Differential diagnosis of gastric submucosal masses and external pressure lesions.

The role of endoscopy in subepithelial lesions of the GI tract

Introduction: MALT lymphomas are the most common type of primary gastric lymphomas. Gastric MALT lymphomas tend to display indolent behavior, and usually present as a localized invasion of the mucosa with potential involvement of deeper layers of the stomach wall. It is rare to see MALT lymphoma present as an isolated submucosal gastric mass without involvement of the mucosa. Case Report: A 61-year-old female with no significant past medical history presented 7 months after a work-up for complaints of melena and hematemesis at an outside hospital and was found to have an obstructing distal subepithelial gastric mass with ulcerations and gastritis on EGD. Biopsies showed mild acute and chronic inflammation negative for H. pylori. An EUS FNA was completed at the outside institution, but the FNA was nondiagnostic. She was then referred to our institution for EUS and further evaluation. CT chest/abdomen/pelvis revealed a 3.6 x 2.1-cm gastric antral submucosal mass at the posterior wall. Upper endoscopy revealed a large subepithelial mass in the prepyloric antrum without bleeding. A heterogeneous round well-defined mass was identified endosonographically in the prepyloric region of the stomach arising from the submucosa without associated lymphadenopathy. FNA was then completed with a 22-gauge needle, and the specimen was sent for cytology and flow cytometry. In order to obtain more tissue for diagnosis, a 1-cm incision into the mass was then made with the needle-knife using a free hand technique. Jumbo biopsies were then taken from the submucosal tissue from the incisional site. An Endoclip was placed over the incision with good result. Biopsies from the submucosal lesion showed morphology and immunophenotype consistent with a marginal zone lymphoma. FNA of the submucosal mass showed an atypical lymphoid infiltrate. FISH showed the presence of t(11;18). A monoclonal kappa light chain expressing population of cells was positive for CD20/CD19 and negative for CD5/CD10. She was then referred for definitive radiation therapy after H.pylori treatment. The patient tolerated radiation therapy well, and complaints of abdominal pain, nausea, and vomiting resolved. A follow-up EGD with EUS exhibited that the submucosal lesion had resolved. Discussion: While MALT lymphomas are the most common primary gastric lymphomas, their presentation as a localized gastric submucosal mass remains extremely rare. The diagnosis of MALT lymphoma by endoscopic mucosal biopsy alone became challenging in this case due to the unusual presentation as a submucosal mass. Therefore, EUS with FNA and incision of the mass for deeper biopsies provided the most accurate diagnosis and may become an important way to evaluate submucosal gastric lesions.

Introduction Gastrointestinal Stromal Tumours (GISTs) are usually regarded to be sporadic and solitary by nature. The estimated worldwide incidence of GISTs is 1:1 00 000.¹ Multiple GISTs are an extremely rare phenomena, restricted to paediatric setting or attributed to type 1 neurofibromatosis (NF1), familial GIST syndrome, Carney’s Triad or sporadic by nature. We present a 29 year-old female, unrelated to any known hereditary syndrome, who was found to have 16 sporadic multiple gastric GISTs. Case report The patient, with no current co-morbities, presented with a 5 day history of epigastric pain and melaena. An OGD was performed, showing a large GIST and an adherent clot. The surrounding antrum looked deformed, suggestive of further GIST tissue; multiple biopsies from the larger GIST heralded only reflux/reactive gastritis. Following this, a staging CT found an exophytic, 42 mm gastric mass, with multiple submucosal heterogeneous lesions along the entire length of stomach, with no enlarged lymph nodes or metastases. An endoscopic ultrasound (EUS) demonstrated at least 6 submucosal lesions with typical features suggestive of GISTs. Fine needle aspiration with EUS confirmed epitheliod gastrointestinal tumours. Following an upper-gastrointestinal (GI) multidisciplinary meeting, the patient underwent a laparoscopic subtotal gastrectomy with Roux-en-Y gastrojejunostomy. Histopathology highlighted 16 GISTs, with range percentage of progressive disease between 0%–16%; immunohistochemistry confirmed GISTs with DOG-1, CD117 and CD34 positivity. The patient underwent a PET CT and referred to oncology services for consideration for Imatinib. Discussion The presence of multiple sporadic GISTs is extremely rare, with only one case-report in the literature. The patient had a reported normal paediatric development. She had no physical signs of NF-1 and there were no family history of GISTs. It is certainly unclear if her multiple lesions were the result of metastatic spreading of a single primary GIST. Certainly further research is required to explore this phenomenon. Despite a ‘tunnelled’ approach to biopsing the GIST, an OGD was not an effective way of achieving histological diagnosis, and highlighted the continuing importance of EUS and fine needle biopsy in the diagnostic investigations of upper GI lesions. Surgery remains the cornerstone to treatment, despite the availability of targeted chemotherapy. Understandably, a subtotal gastrectomy for this young patient may have psychological and nutritional long-term sequelae. Reference . Graziosi L, et al. Unique case of sporadic multiple gastrointestinal stromal tumour. Int J Surg Case Rep2015;9:98–100.

