Surgical challenges of simultaneous laparoscopic management of gastrointestinal stromal tumor and adrenocortical nodular hyperplasia in a 39-year-old female patient: a case report.

Adrenocortical nodular hyperplasia and gastrointestinal stromal tumors are rare conditions, and their simultaneous occurrence in a single patient poses diagnostic and therapeutic challenges. Here, we present the case of a 39-year-old female patient who underwent surgical resection for concurrent adrenocortical nodular hyperplasia and GIST on the posterior part of the gastric fundus. The patient presented with symptoms of hyperaldosteronism and malignant hypertension, leading to the discovery of these two distinct tumors. Preoperative evaluation revealed normal laboratory findings and hormone levels, except for hyperaldosteronism and hypertension. The surgical intervention included left suprarenal gland removal and wedge resection of the gastric tumor. The patient experienced a successful outcome without intraoperative complications and remained normotensive during follow-up visits, with sustaining hormonal balance. This case underscores the importance of multidisciplinary collaboration and tailored surgical planning in managing complex neoplastic conditions.

Advancing gastrointestinal stromal tumor management: The role of imagomics features in precision risk assessment.

BACKGROUND: Gastrointestinal stromal tumors (GISTs) vary widely in prognosis, and traditional pathological assessments often lack precision in risk stratification. Advanced imaging techniques, especially magnetic resonance imaging (MRI), offer potential improvements. This study investigates how MRI imagomics can enhance risk assessment and support personalized treatment for GIST patients. AIM: To assess the effectiveness of MRI imagomics in improving GIST risk stratification, addressing the limitations of traditional pathological assessments. METHODS: Analyzed clinical and MRI data from 132 GIST patients, categorizing them by tumor specifics and dividing into risk groups. Employed dimension reduction for optimal imagomics feature selection from diffusion-weighted imaging (DWI), T1-weighted imaging (T1WI), and contrast enhanced T1WI with fat saturation (CE-T1WI) fat suppress (fs) sequences. RESULTS: Age, lesion diameter, and mitotic figures significantly correlated with GIST risk, with DWI sequence features like sphericity and regional entropy showing high predictive accuracy. The combined T1WI and CE-T1WI fs model had the best predictive efficacy. In the test group, the DWI sequence model demonstrated an area under the curve (AUC) value of 0.960 with a sensitivity of 80.0% and a specificity of 100.0%. On the other hand, the combined performance of the T1WI and CE-T1WI fs models in the test group was the most robust, exhibiting an AUC value of 0.834, a sensitivity of 70.4%, and a specificity of 85.2%. CONCLUSION: MRI imagomics, particularly DWI and combined T1WI/CE-T1WI fs models, significantly enhance GIST risk stratification, supporting precise preoperative patient assessment and personalized treatment plans. The clinical implications are profound, enabling more accurate surgical strategy formulation and optimized treatment selection, thereby improving patient outcomes. Future research should focus on multicenter studies to validate these findings, integrate advanced imaging technologies like PET/MRI, and incorporate genetic factors to achieve a more comprehensive risk assessment.

A rare simultaneous coexistence of pancreatic gastrointestinal stromal tumor and esophageal schwannoma: a case report and review of literature.

The concurrent presence of gastrointestinal stromal tumor and schwannoma is extremely rare, and its pathological characteristics remain unclear. This case report reported the diagnostic and treatment process of a patient with a pancreatic GIST coexisting with esophageal schwannoma, who was admitted to West China Hospital (Sichuan, China) in April 2015. The patient did not undergo surgical resection of the tumor but instead received an 8-year regimen of imatinib therapy, during which no tumor progression was observed. However, the patient developed pleural effusion as a result of the localized enlargement of the esophageal schwannoma, which exerted pressure on the right inferior pulmonary vein. This case report provides valuable clinical insights into this distinctive disease presentation.

Giant gastrointestinal stromal tumor resulting in intra-abdominal bleeding after failure of imatinib treatment, case report.

