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Despite their relative rarity, gastrointestinal stromal tumors (GIST) are the most common type of mesenchymal tumor in the gastrointestinal (GI) tract. Here, we describe a rare case of a 62-year-old hypertensive female presenting with abdominal pain and a palpable mass, initially suspected to be a pancreatic pseudocyst based on radiological findings. Subsequent histopathological (HPE) examination following surgical resection revealed a large cystic lesion originating from the stomach, characterized as a malignant epithelioid GIST. Based on these findings and taking into consideration the symptomatology of the patient, the decision was made to post the patient for an upfront, open surgical exploration without pre-operative biopsy studies. Frozen section facilities were kept on standby considering the differential diagnosis. Since the frozen section revealed a gastric GIST, a decision was made to perform subtotal gastrectomy, followed by gastrojejunostomy (GJ) and jejunojejunostomy (JJ). In addition, the part of the cyst adherent to the left lobe of the liver was dealt with with a non-anatomical wedge resection. Immunohistochemical (IHC) analysis showed positivity for Cluster of Differentiation 117 (CD117) with negativity for Cluster of Differentiation 34 (CD34), Desmin, and Discovered On Gastrointestinal Stromal Tumors 1 (DOG-1). The tumor exhibited aggressive features, including high mitotic activity, i.e., >5/10 high power field (hpf), hemorrhagic areas, and infiltration into the liver parenchyma. The patient then received adjuvant imatinib-based chemotherapy and was maintained on strict follow-up.

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The concept of submucosal space, or rather the "third space", located between the intact mucosal flap and the muscularis propria layer of the gastrointestinal tract, represents a tunnel that the endoscopist could use to perform interventions in the muscularis propria layer or breech it to enter the mediastinum or the peritoneal cavity without full thickness perforation. The tunnel technique can be used both for the removal of mucosal tumours, called endoscopic submucosal tunnel dissection (ESTD), for the removal of subepithelial tumours (SELs), called submucosal tunnelling endoscopic resection (STER), and for the removal of extra-luminal lesions (for example in the mediastinum or in the rectum), called submucosal tunnelling endoscopic resection for extraluminal tumours (STER-ET). Aim of this updated narrative review, is to summarize the evidences that analyses indications, and outcomes of tunnelling techniques for the treatment of above mentioned lesions.

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BACKGROUND: Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. The New Zealand (NZ) population incidence has not previously been documented nor has the potential effect of ethnicity been reviewed. We furthermore wanted to assess the difference between those undergoing a wedge resection versus a more extensive operation which we hypothesised would correlate with recurrence and mortality. METHODS: All patients (n = 103) with a GIST diagnosed and treated at Te Whatu Ora Waitemata (Auckland, New Zealand) between 2012 and 2021 are presented. Patient demographics, method of GIST detection, management approach, index surgery, histological features, use of adjuvant and neoadjuvant imatinib, follow-up, recurrence and mortality rates were analysed. RESULTS: This paper reports the largest NZ GIST cohort to date and estimates an incidence of 17 cases per million per year. Eighty-four patients underwent surgical resection, 58 received a wedge resection and 17 received a more extensive operation. Five-year disease-free survival rates were 100% in the low/very low risk, 90% in the intermediate and 59% in the high risk groups as determined by the modified NIH criteria. Our overall 5-year GIST-specific survival rate was 83%; it was 91% in those who underwent a wedge resection and 60% in the extensive operation group. There is evidence that Maori have higher rates of GIST recurrence compared to non-Maori and are more likely to require an extensive surgical resection.

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BACKGROUND: Hypercalcaemia is a common manifestation of sarcoidosis but is sparingly described in gastrointestinal stromal tumours (GISTs). We describe a case of acute kidney injury and hypercalcemia resulting from simultaneous diagnosis of GIST and sarcoidosis, the presentation of which has not yet been reported. CASE PRESENTATION: A 61-year-old male presented with acute kidney injury and hypercalcemia, with elevated 1,25-dihydroxyvitamin D levels. Investigations demonstrated a large gastric antral mass which was resected and proven to be GIST. Histopathology of incidentally found liver nodules revealed non-necrotising epithelioid granulomas consistent with concomitant sarcoidosis. The hypercalcemia was successfully treated with bisphosphonate therapy, resection of the GIST and a four month course of corticosteroids, which was truncated due to a mycobacterial infection. CONCLUSIONS: Our case report is the first to describe hypercalcemia due to GIST and biopsy-proven sarcoidosis, thereby raising the possibility of a common pathophysiological pathway relating the two entities. We review the literature describing the mechanisms of hypercalcaemia in GIST and the association between GIST and sarcoidosis.

