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.

Unusual case report of bifocal gastrointestinal stromal tumor in the first jejunal loop uncovered by severe hemorrhage.

INTRODUCTION AND IMPORTANCE: Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors, constituting 1 % of gastrointestinal tumors. Jejunal GISTs are even rarer. This article describes a unique bifocal jejunal GIST case, revealed by an exceptionally rare instance of massive hemorrhage. CASE PRESENTATION: We present a 60-year-old female admitted for two days of melena. Despite being hemodynamically stable, severe anemia was noted. Initial endoscopy was normal, but further imaging and jejunoscopy revealed two jejunal GISTs. Surgical resection confirmed the diagnosis. Postoperative recovery was uneventful, with no bleeding recurrence after one year. CLINICAL DISCUSSION: Gastrointestinal stromal tumors (GISTs) are rare but the most common mesenchymal neoplasms in the gastrointestinal tract, originating from interstitial cells of Cajal. Jejunal GISTs are particularly rare but can cause severe gastrointestinal bleeding, even if small. Diagnosis is challenging and often confirmed by angio-CT. Upper and lower endoscopies are initial steps in evaluating gastrointestinal bleeding, but jejunal GISTs may not be visible due to limited access. In such cases, jejunoscopy and video capsule endoscopy can be particularly valuable for direct visualization and assessment of the jejunum, as demonstrated in our patient, where jejunoscopy enabled precise diagnosis. Complete surgical resection is the recommended treatment, with CD-117 positivity confirming the diagnosis. CONCLUSION: This case highlights the rare presentation of bifocal jejunal GISTs with severe hemorrhage and emphasizes the need for prompt surgical intervention and awareness of atypical cases.

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.

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.

Gastrointestinal Stromal Tumor (GIST) Masquerading as a Pancreatic Pseudocyst: A Rare Case Report.

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.

Case report: Male genital system, soft tissue and myocardial metastases in a patient with exon 11-mutated GIST of unknown origin.

Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal tumors of the gastrointestinal tract, usually arising in the stomach or in the small bowel. Most GISTs are diagnosed early due to the presence of symptoms (e.g., abdominal discomfort/pain, anemia, etc.); at times, diagnosis could be incidental (e.g., ultrasound or endoscopic examinations performed for other reasons, surgical intervention for a different disease, etc.). Diagnosis occurs when the tumor is already metastatic in 10-20% of cases. The most common metastatic sites are liver, peritoneum, and loco-regional lymph nodes. Here, we present the case of a male patient with an atypical presentation of disease: as a matter of fact, during his oncological history, he developed metastases in unlikely sites, such as penis, scrotum, myocardium, and soft tissues.

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.

Mesenchymal Tumor Management: Integrating Surgical and Non-Surgical Strategies in Different Clinical Scenarios.

Mesenchymal tumors originate from mesenchymal cells and can be either benign or malignant, such as bone, soft tissue, and visceral sarcomas. Surgery is a cornerstone treatment in the management of mesenchymal tumors, often requiring complex procedures performed in high-volume referral centers. However, the COVID-19 pandemic has highlighted this need for alternative non-surgical approaches due to limited access to surgical resources. This review explores the role of non-surgical treatments in different clinical scenarios: for improving surgical outcomes, as a bridge to surgery, as better alternatives to surgery, and for non-curative treatment when surgery is not feasible. We discuss the effectiveness of active surveillance, cryoablation, high-intensity focused ultrasound, and other ablative techniques in managing these tumors. Additionally, we examine the use of tyrosine kinase inhibitors in gastrointestinal stromal tumors and hypofractionated radiotherapy in soft tissue sarcomas. The Sarculator tool is highlighted for its role in stratifying high-risk sarcoma patients and personalizing treatment plans. While surgery remains the mainstay of treatment, integrating advanced non-surgical strategies can enhance therapeutic possibilities and patient care, especially in specific clinical settings with limitations. A multidisciplinary approach in referral centers is vital to determine the optimal treatment course for each patient.