BACKGROUND: Gastrointestinal tumors (GIST) are mesenchymal soft tissue tumors that are commonly found in the stomach and are classified according to their site, size, and degree of mitosis. CASE PRESENTATION: A 40-year-old female patient presented to the emergency department complaining of abdominal pain; she was admitted, underwent multiple investigations, and was diagnosed with GIST; she was discharged and readmitted due to food intolerance; the patient was started on imatinib treatment but had a hemorrhagic shock while on therapy due to massive intraperitoneal hemorrhage that needed a lifesaving operation. DISCUSSION: Intraperitoneal bleeding is rare but should be taken into consideration in treating a patient with GIST, especially when the tumor has a risk for complications as enormous and even when proper treatment with chemotherapy agents such as imatinib is started. So, chemotherapy started for two weeks, but later, the patient developed symptoms and signs of intraabdominal bleeding and was diagnosed radiologically. However, due to patient instability, the decision was made to resection, which was done successfully. She was extubated and showed no signs of bleeding postoperatively. CONCLUSION: This case report sheds light on the rare presentation of a giant gastric GIST and the challenges associated with its management. The patient had a poor response to medical treatment with imatinib, which aimed to reduce the tumor size. Moreover, surgical management can be the best first line of management in giant GIST, as the larger the size of the GIST, the more complications can occur.

Diagnostic ability and adverse events of mucosal incision-assisted biopsy for gastric subepithelial tumors: Systematic review and meta-analysis.

OBJECTIVES: This systematic review and meta-analysis aimed to evaluate the diagnostic ability and examine the efficacy of countermeasures to adverse events of mucosal incision-assisted biopsy (MIAB) for gastric subepithelial tumors (SETs). METHODS: We performed a literature search and identified 533 relevant articles. Eleven articles, including 339 lesions, were ultimately used in the meta-analysis. The primary end-point was the pathological diagnostic rate of MIAB for gastric SETs, and the secondary end-point was the incidence of adverse events. The efficacy of acid secretion inhibitors in preventing postoperative bleeding and that of local injection before incision to prevent perforation were also examined. RESULTS: Nine studies were conducted in Japan and two in South Korea, of which only two were prospective studies. The pooled pathological diagnostic rate of MIAB for gastric SETs was 87.8% (95% confidence interval [CI] 80.2-94.0; I2 = 68.7%). The adverse event rate of the pooled population was 0.2% (95% CI 0-1.4; I2 = 0%). The acid secretion inhibitors significantly reduced postoperative bleeding (odds ratio 0.06, 95% CI 0.01-0.66, P = 0.02). Perforation occurred in 0% and 2.6% of the local and nonlocal injection cohorts, respectively, and the pathological diagnostic rates were 50% and 66.7%, respectively. CONCLUSIONS: MIAB is a reliable technique with a favorable diagnostic rate and few adverse events. Acid secretion inhibitors may effectively prevent postoperative bleeding; however, the efficacy of local injection remains unclear. This technique could be an option for tissue sampling in gastric SETs.

Two different mutational types of familial gastrointestinal stromal tumors: Two case reports.

BACKGROUND: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal (GI) tract, and cases of GISTs tend to be of the disseminated type, with a global incidence of 10 to 15 cases/million each year. The rarer familial GISTs, which often represent a population, differ in screening, diagnosis, and treatment. Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs. However, whether the same genetic family has different phenotypes has not been reported. CASE SUMMARY: We report two cases of rare GISTs in the same family: A male patient with the V561D mutation in exon 12 of the PDGFRA gene, who has been taking the targeted drug imatinib since undergoing surgery, and a female patient diagnosed with wild-type GIST, who has been taking imatinib for 3 years since undergoing surgery. The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy, and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease. CONCLUSION: Different mutation types of familial GISTs in the same family are very rare, thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.

Managing locally advanced GIST complicated by perforation: A case report and comprehensive review.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, frequently characterized by mutations in the KIT or PDGFRA genes. This case report details the complex clinical course of a 71-year-old female with a history of HIV and metastatic GIST presenting with acute abdominal symptoms indicative of perforated viscus. Initial imaging revealed a massive pneumoperitoneum and a large abdominal mass, necessitating immediate surgical intervention. The patient underwent multiple surgeries, including bowel resections and colostomy creation, to address the extensive tumor burden and complications. Postoperatively, she required intensive care management, including mechanical ventilation, vasopressor support, and hemodialysis for acute kidney injury. Pathological examination confirmed metastatic GIST with extensive mesenteric and omental involvement. Immunohistochemical staining was positive for CD117 (c-KIT) and DOG-1. Despite aggressive surgical and supportive measures, the patient's condition highlighted the significant challenges in managing advanced GIST with perforation. This case highlights the importance of a multidisciplinary approach, integrating surgical, medical, and intensive care to optimize outcomes. The prognosis of GIST varies widely, with localized tumors having favorable outcomes following resection, while metastatic cases often face a poorer prognosis despite advances in targeted therapies. This case exemplifies the critical need for personalized treatment plans and ongoing research to improve the management and prognosis of GIST patients.