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Gastrointestinal stromal tumor (GIST) represents a rare neoplasm affecting the gastrointestinal (GI) tract and is classified as a common nonepithelial tumor within the GI tract. It originates from the interstitial cells of Cajal, and GIST typically manifests with symptoms such as abdominal pain, weight loss, and gastrointestinal bleeding. This case involves a 33-year-old male who presented with GI bleeding symptoms after eight months of treatment for anemia. Oesophagogastroduodenoscopy (OGDS) revealed a singular ulcerated mass measuring 4x4cm while a computed tomography (CT) scan identified a large fundal exophytic component extending from the gastroesophageal junction to the stomach. Subsequently, the patient underwent a laparotomy and proximal gastrectomy with Roux-en-Y reconstruction, which revealed a 12x10 cm tumor located at the fundus of the stomach. This report aims to underscore the potential for misdiagnosis in the initial presentation of GIST, emphasizing the importance of raising clinical awareness in such cases.

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Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel. Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1. Conclusion: Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.

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A 7-year-old castrated male Golden Retriever weighing 36.8 kg presented to the Veterinary Teaching Hospital with vomiting, anorexia and depression. After blood tests, radiographic, ultrasound and computed tomography examinations, a 7.85 × 5.90 × 8.75 cm mass was identified in the caecum. To visualise the tumour margin and improve the accuracy of tumour resection, intraoperative short-wave infrared imaging using indocyanine green was performed during surgery. An indocyanine green solution was injected intravenously as a bolus of 5 mg/kg 24 h before surgery. Tumour resection was performed with a 0.5 cm margin from the fluorescent-marked tissues. Histopathological examination revealed a diagnosis of a gastrointestinal stromal tumour (GIST) and the absence of neoplastic cells in the surgical margin, indicating a successful surgery. To our knowledge, this is the first case of a GIST resection in a dog using intraoperative short-wave infrared imaging.

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A 74-year-old man who presented with upper abdominal pain was found to have an incidental appendiceal mass on cross-sectional imaging. He underwent a laparoscopic appendicectomy with histopathological examination confirming a completely resected appendiceal gastrointestinal stromal tumour (GIST). Appendiceal GISTs are rare. Therefore, there is limited evidence to guide risk stratification and management with extrapolation of prognosis from data on GISTs at other sites. This paper highlights the rarity of these tumours and presents another case which correlates well with the existing but limited literature. There is a need to maintain a registry of this rare disease entity with the maintenance of longer-term follow-up data.

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Introduction/Purpose: For gastric subepithelial lesions (GSELs) showing a hypoechoic mass (HM) on endoscopic ultrasonography (EUS) imaging, the utility of EUS-guided tissue acquisition using conventional fine-needle aspiration needles (EUS-TA-CFNAN) and the frequency of histological types remain unclear. This study aimed to examine this issue. Methods: This prospective observational study enrolled 291 consecutive patients who underwent EUS-TA-CFNAN for GSELs showing an HM (GSELHM) on EUS imaging. Immunohistochemical analysis was performed for all EUS-TA-CFNAN and surgically resected specimens. The main outcome measures were the technical results of EUS-TA-CFNAN and the frequency of histological types in GSELHM. Results: The endoscopic ultrasound-guided tissue acquisition using conventional fine-needle aspiration needle diagnosis rate for GSELHM was 80.1% (95% confidence interval [CI]: 75.0-84.5, 233/291). It was significantly lower for antrum (P = 0.004) and lesions smaller than 2 cm (P = 0.003). There were no adverse events. The immunohistochemical diagnoses of EUS-TA-CFNAN included 149 cases of gastrointestinal stromal tumour (GIST) (51.2%), 48 cases of leiomyoma (16.5%), 11 cases of schwannoma (3.8%), 8 cases of the ectopic pancreas (2.7%), 5 cases of subepithelial lesion like cancer (1.7%), 12 cases of other lesions (4.1%), and 58 cases of undiagnosable lesions (19.9%). The frequency of malignant or potentially malignant tumour in GSELHM was 55.0% (95% CI: 49.1-60.8, 160/291). Surgery was performed in 149 patients according to the conclusive EUS-TA-CFNAN results, in which the diagnostic accuracy of EUS-TA-CFNAN was 97.3% (95% CI: 94.7-99.9, 145/149). Conclusion: The use of EUS-TA-CFNAN for GSELHMs is safe and accurate. Gastric subepithelial lesions showing a hypoechoic mass have a reasonably high possibility of containing malignant or potentially malignant tumours, including GISTs.