Background: Submucosal lesion is a mass or bulge covered by normal-appearing mucosa identified during standard endoscopy. Endoscopic Ultrasound (EUS) allows precise differentiation of the individual layers of the gastrointestinal (GI) tract. Endoscopic Ultrasound-Fine Needle Aspiration (EUS-FNA) permits safe and accurate sampling of submucosal lesions (SMLs) for further histopathology. Gastrointestinal stromal tumors are the commonest mesenchymal neoplasms of the GI tract. They should be stratified by malignant potential according to tumor size, location, and mitotic count. Objectives: The aim of work was to evaluate the role of endoscopic ultrasound with EUS-FNA in management of submucosal gastrointestinal lesions, with special concern about gastrointestinal stromal tumors (GISTs) lesions and the criteria highly associated with malignant nature. Patients and methods: This multi-center prospective study included a total of 150 patients with gastrointestinal submucosal lesions, conducted to evaluate EUS and EUS-FNA as diagnostic tools of submucosal lesions, including 68 GIST lesions. All patients underwent conventional endoscopy, EUS-FNA and histopathological examination of the samples obtained in Theodor Bilharz Research Institute, Cairo University Hospital and Kobry El Qubba Military Hospital from 2015 to 2017. Results: There were 150 patients with submucosal GI lesions, including 93(62%) males and 57(38%) females, with the mean age of 52±11.9 years. Presentations included dyspepsia 73(48.7%), asymptomatic SMLs 31(20.7%). The lesions were mainly gastric 102(68%). Final diagnoses were GIST 68 (45.3%), lipoma 11(7.3%), leiomyoma 9(6%) and extramural lesions 7(4.7%). There were 68 patients with GIST lesions, including 43(63.2%) males and 25(36.8%) females, with the mean age of 54±10.3 years. Presentations included dyspepsia 41(63.2%), asymptomatic SMLs 16(23.5%). The lesions were mainly gastric 57(83.8%). Sensitivity and specificity were 88.6% and 100% of EUS-FNA as diagnostic tools for GIST lesions respectively. (PPV) and (NPV) were 100% and 82.8% respectively. Conclusion: It could be concluded that EUS and EUS-FNA were highly significant methods in diagnosis of GIST lesions in relation to final histopathology.

BackgroundAccessory spleen, or splenunculus, is a congenital anomaly resulting from failure of splenic anlage fusion during embryonic development. It is most commonly located near the splenic hilum or pancreatic tail and rarely occurs within the stomach wall. Gastric accessory spleen is a rare entity that may mimic submucosal neoplasms such as gastrointestinal stromal tumour, posing a diagnostic challenge.Case presentationWe report the case of a 37-year-old male presenting with a 3-month history of epigastric pain, dyspepsia, and nausea. Endoscopy revealed a 2.5–3 cm submucosal mass in the gastric fundus with intact mucosa, and erosive antral gastritis. Endoscopic ultrasound demonstrated a 22.6 × 17.2 × 23.3 mm hypoechoic, homogeneous lesion arising from the third layer of the gastric wall. Endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) showed lymphoid aggregates with characteristic vascular structures lined by CD8-positive littoral cells and CD68/PGM1-positive macrophages. Immunohistochemistry excluded epithelial, neuroendocrine, and lymphoproliferative neoplasms, confirming the diagnosis of gastric accessory spleen.DiscussionThis case is distinctive because the patient had no prior splenectomy or trauma and was diagnosed preoperatively using EUS-guided biopsy—avoiding unnecessary surgery. Gastric accessory spleen remains a rare but important differential diagnosis for submucosal gastric lesions. Recognition of its imaging and histopathologic features can prevent misdiagnosis and overtreatment.ConclusionGastric accessory spleen is a benign, rare condition that should be considered in patients presenting with gastric submucosal masses. Non-invasive diagnostic modalities such as EUS-FNB and immunohistochemistry are essential to achieve an accurate diagnosis and to avoid unnecessary surgical resection.LEARNING POINTSGastric accessory spleen is a rare, usually incidental finding with no clinical significance.It should be considered as one of the differential diagnoses of gastric subepithelial lesions.Despite the fact that histopathologic evaluation remains the gold standard, both nuclear scintigraphy and enhanced computed tomography scan may be useful in the diagnosis of ectopic splenic tissue.