Outcomes of laparoscopic and endoscopic cooperative surgery for gastric submucosal tumors: A retrospective multicenter study at 21 Japanese institutions.

Aim: We conducted a multicenter study on classical laparoscopic and endoscopic cooperative surgery (LECS) and LECS-related procedures to retrospectively clarify the safety, problems, and mid-term outcomes of these methods after their coverage by the national health insurance. Methods: A total of 201 patients who underwent classical LECS/LECS-related procedures for gastric submucosal tumors (G-SMTs) in 21 institutions affiliated with the Laparoscopy Endoscopy Cooperative Surgery Study Group from April 2014 to March 2016 were included. Data was retrospectively obtained from the patients' charts. Results: The most common surgical procedure was classical LECS (155 patients, 77.1%), non-exposed endoscopic wall inversion surgery (22 patients, 11.4%), a combination of laparoscopic and endoscopic approaches to neoplasia with non-exposure technique (16 patients, 8%), and closed LECS (two patients, 1%). Only six (3%) patients underwent LECS with gastrostomy. The mean operative time and blood loss were 188.4 (70-462) minutes and 23.3 (0-793) g, respectively. Ten (5%) patients developed postoperative complications (Clavien-Dindo classification grade II or higher). Two patients needed reoperation due to postoperative bleeding or anastomotic leakage. All tumors were resected with negative margins. A total of 127 (63.2%) patients underwent follow-up observations for over 36 months, one of whom had a recurrence of peritoneal dissemination and one had poor oral intake. Conclusion: Classical LECS and LECS-related procedures for G-SMTs have favorable short/mid-term outcomes.

Imatinib adherence prediction using machine learning approach in patients with gastrointestinal stromal tumor.

BACKGROUND: Nonadherence to imatinib is common in patients with gastrointestinal stromal tumor (GIST), which is associated with poor prognosis and financial burden. The primary aim of this study was to investigate the adherence rate in patients with GIST and subsequently develop a model based on machine learning (ML) and deep learning (DL) techniques to identify the associated factors and predict the risk of imatinib nonadherence. METHODS: All eligible patients completed four sections of questionnaires. After the data set was preprocessed, statistically significance variables were identified and further processed to modeling. Six ML and four DL algorithms were applied for modeling, including eXtreme gradient boosting, light gradient boosting machine (LGBM), categorical boosting, random forest, support vector machine, artificial neural network, multilayer perceptron, NaiveBayes, TabNet, and Wide&Deep. The optimal ML model was used to identify potential factors for predicting adherence. RESULTS: A total of 397 GIST patients were recruited. Nonadherence was observed in 185 patients (53.4%). LGBM exhibited superior performance, achieving a mean f1_score of 0.65 and standard deviation of 0.12. The predominant indicators for nonadherent prediction of imatinib were cognitive functioning, whether to perform therapeutic drug monitoring (if_TDM), global health status score, social support, and gender. CONCLUSIONS: This study represents the first real-world investigation using ML techniques to predict risk factors associated with imatinib nonadherence in patients with GIST. By highlighting the potential factors and identifying high-risk patients, the multidisciplinary medical team can devise targeted strategies to effectively address the daily challenges of treatment adherence.

Successful modified CLEAN-NET with semicircular seromuscular layer incision for a gastric GIST near the cardia: a case report and video demonstration.

BACKGROUND: The combination of laparoscopic and endoscopic approaches to neoplasia with a non-exposure technique (CLEAN-NET) is a laparoscopic and endoscopic cooperative surgery (LECS). It combines laparoscopic gastric resection and endoscopic techniques for local resection of gastric tumors, such as gastrointestinal stromal tumors (GIST), with minimal surgical margins. A conventional CLEAN-NET surgical procedure is complex, requiring careful techniques to preserve the cardia, particularly in case of nearby lesions. We describe the case of a patient who underwent a modified CLEAN-NET approach with a semi-circular seromuscular layer incision surrounding the base of the tumor, different from a circular shape seromuscular layer in the conventional CLEAN-NET: around the tumor to preserve mucosal continuity, which acts as a barrier to avoid intraoperative tumor dissemination. CASE PRESENTATION: A 43-year-old woman was referred to our hospital because of a gastric submucosal tumor near the cardia, detected on medical examination. The patient was diagnosed with gastric GIST based on the results of endoscopic ultrasound-guided fine-needle aspiration. Modified CLEAN-NET was performed with a semicircular incision of the seromuscular layer on the opposite side of the cardia, making the surgical procedure simple and minimizing partial resection of the gastric wall, including the tumor, while preserving the cardia. The operative time was 147 min, preoperative blood loss volume was 3 mL, and postoperative hospital stay was 9 days. The resected specimen revealed a minimal resection of the gastric wall, including the tumor. The cardia and gastric nerves were preserved, and the postoperative food intake was good. CONCLUSIONS: The modified CLEAN-NET with semicircular seromuscular layer dissection is a simple and reliable surgical procedure for GIST near the cardia.

