Introduction Gastrointestinal stromal tumors (GISTs) are neoplasms originating from the interstitial cells of Cajal, pacemaker cells responsible for intestinal motility. Patients with locally advanced GISTs and those with borderline resections due to the proximity of vital anatomical structures, which could result in unacceptable post-surgical morbidity, require special therapeutic consideration. Imatinib, a tyrosine kinase inhibitor, has demonstrated significant success in the non-surgical management of metastatic GIST, and its favorable impact on overall survival in the adjuvant setting makes it logical to speculate on the benefit it could provide as a neoadjuvant medication in patients with locally advanced disease. Methods Patients aged 18-90 years with a diagnosis of GIST confirmed by immunohistochemistry (CD117 positivity) who were treated at the Oncology Hospital of Centro Médico Nacional Siglo XXI in Mexico City from January 2012 to December 2016 were included in the study. It is a retrospective study with a duration of four years. Clinical data were collected from the medical records, which included sex, age, tumor location, initial resectability, reason for unresectability, initial tumor size, and mitotic rate. In the case of unresectable disease, patients who were evaluated by medical oncology and who had received treatment with 400 mg of imatinib daily were evaluated. Results A total of 312 patients diagnosed with GIST were analyzed. One hundred thirty-one were men (42%) with a mean age of 57 years, and 181 were women (58%) with a mean age of 59 years. The most frequent anatomical location was the stomach (n=185, 59.2%). At the time of diagnosis, 210 patients (67.3%) presented with resectable disease, while n=102 patients (32.7%) had unresectable disease. A total of 102 patients with unresectable disease received therapy with 400 mg of imatinib per day. Sixteen patients (15.7%) presented a reduction in tumor dimensions and underwent surgery. Conclusion The study highlights the importance of complete surgical resection and the potential benefit of neoadjuvant imatinib therapy in converting unresectable to resectable disease. The results suggest that imatinib can be effective in converting unresectable GISTs to resectable ones, allowing for a complete resection to be performed and obtaining an R0 resection in 93.7% of these cases.

The gene protection of telomere 1 (POT1) is involved in telomere maintenance and stability and plays a crucial role in the preservation of genomic stability. POT1 is considered a high-penetrance melanoma susceptibility gene; however, the number of cancer types associated with the pathogenic germline variants of POT1 is gradually increasing, including chronic lymphocytic leukemia (CLL), angiosarcomas, and gliomas, even though many associations are still elusive. Here, we reported a case of a 60-year-old man who showed early-onset multiple neoplasms, including multiple melanomas, gastrointestinal stromal tumor (GIST), and lung adenocarcinoma. Next-generation sequencing (NGS) analyses revealed a germline heterozygous pathogenic variant in the POT1 gene. Notably, GIST and lung adenocarcinoma were not previously reported in association with the POT1 germline variant. Lung cancer susceptibility syndrome is very rare and the actual knowledge is limited to a few genes although major genetic factors are unidentified. Recently, genome-wide association studies (GWAS) have pointed out an association between POT1 variants and lung cancer. This case report highlights the clinical relevance of POT1 alterations, particularly their potential involvement in lung cancer. It also suggests that POT1 testing may be warranted in patients with familial cancer syndrome, particularly those with a history of melanoma and other solid tumors.

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors occurring in the gastrointestinal tract particularly the stomach or small intestine originating from interstitial cells of Cajal. This case report describes a 50-year-old postmenopausal female presenting with a gradually increasing abdominal mass which clinically was thought to be a neoplasm originating in the ovaries. A clinical and imaging diagnosis of primary ovarian malignancy was made but during laparotomy, a mesenteric component to the malignancy as well as bilateral ovarian cysts were seen. The mass was removed with care and histopathological analysis confirmed it to be GIST. Follow-up of the patient was done for three years and there was no sign of any disease in the patient and she had an uncomplicated postoperative period. This case describes the intricacy of GISTs\' diagnosis, the significance of detailed intraoperative analysis, and appropriate postoperative surveillance. Differences and similarities with other similar cases shed light on how such patients present themselves for treatment, thus encouraging differentiated care. Supervisory care is therefore vital in the monitoring of the patient for prolonged periods and to check for any relapse.

Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet-derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55-year-old man with a history of D842V-mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V-mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial.

GISTs are rare, with only around 5,000 cases diagnosed annually in the United States. However, these tumors are the most common mesenchymal neoplasm in the gastrointestinal (GI) tract. 5%-15% of GISTS arise in the colon and rectum. Most GISTs are diagnosed incidentally on imaging, endoscopy, or during a surgical procedure.

Gastrointestinal stromal tumors (GISTs) are neoplasms of neural cells in the gastrointestinal tract; they typically develop in older adults, with less than 10% of cases presenting among patients under the age of 40. This report describes the clinical course and management of a 28-year-old woman with a history of irritable bowel syndrome (IBS) who presented with acute upper abdominal pain. Surgical pathology confirmed a diagnosis of metastatic GIST. The patient underwent imatinib therapy and subsequent surgical tumor debulking. Postoperatively, she presented with acute appendicitis, for which she eventually required appendectomy, and she became pregnant approximately 1 year after the initial diagnosis. This case highlights several treatment challenges that may be encountered in young patients presenting with GIST.

