Spontaneous haemoperitoneum caused by a bleeding gastric gastrointestinal stromal tumour.

Spontaneous haemoperitoneum is described as a collection of blood in the peritoneal cavity due to non-traumatic aetiology. Common causes in the literature include splenic, hepatic and gynaecological pathology. Patients with spontaneous haemoperitoneum usually present with non-specific dull aching abdominal pain. Spontaneous haemoperitoneum can only be radiologically diagnosed and, if not treated in time, is life threatening. Rupture of a gastrointestinal stromal tumour (GIST) presenting as a spontaneous haemoperitoneum is a rare event. Gastric GIST presents as ambiguous abdominal pain, complications of which include melena, obstruction and rupture. This is a report of a male patient in his early 60s who presented with acute abdominal pain. A contrast-enhanced CT of the abdomen showed haemoperitoneum with an unknown source of origin. Diagnostic laparoscopy showed a bleeding exophytic mass arising from the stomach, which was resected. Thus, early diagnosis with proper imaging and prompt treatment has a favourable outcome.

Endoscopic Characteristics of Small-Bowel Gastrointestinal Stromal Tumors Detected During Single-Balloon Enteroscopy: A Retrospective Analysis.

BACKGROUND/AIMS:  The endoscopic features of small-bowel gastrointestinal stromal tumors (GISTs) are not well defined. The objective of this study was to describe the endoscopic features of GISTs of the small intestine detected via single-balloon enteroscopy (SBE). MATERIALS AND METHODS:  Patients with surgically confirmed small intestinal GISTs from January 2014 to September 2022 were retrospectively analyzed. The hospital's electronic medical record system was used to retrieve the patients' data, including their demographics, clinical symptoms, hemoglobin on admission, endoscopic and computerized tomography findings, clinicopathological findings, and surgical management data. RESULTS:  In total, 46 GIST patients (23 men and 23 women) with overt bleeding were included, with a mean age of 52 years (23-80 years). The typical duration of the symptoms was 48 hours. Four patients (8.70%) had lesions in the duodenum, 32 (69.56%) had lesions in the jejunum, 8 (17.39%) had lesions in the ileum, and 2 (4.35%) had lesions around the junction of the jejunum and ileum. Out of the 46 patients, 27 underwent SBE, and GISTs were visualized in 25, while the lesions could not be visualized in the remaining 2. Submucosal round (n = 13), submucosal sessile (n = 8), and invasive/penetrating (n = 4) were among the endoscopic tumor features. Twenty patients exhibited submucosal protuberant lesions, with ulceration, vascular nodules/congestion, or erosion on the surface, and 5 patients presented ulcerative infiltrative lesions. The multiple logistic regression analysis indicated that the invasive/penetrating characteristics of GISTs under SBE evaluation are significantly correlated with the risk level of GIST malignancy (P < .05). CONCLUSION:  A variety of endoscopic characteristics could be observed during the preoperative SBE evaluation of small-intestine GISTs.

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

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

Ruptured Duodenal GIST in a Young Female - A Rare Presentation and Comprehensive Review.

Gastrointestinal stromal tumors (GISTs) are uncommon mesenchymal neoplasms primarily found in the gastrointestinal (GI) tract. While they typically occur in older adults, GISTs can manifest in individuals of any age. This publication paper presents a case study of a rare occurrence: a spontaneously ruptured duodenal GIST in a young female. Through an in-depth review of the literature, we aim to provide insights into the clinical presentation, diagnostic challenges, management strategies, and long-term outcomes associated with this unique clinical scenario.

RésuméLes tumeurs stromales gastro-intestinales (GIST) sont des néoplasmes mésenchymateux peu communs principalement trouvés dans le tractus gastro-intestinal (GI). Bien qu'elles surviennent généralement chez les adultes plus âgés, les GIST peuvent se manifester chez des individus de tout âge. Cet article présente une étude de cas d'une occurrence rare: une GIST duodénale spontanément rompue chez une jeune femme. À travers une revue approfondie de la littérature, nous visons à fournir des éclairages sur la présentation clinique, les défis diagnostiques, les stratégies de prise en charge et les résultats à long terme associés à ce scénario clinique unique.

Deep learning analysis for differential diagnosis and risk classification of gastrointestinal tumors.