Introduction: The submucosal lesions of the gastrointestinal tract are often discovered during gastroscopy as intact epithelium-covered or exulcerated alterations. They are detected either incidentally or as the cause of gastrointestinal bleeding. Biopsies taken from the surface of the mucosa do not provide meaningful assistance in the characterization of the lesions. Endoscopic ultrasonography (EUS)-guided fine needle aspiration cytology (FNA) has a key role in the diagnosis of theise tumors. Results: In 2013 and 2014, during the EUS examinations of the esophagus, stomach and duodenum, submucosal protruding lesions were described in 19 cases. The average age of the patients was 66.46 years. Gender distribution: female: 5 (26%), male: 14 (74%). The number of gastric lesions was 13 (68%). In the group of gastric lesions, due to histologically confirmed adenocarcinoma of the stomach FNA was not performed in two cases (15.3%). FNA was performed on 11 patients (84.6%). The overall results of the EUS-FNA were diagnostic, suggestive, and nondiagnostic in 6 (54.5%), 4 (36.4%), and 1 (9%) cases respectively. Distribution of cytological results: C1: 1 (9%), C2: 8 (72.7%), C3: 1 (9%) C5: 1 (9%). Gastrointestinal stromal tumor (GIST) had the greatest proportion of the diagnoses: 4 cases (36.4%). Each of the cases listed below had a single occurence (9% of the total): lipoma, pancreatic cyst, abscess, leiomyogen tumor, low-differentiated adenocarcinoma, lymphoma, metastasis in lymph node of ductal, and tubular adenocarcinoma. Conclusion: Our results correlate with the data we have found in the international literature. The endoscopic ultrasound is of paramount importance in the diagnosis of gastric submucosal lesions. We suggest that into the diagnostical algorithm of gastric submucosal lesions detected during routine gastroscopy, EUS should be introduced as the second step, with FNA (when necessary).

Immunohistochemical Spectrum of GISTs at Different Sites and Their Differential Diagnosis with a Reference to CD117 (KIT)

Digital Image Analysis (DIA) Is a Useful Adjunct to Endosonographic Diagnosis of Submucosal Lesions (SML) of the Gastro-Intestinal Tract

IgG4-related disease of the stomach is a rare disorder, and only a few cases have been reported. We present two cases that were identified over a 2-month period in our center. Two male patients aged 52 and 48 years presented with mass lesion in the stomach, which were clinically thought to be gastrointestinal stromal tumor, and they underwent excision of the lesion. Microscopic examination revealed marked fibrosis, which was storiform in one case, associated with diffuse lymphoplasmacytic infiltration and an increase in IgG4-positive plasma cells on immunohistochemistry. Serum IgG4 level was markedly elevated. Although rare, IgG4-related disease should be considered in the differential diagnosis of gastric submucosal mass lesions.

Artificial intelligence: finding the intersection of predictive modeling and clinical utility

Endoscopic Ultrasound for Diagnosis and Surveillance of Gastrointestinal Stromal Tumors in an 11‐Year‐Old Child

We evaluated the accuracy of high-resolution transabdominal sonography (TAUS) in identifying and characterizing gastric submucosal masses previously detected by endoscopy. Patients given endoscopy for suspected submucosal gastric lesions and 2 patients with gastric wall cysts were enrolled. Patients underwent TAUS and then endoscopic sonography (EUS) on the same day, and the sonographic results were compared with endoscopic and histologic findings. Among 101 patients with gastric submucosal masses on endoscopy, TAUS revealed a mass in 94 (93%); of these 94 patients, 60 underwent EUS. The final diagnoses were 31 leiomyomas, 10 leiomyosarcomas, 13 ectopic pancreases, 2 cysts, and 1 glomus tumor, 1 carcinoid tumor, 1 lipoma, and 1 fibroma. Leiomyomas (mean size, 3.2 cm) and leiomyosarcomas (mean size, 7.1 cm) were shown sonographically to originate from the muscular layer. Ectopic pancreases (mean size, 1.2 cm) were shown to originate from the submucosal layer and had a homogeneously echogenic pattern. Gastric cysts were found in the submucosal layer and were anechoic. The glomus tumor and the carcinoid tumor were found in the muscular layer and were hypoechoic. The lipoma and the fibroma were located in the submucosal layer and were echogenic on TAUS. TAUS had a detection rate of 93% in visualizing submucosal gastric masses previously identified by endoscopy. TAUS is less invasive than EUS and can be used to follow submucosal gastric masses that are not excised.