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Gastrointestinal stromal tumours (GISTs) can develop throughout the entire gastrointestinal tract, but these tumours are usually found in the stomach and small intestine. In this case, a rare GIST arising from the anal canal was investigated using high-frequency endoanal ultrasound and external three-dimensional ultrasound with tomographic ultrasound imaging. The endoanal approach revealed the inner structure of the tumour. External ultrasound was used to determine the relationship between the lesion and surrounding tissues. In the limited reports of anal canal GISTs, no other lesions have been correctly diagnosed preoperatively or displayed in detail on imaging. The multilayer structure of the anal sphincter and these lesions can be clearly displayed by a variety of ultrasound imaging methods, which are nonradiative, low-cost and easily accessible. Modern ultrasound has the potential for broad application in anal canal tumour diagnosis and surveillance.

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PURPOSE: This study aims to (1) explore the prevalence of patient-reported financial difficulties among GIST patients, differentiating between those currently undergoing tyrosine kinase inhibitor (TKI) treatment and those who are not; (2) investigate associations between financial difficulties and sociodemographic and clinical characteristics, work, cancer-related concerns, anxiety and depression and (3) study the impact of financial difficulties on health-related quality of life. METHODS: A cross-sectional study was conducted among Dutch GIST patients diagnosed between 2008 and 2018, who were invited to complete a one-time survey between September 2020 and June 2021. Patients completed nine items of the EORTC item bank regarding financial difficulties, seven work-related questions, the Hospital Anxiety and Depression Scale, Cancer Worry Scale and EORTC QLQ-C30. RESULTS: In total, 328 GIST patients participated (response rate 63.0%), of which 110 (33.8%) were on TKI treatment. Patients currently treated with TKIs reported significantly more financial difficulties compared to patients not on TKIs (17.3% vs 8.7%, p = 0.03). The odds of experiencing financial difficulties was 18.9 (95% CI 1.7-214.7, p = 0.02) times higher in patients who were less able to work due to their GIST diagnosis. Patients who experienced financial difficulties had significantly lower global quality of life and functioning, and more frequently reported psychological symptoms as compared to patients who did not report financial difficulties. CONCLUSION: Even in a country where the costs of TKIs and follow-up care are covered by health insurance, financial difficulties can be present in GIST patients, especially in patients on TKI treatment, and may negatively influence the quality of life.

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Although gastrointestinal stromal tumours (GISTs) are encountered all along the gastrointestinal tract, duodenal GISTs are uncommon and account for <5% of the cases. A 45-year-old woman presented chiefly with anaemia and associated symptoms, whom on further evaluation was found to have a non-metastatic GIST in the distal duodenum sparing the pancreas and major vasculature. Patient was undertaken for segmental duodenectomy with the help of advanced bipolar energy device (tumour occupying D3-D4 with 1 cm proximal margin and 15 cm jejunum) preserving the pancreas and ampulla with end-to-end duodenojejunostomy with an uneventful postoperative course and clear margins on histopathology. Thus, the patient underwent a less morbid procedure with satisfactory oncological outcome and early resumption of activity. This highlights the need to conduct more trials to gather high level evidence in favour of conservative resection and its oncological adequacy and impact on overall survival and recurrence.