OBJECTIVES: Recently, artificial intelligence (AI) has been applied to clinical diagnosis. Although AI has already been developed for gastrointestinal (GI) tract endoscopy, few studies have applied AI to endoscopic ultrasound (EUS) images. In this study, we used a computer-assisted diagnosis (CAD) system with deep learning analysis of EUS images (EUS-CAD) and assessed its ability to differentiate GI stromal tumors (GISTs) from other mesenchymal tumors and their risk classification performance. MATERIALS AND METHODS: A total of 101 pathologically confirmed cases of subepithelial lesions (SELs) arising from the muscularis propria layer, including 69 GISTs, 17 leiomyomas and 15 schwannomas, were examined. A total of 3283 EUS images were used for training and five-fold-cross-validation, and 827 images were independently tested for diagnosing GISTs. For the risk classification of 69 GISTs, including very-low-, low-, intermediate- and high-risk GISTs, 2,784 EUS images were used for training and three-fold-cross-validation. RESULTS: For the differential diagnostic performance of GIST among all SELs, the accuracy, sensitivity, specificity and area under the receiver operating characteristic (ROC) curve were 80.4%, 82.9%, 75.3% and 0.865, respectively, whereas those for intermediate- and high-risk GISTs were 71.8%, 70.2%, 72.0% and 0.771, respectively. CONCLUSIONS: The EUS-CAD system showed a good diagnostic yield in differentiating GISTs from other mesenchymal tumors and successfully demonstrated the GIST risk classification feasibility. This system can determine whether treatment is necessary based on EUS imaging alone without the need for additional invasive examinations.

Glycolysis in gastrointestinal stromal tumor: a brief overview.

Gastrointestinal stromal tumor (GIST) is the most prevalent mesenchymal tumor of the digestive tract. Its growth is primarily influenced by mutations in KIT or PDGFRA. Surgery is the primary treatment option for GIST; however, KIT inhibitors, such as imatinib, are used for inoperable cases. Resistance to imatinib is an upcoming challenge, especially because the effectiveness of alternative drugs is limited. Enhancement of the glycolysis pathway in cancer cells has been identified as a key feature in cancer. This unique metabolic activity has implications on tumor growth, prognosis, and resistance to therapy, even in GIST. Members of the glucose transporter (GLUT) family (particularly GLUT-1) play a significant role in GIST progression and response to treatment. Diagnostic imaging using 18F-fluorodeoxyglucose positron emission tomography/computed tomography, which enables visualization of glucose metabolism, can aid in GIST diagnosis and risk assessment. The interplay between glycolysis and GIST can lead to the development of various therapeutic strategies, especially those involving glycolysis-related molecules, such as hexokinase and lactate dehydrogenase. However, further research is required to understand the full spectrum of glycolysis in GIST and its therapeutic potential. Herein, we present an exhaustive overview and analysis of the role of glycolysis in GIST, especially as a therapeutic target.

Gastrointestinal stromal tumor of the duodenum presenting with shock and massive upper and lower gastrointestinal bleeding: a case report and review of the literature.

BACKGROUND: Due to rarity of duodenal GISTs, clinicians have few information about its clinical features, diagnosis, management and prognosis. CASE REPORT: We report a case of promptly diagnosed duodenal GIST in a 61-year-old Egyptian man presented shocked with severe attack of hematemesis and melena. Upper gastroduodenal endoscopy was done and revealed a large ulcerating bleeding mass at first part of duodenum 4 hemo-clips were applied with good hemostasis. An exploratory laparotomy and distal gastrectomy, duodenectomy and gastrojejunostomy were performed. The morphology of the mass combined with immunohistochemistry was consistent with duodenal gastrointestinal stromal tumours (GISTs) of high risk type. The patient is on amatinib one tablet daily and he was well with no evidence of tumor recurrence. CONCLUSION: despite being rare, emergency presentation with sudden severe, life-threatening hemorrhagic shock duodenal GISTs might be a cause of potentially lethal massive combined upper and lower gastrointestinal bleeding which is the key feature of this rare and challenging tumor.

Excision of a gastrointestinal stromal tumour in a dog using short-wave infrared fluorescence imaging and indocyanine green.

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.

[Management of gastrointestinal stromal tumors]. / Prise en charge des tumeurs stromales gastro-intestinales.

MANAGEMENT OF GASTROINTESTINAL STROMAL TUMORS. Gastrointestinal stromal tumors (GIST) are the most frequent sarcoma subtype. More than 80% of GIST are characterized by activating mutations in KIT or PDGFRA genes, but rare molecular subtypes exist. Localized GIST can be cured by surgery. Adjuvant treatment with imatinib is the gold standard in high-risk GIST presenting mutations sensitive to this tyrosine kinase inhibitor. The development of tyrosine kinase inhibitors targeting KIT and PDGFRA has revolutionized the prognosis of metastatic GIST, by increasing the median overall survival: from less than 18 months to more than 70 months within 20 years. Similary to other histological subtypes, the diagnostic and therapeutic management of GIST must be referred to sarcoma reference centers.