Feasibility and safety of endoscopic full-thickness resection for submucosal tumors in the upper gastrointestinal tract, including predominantly extraluminal submucosal tumors (with video).

OBJECTIVES: Endoscopic full-thickness resection (EFTR) for submucosal tumors (SMTs) has been technically challenging. This retrospective study aimed to evaluate the feasibility, safety, and efficacy of EFTR for upper gastrointestinal (GI) SMTs, including extraluminal lesions. METHODS: We retrospectively investigated 232 patients with SMTs who underwent EFTR from January 2014 to August 2023. Clinicopathologic characteristics, procedure-related parameters, adverse events (AEs), and follow-up outcomes were assessed in all patients. RESULTS: The en-bloc resection and en-bloc with R0 resection rates were 98.7% and 96.1%, respectively. The average endoscopic tumor size measured 17.2 ± 8.7 mm, ranging from 6 to 50 mm. The resection time and suture time were 49.0 ± 19.4 min and 22.5 ± 11.6 min, respectively. In all, 39 lesions (16.8%) exhibited predominantly extraluminal growth. Gastrointestinal stromal tumors (GISTs) were the predominant pathology, accounting for 78.4% of the cases. Twenty-one patients (9.1%) encountered complications, including pneumothorax (1/232, 0.43%), hydrothorax (1/232, 0.43%), localized peritonitis (3/232, 1.29%), and fever (16/232, 6.9%). Although the incidence of postoperative fever was notably higher in the predominantly extraluminal group (7/39, 17.9%) compared to the predominantly intraluminal group (9/193, 4.7%, P = 0.008), there were no significant differences in outcomes of the EFTR procedure. No instances of recurrence were observed during the mean follow-up period of 3.7 ± 2.3 years. CONCLUSION: EFTR was found to be feasible, safe, and effective for resecting upper GI SMTs, including lesions with predominantly extraluminal growth. Further validation in a prospective study is warranted.

Successful resection of a rectal gastrointestinal stromal tumor using a transperineal approach: a case report.

BACKGROUND: Rectal gastrointestinal stromal tumors (GISTs) complicate surgical approaches because of their anatomical position. We herein report a patient with rectal GIST on the anterior wall of the lower rectum, hat was successfully resected using a transperineal approach. CASE PRESENTATION: This report describes a unique case of a 73-year-old man who was diagnosed with rectal GIST on the anterior wall of the lower rectum. The tumor was located within 3 cm of the anal verge, a location that would require highly invasive surgery. A transperineal approach was planned to preserve the anal function. Under general anesthesia, the patient was placed in a lithotomy position and a Mercedes-Benz incision was made in the perineum. Excision of the tumor was performed. The post-operative course was uneventful, and the patient remained free from recurrence. CONCLUSION: This case highlights the importance of performing minimally invasive and safe surgery. With some surgical refinements, a transperineal approach may be an option for surgical procedures in patients with rectal GIST on the anterior wall of the lower rectum.

The INSIGHT study: a randomized, Phase III study of ripretinib versus sunitinib for advanced gastrointestinal stromal tumor with KIT exon 11 + 17/18 mutations.

Somatic KIT activating mutations drive most gastrointestinal stromal tumors (GISTs). Disease progression eventually develops with first-line imatinib, commonly due to KIT secondary mutations, and different kinase inhibitors have various levels of treatment efficacy dependent on specific acquired resistance mutations. Ripretinib is a broad-spectrum switch-control KIT/PDGFRA tyrosine kinase inhibitor for patients with advanced GIST who received prior treatment with three or more kinase inhibitors, including imatinib. Exploratory baseline circulating tumor DNA analysis from the second-line INTRIGUE trial determined that patients with advanced GIST previously treated with imatinib harboring primary KIT exon 11 mutations and secondary resistance mutations restricted to KIT exons 17/18 had greater clinical benefit with ripretinib versus sunitinib. We describe the rationale and design of INSIGHT (NCT05734105), an ongoing Phase III open-label study of ripretinib versus sunitinib in patients with advanced GIST previously treated with imatinib exclusively harboring KIT exon 11 + 17/18 mutations detected by circulating tumor DNA.Clinical Trial Registration: NCT05734105 (ClinicalTrials.gov).