Neoadjuvant Imatinib Therapy for Gastrointestinal Stromal Tumors Associated With Non-islet Cell Tumor Hypoglycemia (NICTH): A Case Report.

Non-islet cell tumor hypoglycemia (NICTH) is a rare paraneoplastic syndrome characterized by insulin-like growth factor-2 (IGF-2) release, often associated with diverse tumor types. Gastrointestinal stromal tumors (GISTs), sarcomatous lesions of the gastrointestinal tract, are rarely associated with NICTH. We present a unique case of a 58-year-old patient diagnosed with a GIST exhibiting recurrent hypoglycemia suggestive of NICTH. Despite normal IGF-2 levels, the IGF-2/IGF-1 ratio supported the NICTH diagnosis, which was confirmed histologically. Imaging revealed a large intraperitoneal mass. Hypoglycemia was managed with high-dose dextrose and hydrocortisone. Treatment with the tyrosine kinase inhibitor, imatinib, was initiated. Surprisingly, imatinib not only reduced the tumor size but also improved hypoglycemia. The study highlights the complexities in managing NICTH and its underlying causes. Current diagnostic limitations, treatment modalities, and unexpected therapeutic responses challenge standard approaches. This emphasizes the need for personalized oncological strategies.

Gastrointestinal Stromal Tumors (GISTs) in Pediatric Patients: A Case Report and Literature Review.

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that primarily affect adults, with pediatric cases constituting only 0.5-2.7% of the total. Pediatric GISTs present unique clinical, genetic, and pathological features that distinguish them from adult cases. This literature review aims to elucidate these differences, emphasizing diagnostic and therapeutic challenges. We discuss the resistance of pediatric GISTs to conventional chemotherapy and highlight the importance of surgical intervention, especially in emergency situations involving intra-abdominal bleeding. The review also explores the molecular characteristics of pediatric GISTs, including rare mutations such as quadruple-negative wild-type GIST with an FGF3 gene gain mutation. To illustrate these points, we conclude with a case from our clinic involving a 15-year-old female with multiple CD117-positive gastric GISTs and a quadruple-negative wild-type genetic profile who required urgent surgical intervention following a failed tumor embolization. This case underscores the critical need for early diagnosis and individualized therapeutic strategies combining oncologic and surgical care to improve outcomes in pediatric GIST patients.

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.

Immune priming and induction of tertiary lymphoid structures in a cord-blood humanized mouse model of gastrointestinal stromal tumor.

Gastrointestinal stromal tumors (GISTs) harbor diverse immune cell populations but so far immunotherapy in patients has been disappointing. Here, we established cord blood humanized mouse models of localized and disseminated GIST to explore the remodeling of the tumor environment for improved immunotherapy. Specifically, we assessed the ability of a cancer vascular targeting peptide (VTP) to bind to mouse and patient GIST angiogenic blood vessels and deliver the TNF superfamily member LIGHT (TNFS14) into tumors. LIGHT-VTP treatment of GIST in humanized mice improved vascular function and tumor oxygenation, which correlated with an overall increase in intratumoral human effector T cells. Concomitant with LIGHT-mediated vascular remodeling, we observed intratumoral high endothelial venules (HEVs) and tertiary lymphoid structures (TLS), which resemble spontaneous TLS found in GIST patients. Thus, by overcoming the limitations of immunodeficient xenograft models, we demonstrate the therapeutic feasibility of vascular targeting and immune priming in human GIST. Since TLS positively correlate with patient prognosis and improved response to immune checkpoint inhibition, vascular LIGHT targeting in GIST is a highly translatable approach to improve immunotherapeutic outcomes.

Gastrointestinal Stromal Tumor (GIST) in a Young Adult: A Rare Presentation and a Multidisciplinary Approach.