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Accurate characterisation of gastrointestinal stromal tumours (GIST) is important for prognosis and the choice of targeted therapies. Histologically the diagnosis relies on positive immunostaining of tumours for KIT (CD117) and DOG1. Here we report that GISTs also abundantly express the type 3 Sarco/Endoplasmic Reticulum Calcium ATPase (SERCA3). SERCA enzymes transport calcium ions from the cytosol into the endoplasmic reticulum and play an important role in regulating the intensity and the periodicity of calcium-induced cell activation. GISTs from various localisations, histological and molecular subtypes or risk categories were intensely immunopositive for SERCA3 with the exception of PDGFRA-mutated cases where expression was high or moderate. Strong SERCA3 expression was observed also in normal and hyperplastic interstitial cells of Cajal. Decreased SERCA3 expression in GIST was exceptionally observed in a zonal pattern, where CD117 staining was similarly decreased, reflecting clonal heterogeneity. In contrast to GIST, SERCA3 immunostaining of spindle cell tumours and other gastrointestinal tumours resembling GIST was negative or weak. In conclusion, SERCA3 immunohistochemistry may be useful for the diagnosis of GIST with high confidence, when used as a third marker in parallel with KIT and DOG1. Moreover, SERCA3 immunopositivity may be particularly helpful in cases with negative or weak KIT or DOG1 staining, a situation that may be encountered de novo, or during the spontaneous or therapy-induced clonal evolution of GIST.

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BACKGROUND: There are two main coping styles regarding information seeking under medical threat; monitoring (information-seeking) and blunting (information-avoiding). The aim of this study is to (1) determine factors associated with a monitoring or blunting coping style in gastro-intestinal stromal tumour (GIST) patients and (2) investigate its association with psychological distress, cancer-related concerns, health-related quality of life and satisfaction with healthcare. METHODS: In a cross-sectional study, Dutch GIST patients completed the shortened version of the Threatening Medical Situations Inventory to determine their coping style, the Hospital Anxiety and Depression Scale, Cancer Worry Scale, EORTC QLQ-C30 and part of the EORTC QLQ-INFO25. RESULTS: A total of 307 patients were classified as blunters (n = 175, 57%) or monitors (n = 132, 43%). Coping style was not associated with tumour or treatment variables, but being a female (OR 2.5; 95%CI 1.5-4.1; p= <.001) and higher educated (OR 5.5; 95%CI 2.5-11.9, p= <.001) were associated with higher odds of being a monitor. Monitors scored significantly lower on emotional functioning (mean = 86.8 vs mean = 90.9, p=.044), which is considered a trivial difference, more often experienced severe fear of cancer recurrence or progression (53.0% vs 37.7%, p=.007), and had more concerns about dying from GIST in the future (60.6% vs 47.4%, p=.025). Compared to blunters, monitors were less satisfied with the received healthcare and information, and would have liked to receive more information. CONCLUSION: GIST patients with a monitoring coping style experience a higher emotional burden. Additionally, monitors exhibit a greater need for information. Although this need for information could potentially result in fears and concerns, recognising it may also create an opening for tailored communication and information.

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BACKGROUND: This case report demonstrates the simultaneous development of a gastrointestinal stromal tumour (GIST) with arteriovenous malformations (AVMs) within the jejunal mesentery. A 74-year-old male presented to the department of surgery at our institution with a one-month history of abdominal pain. Contrast-enhanced computed tomography revealed an AVM. During exploratory laparotomy, hyperspectral imaging (HSI) and indocyanine green (ICG) fluorescence were used to evaluate the extent of the tumour and determine the resection margins. Intraoperative imaging confirmed AVM, while histopathological evaluation showed an epithelioid, partially spindle cell GIST. CASE SUMMARY: This is the first case reporting the use of HSI and ICG to image GIST intermingled with an AVM. The resection margins were planned using intraoperative analysis of additional optical data. Image-guided surgery enhances the clinician's knowledge of tissue composition and facilitates tissue differentiation. CONCLUSION: Since image-guided surgery is safe, this procedure should increase in popularity among the next generation of surgeons as it is associated with better postoperative outcomes.