PRISE EN CHARGE DES TUMEURS STROMALES GASTRO-INTESTINALES. Les tumeurs stromales gastro-intestinales (GIST) représentent le sous-type de sarcomes le plus fréquent. Plus de 80 % des GIST sont caractérisées par des mutations activatrices des gènes KIT ou PDGFRA, mais des soustypes moléculaires plus rares existent. Au stade localisé, les GIST sont des maladies curables par exérèse chirurgicale. Le traitement adjuvant par imatinib est un standard thérapeutique dans les GIST associées à un haut risque de récidive et présentant des mutations sensibles au traitement. Au stade métastatique, le développement des inhibiteurs de tyrosine kinase ciblant KIT et PDGFRA a bouleversé la prise en charge et le pronostic des patients, en augmentant la survie globale : de moins de dix-huit mois il y a une vingtaine d'années à plus de soixante-dix mois aujourd'hui. Comme pour les autres sous-types histologiques, la prise en charge diagnostique et thérapeutique des GIST doit être réalisée dans des centres experts pour la prise en charge des sarcomes.

[Surgical management of gastrointestinal stromal tumors of gastric origin]. / Prise en charge chirurgicale des tumeurs stromales gastro-intestinales d'origine gastrique.

Gastrointestinal Stromal Tumors (GISTs) account for 1 to 2% of gastrointestinal malignant tumors. They are characterized by overexpression of the tyrosine kinase (KIT). 60% of GISTs originate in the stomach. Managing them remains complex and varies depending on several factors such as location, size, molecular biology, type of clinical presentation, and the risks/benefits of surgical treatment. Surgery remains the only curative treatment, while tyrosine kinase inhibitors have demonstrated their efficacy as systemic treatment in the perioperative context. Risk stratification for recurrence guides the choice of adjuvant treatment, with a recommended duration of 3 years for high-risk patients.

Les tumeurs stromales gastro-intestinales (GIST) constituent entre 1 et 2 % des tumeurs malignes gastro-intestinales. Elles se caractérisent par une surexpression de la tyrosine kinase (KIT). 60 % des GIST sont d'origine gastrique. Leur prise en charge reste complexe et varie selon plusieurs facteurs tels que la localisation, la taille, la biologie moléculaire, le type de manifestation clinique et les risques/bénéfices du traitement chirurgical. La chirurgie demeure le seul traitement curatif, tandis que les inhibiteurs de tyrosine kinase ont démontré leur efficacité comme traitement systémique dans le contexte périopératoire. La stratification du risque de récidive guide le choix du traitement adjuvant, avec une durée recommandée de 3 ans pour les patients à haut risque.

Clinical features and prognosis of malignant small bowel tumors: Experience from a university hospital in Chile / Características clínicas y pronóstico de los tumores malignos de intestino delgado: experiencia en un hospital universitario de Chile

Background Small bowel tumors (SBT) are infrequent and represent a small proportion of digestive neoplasms. There is scarce information about SBT in Latin America.AimTo describe the epidemiology, clinical characteristics, diagnostic methods, and survival of malignant SBTs.MethodsRetrospective observational study of adult patients with histopathological diagnosis of SBT between 2007 and 2021 in a university hospital in Chile.ResultsA total of 104 patients [51.9% men; mean age 57 years] with SBT. Histological type: neuroendocrine tumor (NET) (43.7%, n=38), gastrointestinal stromal tumors (GIST) (21.8%, n=19), lymphoma (17.2%, n=15) and adenocarcinoma (AC) (11.5%, n=10). GIST was more frequent in duodenum (50%; n=12) and NET in the ileum (65.8%; n=25). Metastasis was observed in 17 cases, most commonly from colon and melanoma. Nausea and vomiting were significantly more often observed in AC (p=0.035), as well as gastrointestinal bleeding in GIST (p=0.007). The most common diagnostic tools were CT and CT enteroclysis with an elevated diagnostic yield (86% and 94% respectively). The 5-year survival of GIST, NET, lymphoma and AC were 94.7% (95%CI: 68.1–99.2), 82.2% (95%CI: 57.6–93.3), 40.0% (95%CI: 16.5–82.8) and 25.9% (95%CI: 4.5–55.7%), respectively. NET (HR 6.1; 95%CI: 2.1–17.2) and GIST (HR 24.4; 95%CI: 3.0–19.8) were independently associated with higher survival compared to AC, adjusted for age and sex.ConclusionsMalignant SBT are rare conditions and NETs are the most common histological subtype. Clinical presentation at diagnosis, location or complications may suggest a more probable diagnosis. GIST and NET are associated with better survival compared to other malignant subtypes. (AU)