Background.Although endoscopic ultrasound (EUS) has improved the diagnostic of potential malignancies, gastric lesions with suspicion of gastrointestinal stromal tumors (GIST) or benign lesions like lipoma or leiomyoma can often not be accurately differentiated by EUS, therefore, requiring tissue sampling with the risk of bleeding complications especially in GIST. As with the newest generation of EUS machines, contrast-enhanced harmonic endoscopic ultrasound (CEH-EUS) has become a new option to determine perfusion characteristics. The aim of this analysis was to evaluate whether CEH-EUS may help to discriminate various submucosal lesions. Methods.Data sets of 17 patients with suspicious gastric or esophageal lesions, who were investigated with CEH-EUS were analyzed. Perfusion characteristics were classified by the investigator immediately and statistically analyzed after investigation. Samples from EUS-fine needle aspirates, biopsy samples after needle cut or surgical specimen served as gold standard. Results. CEH-EUS showed nine lesions with reduced contrast enhancement (maximum intensity 6.2 ± 1.9 db) and eight lesions with hyperenhancement (47.3 ± 11.6 db). The latter eight lesions were all histologically identified as GIST, while the nine hypoenhanced lesions emerged to be four lipoma and five leiomyoma. Statistical analysis corresponded with initial perfusion classification in all cases. Conclusion.This is the first study showing that CEH-EUS can discriminate GIST from benign lesions with good accuracy. In the future, CEH-EUS-guided discrimination may lead to individualized diagnostic and therapeutic strategies in handling submucosal lesions.

Purpose: Introduction: Heterotopic pancreas (also termed as pancreatic rests) is a rare congenital anomaly of the gastrointestinal tract. Presence of heterotopic pancreatic tissue within the stomach is a rare cause of gastric outlet obstruction. We report an interesting case of gastric outlet obstruction as a complication of heterotopic pancreas presenting as a submucosal cyst in the gastric antrum diagnosed with endoscopic ultrasound (EUS). Case report: A 22 year old female with history of gastroesophageal reflux disease presented with 6 week history of progressively worsening nausea, emesis, heartburn and early satiety with weight loss. Esophagogastroduodenoscopy to the descending duodenum revealed a large, submucosal antral gastric lesion with partial gastric outlet obstruction. Abdominal computer tomography showed a 4 cm×2.7 cm low-density mass in the distal stomach. Subsequent EUS demonstrated a large 5 cm submucosal cystic lesion in the gastric antrum in layer three. EUS guided fine needle aspiration of the cyst revealed amorphous material. Biochemical studies of the fluid showed elevated amylase level with a value of 4,878 U/L and a CEA level of 96.6 ng/ml. Due to persistent symptoms, patient subsequently underwent distal gastrectomy with Roux-En-Y anastomosis. Final histological diagnosis showed gastric heterotopic pancreas. Discussion: Heterotopic pancreas is defined as the presence of pancreatic tissue outside normal pancreas that lacks anatomic or vascular continuity with main pancreas itself. Most common sites for heterotopic pancreas are stomach (25-38%), duodenum and jejunum. Complications include mechanical obstruction like gastric outlet obstruction in our patient, cyst formation, acute or chronic pancreatitis, bleeding due to ulceration and malignant transformation. Differential diagnosis of gastric submucosal lesions includes gastrointestinal stromal tumors, duplication cyst, lymphoma and gastric carcinoma. On endoscopy, heterotopic pancreas appears as a broad based submucosal lesion that may have umblication on the mucosal surface indicating the site of draining duct. EUS has proven to be very useful in diagnostic evaluation. Fine needle aspiration via EUS allows cytological evaluation of submucosal lesions which can usually confirm the diagnosis. Definite diagnosis of pancreatic heterotopia is by histology of the lesion. Symptomatic lesions are treated surgically. Submucosal lesions of gastrointestinal tract present a diagnostic challenge for gastroenterologists. Heterotopic pancreas, albeit a rare entity, should be considered in cystic lesions of gastric wall causing gastric outlet obstruction.

Synchronous gastric leiomyoma and intramuscular abdominal wall granular cell tumor with similar imaging features: A case report