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Background: Determining the risk of malignant behaviour and mutational status of gastrointestinal stromal tumours (GISTs) guide the management decision and allow optimal individualized patient treatment. Objectives: To determine clinicopathological, immunohistochemical (IHC), risk and KIT mutational findings of GISTs in Sudanese patients. Methods: Histological slides were reviewed, IHC for DOG-1 and CD117 performed and hotspot KIT mutations examined. The risk group was assigned using combined risk criteria. Results: 21 of the 36 patients (58.3%) were males (mean age, 54.83 ±12.57; range, 26-71). Abdominal pain and mass were the most frequent symptoms. Mean tumor size (±SD) was 11.6(±5.82) cm. Either CD117, DOG1 or both were positive in all cases. Using risk criteria, 33.3% (n=12) were clinically malignant at presentation, 13.9% (n=5) high risk, 16.7% (n=6) intermediate, 27.8% (n=10) low risk and 2.8% (n=1) very low risk. Sixteen of 23 (70%) tested cases had KIT (14 exon 11 and two exon 9) mutations. Six tumors were wild type. Exon 11 deletions (p.I563-L576 del and p.V559-N566delinsD) significantly correlate with disease recurrence (p-value: 0.028). Conclusions: Sudanese patients with GIST tend to present late. Nearly half of them correspond to the malignant/high-risk category. The frequency of KIT mutations (79.31%) is in line with the literature.

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INTRODUCTION: Recent studies have highlighted the presence of hepatic progenitor cells (HPCs) in metastatic liver carcinomas. We provide further evidence of this phenomenon, presenting a case of a gastrointestinal stromal tumour (GIST) liver metastasis with evidence of intra- and peritumoral HPC. CASE DESCRIPTION: A 64-year-old man presented with a gastric mass diagnosed as a high-risk KIT-mutated GIST. The patient was treated with imatinib, recurring 5 years later with a liver mass. Liver biopsy disclosed a GIST metastasis, hallmarked by a proliferation of ductular structures without cytological atypia intermingled with the tumour cells, with a CK7/CK19/CD56-positive immunophenotype and rare CD44 positivity. The patient underwent liver resection, and the same ductular structures were present in the tumour interior and at its periphery. CONCLUSION: We document for the time the presence of HPC in the form of ductular structures in a GIST liver metastasis, further supporting their role in the liver metastatic niche.

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The mesentery is a broad fan-shaped fold of peritoneum that suspends the loops of small intestine from the posterior abdominal wall. Although primary neoplasms arising in the mesentery are rare, the mesentery is a major avenue for the dissemination of tumours, which can spread through hematogenous, lymphatic, direct or peritoneal seeding. Imaging helps in the diagnosis of these tumours and aids in directing appropriate treatment by assessing their size, extent and relationship with adjacent structures. The aim of this article is to describe the spectrum of imaging findings of the various mesenteric lesions using ultrasound and CT. Contribution: Evaluation of the mesentery is often neglected during routine ultrasound (US) because of inadequate training and unfamiliarity with the common US features encountered with mesenteric disease. CT plays an essential role in the diagnosis of mesenteric disease. Knowledge of imaging characteristics of various mesenteric lesions helps in timely diagnosis and management.

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BACKGROUND: The Controlling Nutritional Status (CONUT) score, regarded as the effective indicator of patient nutrition, has been demonstrated to be related to prognosis of numerous tumours. Nevertheless, the significance of CONUT for gastrointestinal stromal tumour (GIST) remains unclear. This study intended to clarify the association between CONUT and the prognosis of GISTs. METHODS: Three hundred and fifty-five patients with GISTs undergoing surgical resection at our center were retrospectively assessed. Receiver operating characteristic curve analysis was used to help determine the cut-off value of CONUT score. Relapse-free survival (RFS) and overall survival (OS) were assessed by Kaplan-Meier curve analysis. Prognostic factors for RFS and OS were examined by Cox proportional hazards models. RESULTS: A total of 355 patients were enrolled in this study. Areas under the curve (AUC) were 0.638 for CONUT score, and the cut-off value of CONUT was shown to be three. Kaplan-Meier curve analysis showed that high CONUT score was linked to poorer RFS and OS. Univariate and multivariate analyses ultimately revealed that CONUT was a risk factor for RFS and OS, independent of demographics and clinicopathological tumour characteristics. CONCLUSIONS: CONUT score was an effective and novel predictor for prognosis of GIST patients treated with surgery, indicating its potential as a prognostic marker in the overall management.

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