Introducción Los tumores del intestino delgado (TID) son infrecuentes y la información sobre ellos es escasa en Latinoamérica.ObjetivoDescribir la epidemiología, características clínicas, métodos diagnósticos y supervivencia de los TID malignos.MétodosEstudio observacional retrospectivo de pacientes adultos con diagnóstico histopatológico de TID entre 2007-2021 en un hospital universitario de Chile.ResultadosSe observaron 104 pacientes (51,9% hombres; edad media 57 años) con TID. El tipo histológico fue tumor neuroendocrino (TNE) (43,7%, n=38), tumor estromal gastrointestinal (GIST) (21,8%, n=19), linfoma (17,2%, n=15) y adenocarcinoma (AC) (11,5%, n=10). Los GIST fueron más frecuentes en el duodeno (50%; n=12) y los TNE en el íleon (65,8%; n=25). Hubo 17 casos de metástasis, más comúnmente de colon y melanoma. Las náuseas y los vómitos se observaron con mayor frecuencia en AC (p=0,035), así como el sangrado gastrointestinal en GIST (p=0,007). Las herramientas de valoración más comunes fueron TC y enteroclisis por TC con un rendimiento diagnóstico alto (86% y 94%, respectivamente). La supervivencia a cinco años de los GIST, TNE, linfoma y AC fue 94,7% (intervalo de confianza [IC] 95%: 68,1-99,2), 82,2% (IC 95%: 57,6-93,3), 40,0% (IC 95%: 16,5-82,8) y 25,9% (IC 95%: 4,5-55,7), respectivamente. Los TNE (hazard ratio [HR] 6,1; IC 95%: 2,1-17,2) y GIST (HR 24,4; IC 95%: 3,0-19,8) se asociaron de forma independiente con una mayor supervivencia en comparación con AC, ajustado por edad y sexo.ConclusionesLos TID malignos son enfermedades poco frecuentes y los TNE son el subtipo histológico más común. La presentación clínica en el momento del diagnóstico, localización o complicaciones pueden sugerir un dictamen más probable. Los GIST y TNE se asocian a una mejor supervivencia en comparación con otros subtipos malignos. (AU)

Endoscopic Ultrasound-Guided Tissue Acquisition Using Fork-Tip Needle for Subepithelial Lesions: A Single-Center Validation Study.

BACKGROUND: The cutoff value for stereomicroscopic on-site evaluation (SOSE) in endoscopic ultrasound-guided tissue acquisition (EUS-TA) has high diagnostic sensitivity when a Franseen needle is employed for upper gastrointestinal subepithelial lesions (SELs) (stereomicroscopically visible white core [SVWC] ≥ 4 mm). AIM: We aimed to determine whether high diagnostic sensitivity could be obtained when EUS-TA was performed using a Fork-tip needle. METHODS: Twenty-one patients were prospectively registered. Patients underwent EUS-TA using a Fork-tip needle for upper gastrointestinal SELs at Kitasato University Hospital between January and November 2022. Punctures were made twice using the needle, and SOSE was conducted for each specimen. Blood and physical examination were performed to assess adverse events. Pathological diagnosis was made using hematoxylin and eosin-stained sections and immunohistochemical staining. Statistical comparisons were completed using Fisher's exact tests. RESULTS: The diagnostic rate of EUS-TA was 100% (21/21 cases). The final diagnosis was gastrointestinal stromal tumor in 17 (81.0%) and leiomyoma in 4 (19.0%) patients. SOSE was conducted on all 42 punctures, and the tissue sampling rate was 100% (42/42 punctures). Specimens with SVWC ≥ 4 mm were collected in 97.6% punctures (41/42 punctures) and the diagnostic sensitivity for these specimens was 100% (41/41 punctures), which is significantly higher (p < 0.0238) compared to the absence of cutoff value (diagnostic sensitivity of 0%). No EUS-TA-related adverse events occurred. CONCLUSIONS: EUS-TA combined with SOSE for upper gastrointestinal SEL using a fork-tip needle had a high diagnostic rate, and the cutoff value of SVWC ≥ 4 mm had high diagnostic sensitivity.