A gastrointestinal stromal tumor is a rare gastrointestinal tumor of mesenchymal origin. We present a rare case of a 32-year-old male patient with a history of iron deficiency anemia who presented with nocturnal cramping abdominal pain, nausea, non-bloody vomiting, loss of appetite, and weight loss. The patient had no significant family history of cancer. Prior imaging showed gastric distension with chronic inflammatory changes, but a scheduled esophagogastroduodenoscopy (EGD) was not done due to loss of follow-up. On admission, the patient was tachycardic with anemia. An abdominal CT scan showed new areas of gastric wall thickening with edematous wall thickening at the gastric cardia. An EGD revealed deep gastric ulcers with elevated edges with central necrosis, raising concerns for malignancy. A biopsy of the gastric cardia confirmed a high-grade stromal tumor with the aid of a DOG1 test; the gastric cardia was KIT-positive in immunohistochemical testing but negative for Helicobacter pylori. The tumor was staged at pT3N0. He was treated with surgical resection with negative margins and imatinib therapy. Postoperative surveillance showed no evidence of malignancy and the patient experienced a positive response to treatment with stable hemoglobin levels and significant weight gain.

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.

Endoscopic removal of gastrointestinal lesions by using third space endoscopy techniques.

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.

A rare case of gastric schwannoma mimicking GIST: diagnostic and therapeutic approach.

Gastric schwannomas are rare, benign neurogenic tumors originating from Schwann cells within the gastrointestinal tract, comprising only 0.2% of all gastric tumors. This report presents the case of a 32-year-old female patient who experienced severe periumbilical pain, nausea, and vomiting, ultimately diagnosed with gastric schwannoma. Initial imaging and endoscopic evaluations suggested a gastrointestinal stromal tumor (GIST), but postoperative histopathological analysis confirmed schwannoma, showing S-100 positivity and negativity for CD117, DOG-1, SMA, Desmin, and CD34. The patient underwent successful central gastrectomy with negative surgical margins and no metastasis. Despite a postoperative complication of small bowel obstruction, which was managed conservatively, the patient remained symptom-free with no recurrence over the follow-up period. This case underscores the importance of differential diagnosis, distinguishing schwannomas from GISTs and other submucosal lesions through thorough histopathological and immunohistochemical analyses, and highlights the efficacy of complete surgical resection in preventing recurrence.

Traction-Assisted Endoscopic Submucosal Dissection of a Gastric Subepithelial Tumor: A Case Report.

Endoscopic submucosal dissection (ESD) is considered curative for patients with early gastrointestinal cancers. However, it is a technically challenging procedure that can be time-consuming and associated with complications such as bleeding and perforation. Traction devices and techniques have been developed to mitigate these risks and reduce procedure times. Most traction devices are unavailable in New Zealand, and traction techniques have not been widely utilized due to the precision required for successful outcomes. We report the first case of traction-assisted ESD performed in New Zealand for a gastric submucosal tumor. The procedure was successfully performed using the clip with rubber band traction technique. The lesion was resected en bloc, and histology confirmed an R0, curative resection. There were no complications, and the total procedure time was 54 minutes. In conclusion, traction techniques can be effectively employed for ESD in lesions with difficult submucosal access. They contribute to safer dissections and reduced procedure times.

Recurrence of fusocellular subtype GIST with SDHB mutation: A case of SDHB-loss and therapeutic challenges.

Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)-loss posing significant diagnostic and therapeutic challenges. A 62-year-old man with weight loss and abdominal pain was diagnosed with a gastric GIST showing SDHB-loss. Initial treatment with Imatinib reduced the tumor size, but surgery revealed no residual tumor. Despite adjuvant Imatinib, recurrence occurred, necessitating further surgical intervention. While GISTs typically benefit from surgery and tyrosine kinase inhibitors (TKIs), those with SDHB-loss are resistant to TKIs, requiring a different management approach. This case emphasizes the importance of surgical intervention for SDHB-deficient GISTs and the need for ongoing research into effective treatments for this subtype.