Background: Gastric gastrointestinal stromal tumors (GISTs) represent a subset of gastrointestinal tumors predominantly found in the stomach. Despite their rarity, these tumors carry significant implications for patient health and management. GISTs are potentially malignant tumors with unpredictable progression. They originate from the interstitial cells of Cajal, which are positioned between the intramural neurons and the smooth muscle cells of the digestive tract. These tumors are characterized primarily by mutations in the c-Kit gene, as well as other mutations such as those in the platelet-derived growth factor receptor alpha (PDGFRA) gene. Methods: Our comprehensive search across five databases initially yielded 2976 articles. After eliminating 197 duplicates, we screened the titles and abstracts of 2779 articles, excluding 2692 for not meeting the inclusion criteria. During the full-text screening, 16 more articles were excluded. Ultimately, 71 papers met the inclusion criteria and were included in our analysis. Results: Due to differences in study designs, inclusion criteria for patients, and reported outcomes, a meta-analysis was not conducted. The accurate diagnosis of GIST is established through histopathological examination and immunohistochemistry. Histopathologically, GISTs are classified into three main types: spindle cell, epithelioid, and mixed. The therapeutic management of GIST involves surgery, endoscopic treatment, and chemotherapy. Conclusions: The prognosis for GIST patients depends on various factors, including risk category, disease stage, applied treatments, and recurrence post-treatment. A significant recent advancement comes from artificial intelligence, which can be increasingly involved in both the diagnosis and treatment of this tumor.

Subepithelial gastric tumors are a diagnostic challenge. Endoscopic ultrasound allows differentiation. Lesions originating from the submucosal layer can be resected using endoscopic submucosal dissection (ESD). Surgery or endoscopic full-thickness resection (EFTR) techniques are alternatives. We present a patient with an 11 × 8 mm submucosal tumor in the gastric antrum suggestive of a gastrointestinal stromal tumor, originating from the muscularis propria. Eventually endoscopic resection was performed, combining ESD and EFTR (hybrid ESD-EFTR). Contrary to expectations, histology revealed a gastric schwannoma. This case illustrates an efficient and safe endoscopic hybrid technique for the removal of submucosal gastric lesions.

Background: Gastrointestinal stromal tumors (GISTs) are a rare neoplasm, sometimes mimicking primary ovarian tumors (OTs) and/or metastasizing to the ovaries (M-OT). We performed a systematic literature review (SLR) of OTs and M-OTs, investigating differences in recurrence-free and overall survival. Methods: Our SLR was performed according to PRISMA guidelines, searching in Pubmed, Scopus, and Web of Science databases from inception until 21 April 2024. Results: Overall, 59 OTs (Group 1) and 21 M-OTs (Group 2) were retrieved. The absence of residual disease after surgery was achieved significantly in a higher percentage of patients with Group 1 GISTs (91.5%) compared with Group 2 GISTs (57.1%). Chemotherapy was more frequently administered to Group 2 patients (33% vs. 0%). Recurrence and deaths for disease were significantly more frequent in Group 2 than Group 1 cases (54.5% vs. 6.8%, and 37.5% vs. 9.8%, respectively). Conclusions: GISTs can rarely mimic primary ovarian cancers or even more rarely metastasize to the ovaries. Group 1 GISTs occurred in younger women, were not associated with elevated tumor markers, and had a better prognosis. In contrast, Group 2 GISTs occurred in older women, may exhibit elevated tumor markers, and presented a worse prognosis. However, no significant statistical difference for survival between the two studied groups was detected. Computed tomography scans can define the size of GISTs, which correlate to stage and prognostic risk classes. The gold standard treatment is complete surgical resection, which was achieved in almost all cases of Group 1 GISTs and in half of Group 2. Histopathology and immunohistochemistry are essential for the final diagnosis and guide chemotherapy treatment.

Background Gastrointestinal stromal tumors (GISTs) represent the most common mesenchymal neoplasms of the gastrointestinal tract, arising from the interstitial cells of Cajal. These tumors bridge the nervous system and muscular layers of the gastrointestinal tract, playing a crucial role in the digestive process. The incidence of GISTs demonstrates notable variations across different racial and ethnic groups, underscoring the need for in-depth analysis to understand the interplay of genetic, environmental, and socioeconomic factors behind these disparities. Linear regression analysis is a pivotal statistical tool in such epidemiological studies, offering insights into the temporal dynamics of disease incidence and the impact of public health interventions. Methodology This investigation employed a detailed dataset from 2009 to 2020, documenting GIST incidences across Asian, African American, Hispanic, and White populations. A meticulous preprocessing routine prepared the dataset for analysis, which involved data cleaning, normalization of racial terminologies, and aggregation by year and race. Linear regression models and Pearson correlation coefficients were applied to analyze trends and correlations in GIST incidences across the different racial groups, emphasizing an understanding of temporal patterns and racial disparities in disease incidence. Results The study analyzed GIST cases among four racial groups, revealing a male predominance (53.19%) and an even distribution of cases across racial categories: Whites (27.66%), Hispanics (25.53%), African Americans (24.47%), and Asians (22.34%). Hypertension was the most common comorbidity (32.98%), followed by heart failure (28.72%). The linear regression analysis for Asians showed a decreasing trend in GIST incidences with a slope of -0.576, an R-squared value of 0.717, and a non-significant p-value of 0.153. A significant increasing trend was observed for Whites, with a slope of 0.581, an R-squared value of 0.971, and a p-value of 0.002. African Americans exhibited a moderate positive slope of 0.277 with an R-squared value of 0.470 and a p-value of 0.201, indicating a non-significant increase. Hispanics showed negligible change over time with a slope of -0.095, an R-squared value of 0.009, and a p-value of 0.879, suggesting no significant trend. Conclusions This study examines GIST incidences across racial groups, revealing significant disparities. Whites show an increasing trend (p = 0.002), while Asians display a decreasing trend (p = 0.153), with stable rates in African Americans and Hispanics. Such disparities suggest a complex interplay of genetics, environment, and socioeconomic factors, highlighting the need for targeted research and interventions that address these differences and the systemic inequalities influencing GIST outcomes.