A Unique Case of Mesenteric Gastrointestinal Stromal Tumor Presenting as an Acute Abdomen.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the digestive tract and arise from the interstitial cells of Cajal in the mesenteric plexus. These tumors can originate in any part of the GI tract; however, a higher burden has been observed in the stomach and small intestines. Mesenteric GISTs are exceedingly rare, with unique clinicopathological features and a poorer prognosis. Herein, we describe a unique case of a 66-year-old female with a remote history of appendectomy who presented to the emergency room complaining of severe abdominal pain and vomiting. On imaging, the patient was found to have a large inflammatory mass associated with small bowel loops, and the pathology confirmed a mesenteric GIST. The tumor was resected, and the genomic test results confirmed the KIT (exon 11) mutation. Although the tumor had a low mitotic rate, the tumor was large enough to warrant the initiation of adjuvant imatinib mesylate for 36 months with regular bloodwork and imaging.

Jejunojejunal intussusception induced by a gastrointestinal stromal tumor: a case report and literature review.

Intussusception is defined as the invagination of a proximal segment of the bowel into the adjoining or distal segment. In most adults with intussusception, there is a demonstrable lead point with a definite pathologic abnormality. The clinical features of intussusception include chronic intermittent abdominal pain, nausea and vomiting, constipation, and a palpable abdominal mass. The present case report describes a 62-year-old woman with a 2-week history of abdominal pain and 9-day history of vomiting. Clinical, imaging, and histologic evaluations revealed a jejunojejunal intussusception with a gastrointestinal stromal tumor as the lead point. A gastrointestinal stromal tumor should be considered as a possible lead point in adult patients with intussusception. The implication of reducing the intussusception prior to tumor resection requires further evaluation in view of the risk of venous embolism, including direct spread of malignant cells, in cases involving a large polypoid mass with a necrotic surface that extends to the serosa as shown by intraoperative examination. Accordingly, the rationale for adjuvant therapy with imatinib also requires further evaluation.

Characteristics of gastrointestinal stromal tumors associated to other tumors / Características de los tumores del estroma gastrointestinal asociados a otras neoplasias

Introduction: Our aim is to analyze the differences between sporadic gastrointestinal stromal tumors and those associated with other tumors. Methods: Retrospective cohort study including patients with diagnosis of gastrointestinal stromal tumors operated at our center. Patients were divided into two groups, according to whether or not they had associated other tumors, both synchronously and metachronously. Disease free survival and overall survival were calculated for both groups. Results: 96 patients were included, 60 (62.5%) were male, with a median age of 66.8 years (35–84). An association with other tumors was found in 33 cases (34.3%); 12 were synchronous (36.3%) and 21 metachronous (63.7%). The presence of mutations in associated tumors was 70% and in non-associated tumors 75%. Associated tumors were classified as low risk tumors based on Fletcher's stratification scale (p=0.001) as they usually were smaller in size and had less than ≤5 mitosis per 50 HPF compared to non-associated tumors. When analyzing overall survival, there were statistically significant differences (p=0.035) between both groups. Conclusion: The relatively high proportion of gastrointestinal stromal tumors cases with associated tumors suggests the need to carry out a study to rule out presence of a second neoplasm and a long-term follow-up should be carried out in order to diagnose a possible second neoplasm. Gastrointestinal stromal tumors associated with other tumors have usually low risk of recurrence with a good long-term prognosis.(AU)

Introducción: El objetivo de este estudio es analizar si existen diferencias entre los GIST esporádicos y los que se presentan asociados a otros tumores. Métodos: Estudio de cohorte retrospectivo de pacientes operados de tumores del estroma gastrointestinal (GIST) en nuestro centro. Se dividió a los pacientes en función de si presentaban otros tumores asociados o no, de forma sincrónica o metacrónica. La supervivencia libre de enfermedad y la supervivencia global se calcularon en ambos grupos. Resultados: Se incluyeron un total de 96 pacientes, 60 (62,5%) eran hombres con una media de edad de 66,8 años (35-84). Se encontró una asociación con otros tumores en 33 casos (34,3%); 12 de manera sincrónica (36,3%) y 21 metacrónica (63,7%). La presencia de mutaciones en el grupo de tumores asociados fue de 70% y en el de no asociados de 75%. Los tumores asociados se clasificaron como tumores de bajo riesgo según la escala de Fletcher (p = 0,001), ya que fueron de menor tamaño y presentaron menos de ≤ 5 mitosis por 50 HPF en comparación con los no asociados. Al analizar la supervivencia global, hubo diferencias estadísticamente significativas entre ambos grupos (p = 0,035). Conclusión: La proporción relativamente alta de casos de GIST con tumores asociados sugiere la necesidad de realizar un estudio para descartar la presencia de una segunda neoplasia y, tras el tratamiento de GIST, elaborar un seguimiento a largo plazo para diagnosticar una posible segunda neoplasia. Los GIST asociados a otros tumores suelen tener un riesgo bajo de recurrencia con un buen pronóstico a largo plazo.(AU)