Gastrointestinal stromal tumor (GIST) is rare, but it is the most common mesenchymal tumor (a type of tumor that develops from cells which give rise to soft tissues) of the gastrointestinal tract. The primary treatment for advanced GIST is medication that targets the abnormal mechanisms in cancer cells in order to block tumor growth and spread. Ripretinib is an inhibitor of a protein known as KIT, which is a member of the tyrosine kinase protein family and is involved in the growth of GIST. In a Phase III clinical trial called INTRIGUE, the effects of ripretinib and another receptor tyrosine kinase inhibitor, sunitinib, were compared in patients with advanced GIST previously treated with the drug imatinib. An exploratory analysis from the INTRIGUE trial that characterized baseline circulating tumor DNA in the blood showed a greater clinical benefit with ripretinib versus sunitinib in patients with gene mutations solely occurring in KIT exon 11 + 17 and/or 18 (exon 11 + 17/18). This article describes the rationale and design for a Phase III clinical trial called INSIGHT that will evaluate the benefit of ripretinib compared with sunitinib in patients with advanced GIST whose tumors have mutations in KIT exon 11 and KIT exon 17 and/or 18. Patients will receive ripretinib or sunitinib in 6-week cycles, and investigators will assess survival without cancer progression as the primary outcome, and overall survival, and response of the tumor to these two drugs as secondary outcomes.

Rectal Gastrointestinal Stromal Tumour: A Report of a Rare Case and Literature Review.

Gastrointestinal stromal tumours (GISTs), are an extremely uncommon form of different types of gastrointestinal (GI) malignant neoplasms. While GISTs are the most prevalent type of mesenchymal tumours in the GI tract, they are mainly located in the stomach. Gastrointestinal stromal tumours in the rectum are rarely observed. Some individuals may exhibit symptoms such as constipation, pain in the rectum, bleeding per rectum, or palpable growth, while others may be discovered incidentally. The prevalence of GISTs has been increasing, potentially as a result of developments in imaging techniques. In the present case report, we describe a 47-year-old male patient who initially complained of pain in the lower abdomen, rectum, and occasional constipation. A contrast-enhanced CT (CECT) scan revealed a well-defined hypodense, enhancing lesion with a small calcified area at its periphery in the rectum. The lesion caused a significant luminal narrowing of the rectum. During colonoscopy, a mass located in the submucosal region was identified on the side of the rectal wall, approximately 1 cm away from the anus. After performing the biopsy, the specimen was subjected to histological examination, which revealed a spindle cell tumour with a mild cellular appearance. This finding was in line with the diagnosis of a GIST located in the rectum. The purpose of the current case report is to highlight the significance of CT, colonoscopy, and biopsy in promptly identifying rare GISTs in the colon and rectum, emphasising the uncommon occurrence of GISTs along with their typical locations and imaging features.

Fourteen-year follow-up results of imatinib therapy in patients with unresectable and metastatic gastrointestinal stromal tumors.

BACKGROUND: Imatinib therapy is the gold standard for the treatment of unresectable and metastatic gastrointestinal stromal tumors (GISTs). However, few studies have reported the long-term outcomes of the treatment. METHODS: Seventy patients who underwent imatinib therapy for unresectable and metastatic GISTs were enrolled between 2001 and 2009, and follow-up data were collected until October 2023. One hundred and sixty-eight months had passed since the final enrollment. The outcome measures were patient survival and the status of GIST and imatinib therapy. The cumulative incidence of disease progression (PD) and the chronological changes in PD hazard rate (HR) were also analyzed. RESULTS: The 5-, 10-, 15-, and 20-year overall survival rates were 64.3%, 30.0%, 16.8%, and 12.2%, respectively. Sixty of the 70 enrolled patients died before the data cutoff date: 47 (78.3%) patients died of GIST progression while the remaining 13 (21.7%) died of diseases other than GISTs. The cumulative incidence of PD logarithmically increased, and PD continued even after 10 years of treatment. PD HR decreased over time to reach the lowest value at 9.6 years after the initiation of treatment (HR 0.00027; 95% CI 0.00007-0.00174) and after that formed a small peak at 13 years (HR 0.00144; 95% CI 0.00043-0.00436). CONCLUSIONS: Imatinib therapy showed high clinical efficacy in terms of long-term survival in GIST patients. However, patients undergoing imatinib therapy were at continuous risk of PD even after the 10-year treatment. Long-term treatment and follow-up beyond 10 years are necessary for unresectable and metastatic GIST patients.

