of computerized tomography characteristics in gastrointestinal subepithelial lesions diagnosed through endoscopy or endovascular ultrasound

Aim: Subepithelial lesions (SEL) of the gastrointestinal tract are lesions arising from the mucosa, submucosa or muscularis propria. This study is aimed to asses diagnostic characteristics of SELs on computerized tomography (CT) and to present the localization, size, CT attenuation and contrast enhancement patterns of the lesions that may aid in making correct diagnosis. Materials and Methods: Between December 2022 and March 2024, patients with a preliminary diagnosis of SEL on endoscopy or EUS and who underwent abdominal CT were retrospectively screened from the hospital database. Localization, size, pre-contrast and post-contrast Hounsfield Unit (HU) values of the lesions, and pathologic diagnoses were recorded and compared in patients with SEL. Results: Pathologic diagnosis was available in 25 (23.4%) patients with SEL detected on CT. Among these, the most common lesion was gastrointestinal stromal tumors (GIST, 52%). In 22 (20.6%) patients, the lesion was not detected on CT. The lesions that could not be seen on CT were less than 2 cm in size. Gastrointestinal distension was insufficient in the majority of patients in whom the lesion could not be visualized on CT. While the HU values increased by approximately 3 times in patients diagnosed with neuroendocrine tumors (median [interquartile ranges] 36.5 [32 – 40] vs. 101.5 [81.5 – 127.5]; p = 0.068), the increase was approximately 2 times in those with GIST (30 [29 – 38] vs. 70 [57 – 77]; p=0.003). Conclusion: This study presents several CT characteristics and pitfalls that may aid correct diagnosis of SELs with CT. SELs smaller than 2 cm in size and located in cardia are more likely to be missed with CT. Adequate gastric distention is crucial in correct diagnosis.

Primary gastric rhabdomyosarcoma. A rare cause of an upper gastrointestinal bleeding.

Adenocarcinoma accounts for 90% of malignant gastric tumours. Lymphomas, gastrointestinal stromal tumours (GIST) and other less frequent tumours account for 10%. However, rhabdomyosarcoma (RMS) remains a rare cause within the broad differential diagnosis of gastric lesions. Most cases of gastrointestinal RMS in adults are metastatic disease so primary RMS is extremely rare. A few cases reports of esophageal and gastric RMS have been published. This is a 76-year-old patient with a history of oncological oncology of poorly differentiated lung adenocarcinoma T2N1M0 in 2008 treated with surgery with no signs of recurrence. She presented to emergency with occasional episodes of melena and iron deficiency anemia for the last 3 months. The laboratory findings showed moderated anemia. Gastroscopy was performed and a prominent submucosal and ulcerated bulge was observed at the posterior wall of the gastric body and fundus. A histologic examination reveled tissue fragments composed of small round spindle-shaped cells. Tumor cells had atypical nuclei showing dense chromatin ad pale to eosinophilic cytoplasm. Immunohistochemically, the tumor was positive for AE1/3, desmin, myogenin and CD56. Patient was diagnosed with primary gastric RMS. Thoraco-abdominopelvic CT showed a locally advanced stage (T2 N1M0).

Medical Therapies to Conquer Surgical Diseases: Gallstone Disease May Be the Next Frontier.

Over the past half century, diseases that were predominantly treated surgically have transitioned to less invasive medical therapies. Such diseases that are now effectively treated with medicine are (1) peptic ulcer disease (PUD), (2) coronary artery disease (CAD), and (3) gastrointestinal stromal tumors (GISTs). Likewise, gallstone disease may soon follow this trend. Currently, the gold standard treatment of symptomatic gallstones is laparoscopic cholecystectomies. Though one of the most common surgeries in the United States, certain cases of acute and gangrenous cholecystitis can be some of the most difficult surgeries to perform. Advancements in neutrophil extracellular trap (NET) inhibitor medical therapies will alter gallstone disease management and the mainstream role of surgical interventions. This focus on less invasive therapies will greatly impact the quality of patient care, financial obligations, and even resident training opportunities.

Gastrointestinal stromal tumors: advances in molecular characterization and therapeutic implications

Gastrointestinal stromal tumors: advances in molecular characterization and therapeutic implications

Pelvis metastasis with rectal infiltration in hepatocellular carcinoma - a rare case report

Background: Hepatocellular carcinoma (HCC) is the most prevalent primary hepatic neoplasm, with approximately 50% of cases eventually developing metastasis. HCC metastasis to the pelvis is exceedingly rare due to the significant anatomical distance and intricate metastatic pathways involved. Case Presentation: In this case report, we present a 60-year-old male with HCC metastasis to the pelvis that had infiltrated the rectum. Initially, we suspected the pelvic mass to be a gastrointestinal stromal tumor, but histopathological and immunohistochemical examinations revealed it to be HCC metastasis. The dissemination of the tumor was suspected to have occurred through peritoneal implantation following a radiofrequency ablation (RFA) procedure that the patient had undergone 10 months prior. A resection surgery of the sigmoid colon up to the tumor-free mid-rectum was performed. The patient is currently stable and undergoing routine outpatient care, now in the third-month post-surgery. Conclusion: This case report unveils a rare HCC metastasis to the pelvis with rectal infiltration. We conclude that in HCC patients presenting with obstructive symptoms, suspicion of metastasis to the pelvis should be considered, especially in patients who have undergone an RFA procedure. Limited diagnostic support from computed tomography scans and colonoscopies made establishing a definitive diagnosis before surgery challenging. However, patients can attain a favorable prognosis with effective surgical intervention, underscoring the importance of prompt and effective treatment in such cases.

Emergent approach to small bowel tumors: diagnosis and treatment.

This study presents the diagnosis and treatment of rare small bowel tumors through clinical cases. Patients treated between 2000 and 2023 were included in the study. The clinical records of the patients were analyzed retrospectively. A total of 34 patients were included in the study. Of these patients, 26 (75.5%) were male and eight (23.5%) were female. The mean age of the patients was 62.1 years. The most common symptoms and signs were abdominal pain (76.4%), bloating (38.2%), and nausea and vomiting (17.6%). Diagnostic methods included computed tomography (CT) (82.3%), upper gastrointestinal double balloon enteroscopy (35.2%), and capsule endoscopy (5.8%). Diagnoses included adenocarcinoma in 13 cases, gastrointestinal stromal tumors (GISTs) in 12 cases, and neuroendocrine tumors (NETs) in two cases. Small bowel tumors frequently present with abdominal pain, bloating, and nausea and vomiting. CT and endoscopic procedures are the primary diagnostic tools. Small bowel cancers are often diagnosed late due to subtle clinical findings and the limitations of endoscopic imaging. Targeted screening strategies may be beneficial for certain at-risk and symptomatic patient groups. Early surgical intervention offers significant advantages for diagnosed patients.

Pelvis metastasis with rectal infiltration in hepatocellular carcinoma - a rare case report

Background: Hepatocellular carcinoma (HCC) is the most prevalent primary hepatic neoplasm, with approximately 50% of cases eventually developing metastasis. HCC metastasis to the pelvis is exceedingly rare due to the significant anatomical distance and intricate metastatic pathways involved. Case Presentation: In this case report, we present a 60-year-old male with HCC metastasis to the pelvis that had infiltrated the rectum. Initially, we suspected the pelvic mass to be a gastrointestinal stromal tumor, but histopathological and immunohistochemical examinations revealed it to be HCC metastasis. The dissemination of the tumor was suspected to have occurred through peritoneal implantation following a radiofrequency ablation (RFA) procedure that the patient had undergone 10 months prior. A resection surgery of the sigmoid colon up to the tumor-free mid-rectum was performed. The patient is currently stable and undergoing routine outpatient care, now in the third-month post-surgery. Conclusion: This case report unveils a rare HCC metastasis to the pelvis with rectal infiltration. We conclude that in HCC patients presenting with obstructive symptoms, suspicion of metastasis to the pelvis should be considered, especially in patients who have undergone an RFA procedure. Limited diagnostic support from computed tomography scans and colonoscopies made establishing a definitive diagnosis before surgery challenging. However, patients can attain a favorable prognosis with effective surgical intervention, underscoring the importance of prompt and effective treatment in such cases.

Applications of artificial intelligence in emergency and critical care diagnostics: a systematic review and meta-analysis.

Artificial intelligence has come to be the highlight in almost all fields of science. It uses various models and algorithms to detect patterns and specific findings to diagnose a disease with utmost accuracy. With the increasing need for accurate and precise diagnosis of disease, employing artificial intelligence models and concepts in healthcare setup can be beneficial. The search engines and databases employed in this study are PubMed, ScienceDirect and Medline. Studies published between 1st January 2013 to 1st February 2023 were included in this analysis. The selected articles were screened preliminarily using the Rayyan web tool, after which investigators screened the selected articles individually. The risk of bias for the selected studies was assessed using QUADAS-2 tool specially designed to test bias among studies related to diagnostic test reviews. In this review, 17 studies were included from a total of 12,173 studies. These studies were analysed for their sensitivity, accuracy, positive predictive value, specificity and negative predictive value in diagnosing barrette's neoplasia, cardiac arrest, esophageal adenocarcinoma, sepsis and gastrointestinal stromal tumors. All the studies reported heterogeneity with p-value <0.05 at confidence interval 95%. The existing evidential data suggests that artificial intelligence can be highly helpful in the field of diagnosis providing maximum precision and early detection. This helps to prevent disease progression and also helps to provide treatment at the earliest. Employing artificial intelligence in diagnosis will define the advancement of health care environment and also be beneficial in every aspect concerned with treatment to illnesses.

A case of neurofibromatosis type 1 with cerebral venous sinus thrombosis due to iron deficiency anemia associated with gastrointestinal stromal tumor

A case of neurofibromatosis type 1 with cerebral venous sinus thrombosis due to iron deficiency anemia associated with gastrointestinal stromal tumor

Review of the androgen receptors and gastrointestinal cancer

Gastrointestinal (GI) cancer is the prevalent cause of global cancer deaths, and its effective treatments are lacking. This common malignancy can be identified through hematomas or black stools. It includes the cancers of digestive system, i.e., esophagus, stomach, liver, pancreas and colon. It is surgically removed followed by the conservative management. The incidence of GI cancer in men is 2–3 times higher compared to women. This higher prevalence in men is because of the involvement of sex steroid hormones via androgen receptor. The clinical case studies in men are continuously being conducted, however there are unanswered questions regarding the therapeutics. In this review, future therapeutic strategies of GI cancer and gastrointestinal stromal tumor (GIST) are being encompassed.

Long-term survival outcomes of endoscopic therapy vs. surgical resection in patients with cardia gastrointestinal stromal tumor.

The ideal surgical approach for treating cardia gastrointestinal stromal tumor (GIST) is not clearly established. This study aimed to assess the long-term survival results among patients who received endoscopic therapy (ET) or surgical resection (SR) for cardia GIST. Cardia GIST patients from 2000 to 2019 were selected from the surveillance, epidemiology, and end result (SEER) database. Multiple imputation (MI) was applied to handle missing data, and propensity score matching (PSM) was carried out to mitigate selection bias during comparisons. Demographic and clinical characteristics' effects on overall survival (OS) and cancer-specific survival (CSS) were assessed using Kaplan-Meier analyses and multivariate Cox proportional hazard models. A total of 330 patients with cardia GIST were enrolled, including 47 (14.2%) patients with ET and 283 (85.8%) patients with SR. The 5-year OS and CSS rates in the ET and SR groups were comparable [before PSM, (OS) (76.1% vs. 81.2%, P = 0.722), (CSS) (95.0% vs. 89.3%, P = 0.186); after PSM, (OS) (75.4% vs. 85.4%, P = 0.540), (CSS) (94.9% vs. 92.0%, P = 0.099)]. Moreover, there was no significant difference between ET and SR in terms of long-term OS (hazard ratio [HR] 0.735, 95% confidence interval [CI] 0.422-1.282) and CSS (HR 1.560, 95% CI 0.543-4.481). Our study found no significant disparity in long-term survival outcomes between ET and SR in cardia GIST patients, implying that ET could be a valid surgical strategy for treating cardia GIST.

Long-term survival of a cat with a metastatic gastrointestinal stromal tumor

Case summary An 8-year-old spayed female mixed-breed cat presented with a 2-year history of recurrent vomiting and hyporexia. Physical examination revealed a palpable mass in the mesogastric abdominal region without discomfort upon touch. Abdominal ultrasonography revealed an intramural mass in the small intestine (duodenum) that caused a decrease in the segment lumen. A complete blood count revealed leukocytosis with marked neutrophilia, eosinophilia and mild hypoalbuminemia. Enterectomy was performed with 3 cm margins and end-to-end anastomosis at the duodenal site of the mass. Histology revealed neoplastic elongated spindle cells that were poorly confined, originating within the muscle layers and that had a mitotic index of 2/10 high-power field (hpf) (at 400×), human epidermal growth factor receptor-type 2 (HER-2) supporting the diagnosis of low-grade sarcoma. Immunohistochemical analysis was positive for KIT, confirming a gastrointestinal stromal tumor (GIST) with a Ki67 level of 15%. Furthermore, multikinase profile biomarkers revealed that the neoplastic cells expressed HER-2 (65%), epidermal growth factor receptor-1 (50%), vascular endothelial growth factor receptor 2 (35%), platelet-derived growth factor receptor beta (15%) and c-KIT (15%). Six months after the original surgery, CT revealed presumptive hepatic, splenic and peritoneal metastases. Toceranib phosphate was prescribed at a dose of 2.75 mg/kg and progressive disease was observed at 8 weeks of follow-up. Relevance and novel information To the best of our knowledge, this is the first case report to characterize the proliferation biomarker profile of a feline GIST in veterinary oncology. However, despite KIT expression in this tumor, the target drug did not inhibit tumor proliferation, providing new insights into this rare tumor in the feline species.

Preserved mucosa unroofing facilitated closure of a large gastric defect after endoscopic full-thickness resection.

A 58-year-old woman was found to have a submucosal bulging lesion in the anterior wall of the gastric fundus during a screening esophagogastroscopy. Endosonographic evaluation revealed it to be a 3.1×2.5cm, hypoechoic mass originating from muscularis propria (MP). Endoscopic full-thickness resection (EFR) was attempted. After submucosal injection, a four-fifth circumferential mucosal incision was made around the lesion. Submucosal dissection was performed to unroof the overlying mucosa, which was preserved via the remaining one-fifth circumferential mucosal edge. Thus a mucosal flap was created and turned aside to expose the mass. En bloc resection of the lesion resulted in a 3.5*3.0cm full-thickness defect . The mucosal flap was flipped back and the defect was almost fully covered. Therefore, closure of the defect was accomplished by simply clipping the two edges of the initially incised mucosa. The patient was discharged 2 days later without discomfort. Histopathology confirmed a gastrointestinal stromal tumor (GIST), prognostic group 1.

A new green fluorimetric micelle complexation approach for reduction of the consumed solvent and quantification of avapritinib in biological fluids.

Avapritinib (AVA) is the first medication authorized by the US-FDA in 2020 for the management of gastrointestinal stromal tumours (GISTs) that can't be treated by surgery. Cancer is among the most common causes of death worldwide and is the second most common cause of death after cardiovascular disease. Therefore, a quick, easy, sensitive, and straightforward fluorimetric approach was used to analyse AVA in pharmaceutical materials and blood plasma (pharmacokinetic). The suggested technique relies on 2% sodium dodecyl sulphate (SDS, pH 4) micellar system augmentation of the fluorescence of the tested drug. The technique demonstrated high relative fluorescence intensity (RFI) at 430 nm after excitation at 340 nm. Concentrations ranging from 20.0-400.0 ng mL-1 with a limit of quantitation of 9.47 ng mL-1 were used to obtain luminescence data for the studied medicine. In addition, the quantum yield of the AVA fluorescence was increased with the gradual addition of a surfactant at a concentration above its critical micellar level. This knowledge has been exploited to enhance the effectiveness of a spectrofluorometric technique for the estimation of AVA in human plasma (98.95 ± 1.22%) and uniformity tests with greenness assessments. The conditions for enhanced fluorescence were optimized and fully validated using US-FDA and International Conference on Harmonization (ICH) rules. This innovative strategy was expanded for AVA stability research in human plasma across various circumstances. This approach is an eco-friendly solution compared to traditional testing methods that use hazardous chemicals.