Diagnostic Complexity and Long-Term Management of Gastrointestinal Stromal Tumor Mimicking Ovarian Origin: A Case Report.

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.

Molecular Profiling of KIT/PDGFRA-Mutant and Wild-Type Gastrointestinal Stromal Tumors (GISTs) with Clinicopathological Correlation: An 18-Year Experience at a Tertiary Center in Kuwait.

In gastrointestinal stromal tumors (GISTs), identifying prototypical mutations in the KIT/PDGFRA oncogenes, or in rare alternate genes, is essential for prognostication and predicting response to tyrosine kinase inhibitors. Conversely, wild-type GISTs (WT-GIST), which lack known mutations, have limited treatment options. Data on the mutational landscape of GISTs and their impact on disease progression are very limited in Kuwait. Using a targeted next-generation sequencing panel, we investigated the spectrum and frequency of KIT, PDGFRA, and RAS-pathway-related mutations in 95 out of 200 GISTs diagnosed at Kuwait Cancer Center from 2005 to 2023 and assessed their correlation with clinicopathological parameters. Among the 200 tumors (median age 55 years; 15-91), 54% originated in the stomach, 33% in the small bowel, 7% in the colorectum, 1.5% in the peritoneum, and 4.5% had an unknown primary site. Of the 95 molecularly profiled cases, 88% had a mutation: KIT (61%), PDGFRA (25%), NF1 (2%), and one NTRK1 rearrangement. Ten WT-GISTs were identified (stomach = 6, small bowel = 2, and colorectum = 2). WT-GISTs tended to be smaller (median 4.0 cm; 0.5-8.0) (p = 0.018), with mitosis ≤5/5 mm2, and were of lower risk (p = 0.019). KIT mutations were an adverse indicator of disease progression (p = 0.049), while wild-type status did not significantly impact progression (p = 0.934). The genetic landscape in this cohort mirrors that of global studies, but regional collaborations are needed to correlate outcomes with genetic variants.

Untargeted metabolomics analysis reveals the potential mechanism of imatinib-induced skin rash in patients with gastrointestinal stromal tumor.

Imatinib-induced skin rash poses a significant challenge for patients with gastrointestinal stromal tumor, often resulting in treatment interruption or discontinuation and subsequent treatment failure. However, the underlying mechanism of imatinib-induced skin rashes in gastrointestinal stromal tumor patients remains unclear. A total of 51 patients (27 with rash and 24 without rash) were enrolled in our study. Blood samples were collected concomitantly with the onset of clinical manifestations of rashes, and simultaneously collecting clinical relevant information. The imatinib concentration and untargeted metabolomics were performed by ultra-high-performance liquid chromatography-tandem mass spectrometry. There were no significant differences in age, gender, imatinib concentration and white blood cells count between the rash group and the control group. However, the rash group exhibited a higher eosinophil count (P<0.05) and lower lymphocyte count (P<0.05) compared to the control group. Untargeted metabolomics analysis found that 105 metabolites were significantly differentially abundant. The univariate analysis highlighted erucamide, linoleoylcarnitine, and valine betaine as potential predictive markers (AUC≥0.80). Further enriched pathway analysis revealed primary metabolic pathways, including sphingolipid signaling pathway, sphingolipid metabolism, cysteine and methionine metabolism, biosynthesis of unsaturated fatty acids, arginine and proline metabolism, and biosynthesis of amino acids. These findings suggest that the selected differential metabolites could serve as a foundation for the prediction and management of imatinib-induced skin rash in gastrointestinal stromal tumor patients.

Setting the international research agenda for sarcomas with patients and carers: results of phase II of the Sarcoma Patient Advocacy Global Network (SPAGN) priority setting partnership.

BACKGROUND: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics. METHODS: In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey. RESULTS: In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%). CONCLUSIONS: This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers.