Submucosal Lesions Research Articles

Bleeding Varices as the First Presenting Sign of a Neuroendocrine Tumor

Introduction: Noncirrhotic portal hypertension NCPH is defined as a syndrome with portal-caval pressure gradient exceeding 5mm Hg in the absence of cirrhosis. A wide spectrum of systemic diseases can result in NCPH, including infiltrative diseases and malignancy. To our knowledge, we report the first case of neuroendocrine tumors (NET) resulting in NCPH. Case: A 60 year old female presented with one day of melena, worsening fatigue, and dyspnea. Per patient report, she was admitted 2-3 months prior at an outside hospital with melena. She underwent upper and lower endoscopy at that time, reportedly requiring the removal of several tumors and polyps. She reported multiple bowel movement with black streaks that later developed into large volume black, tarry stools. She was hemodynamically stable and physical exam was unremarkable. Bloodwork was remarkable for microcytic anemia. She subsequently underwent upper endoscopy that revealed a 2cm submucosal lesion at the gastroesophageal junction (GEJ) and bleeding gastric varix. Hemostasis was achieved during the procedure. CT liver showed several hepatic hypodensities, some ill-defined. IR guided liver biopsy revealed well-differentiated intermediate grade NET, most likely gastrointestinal in origin due to the positive CDX2 stain. The surrounding liver parenchyma was normal without evidence of fibrosis. MRI liver showed innumerable hepatic metastasis and portal hypertensive changes. Liver metastasis was confirmed on octreoscan obtained prior to discharge - no extrahepatic sites of metastasis were found. Patient's hemoglobin stabilized, and he was discharged with close follow up.Figure: MRI of Liver.Discussion: NETs arise throughout the body. However, NETs of the digestive tract are an uncommon finding, with an annual incidence of 3.65 per 100,000. These tumors are typically indolent in their course, but up to 40% have already metastasized at diagnosis. NET is not usually directly associated with portal hypertension. The liver is the most common site of metastasis, but have never been reported in the literature to result in NCPH. Other infiltrative diseases such as sarcoidosis, mastocytosis, and lymphoma are more commonly associated with NCPH. Here we illustrate an unusual presenting sign for NET, variceal bleeding resulting from noncirrhotic portal hypertension.Figure: Endoscopy showing bleeding gastric varies.Figure: Octreotide scan.

Endoscopic Ultrasound Findings of Colitis Cystica Profunda With Literature Review

Introduction: Colitis Cystica Profunda (CCP) is a rare benign disease of the colon and rectum of uncertain etiology. Its recognition is important since it often mimics malignant processes. We review a case of CCP in a 50-year-old patient, with emphasis on endoscopic ultrasound findings and present review of the current literature. Case description: 50-year-old male with no past medical history was referred to our institution for further evaluation of a large multilobulated mass in the left proximal colon found on screening colonoscopy. We performed colonoscopy with endoscopic ultrasound and fine needle aspiration and snare polypectomy. Colonoscopy up to the transverse colon revealed a large multilobulated submucosal mass with normal overlying mucosa that extends from 50 cm to 70 cm from the anal verge (fig.1). The endosonographic examination revealed anechoic, round, well demarcated lesions with a hyperechoic rim and hypoechoic foci within (fig.2). They were located within the deep mucosa and submucosal layer. The muscularis propria was intact. The largest submucosal lesion measured 18.6 mm x11.4 mm. Small amount of fluid was aspirated by FNA from two lesions. Snare polypectomy of one of the lesions was then performed. The polypectomy site was closed with two endoclips. Histological examination showed multinucleate giant cells in a background of benign colonic elements and mucin consistent with a diagnosis of CCP. Discussion: CCP is an uncommon benign entity that mimics malignancy on endoscopic views but histologically characterized by mucin-filled cysts beneath the muscularis mucosa. It can present in a localized form with a polypoid lesion or more diffusely along the gastrointestinal tract. Endoscopically, CCP are polypoid lesions covered by normal, edematous or ulcerated mucosa. There are few case reports of the endosonographic features of CCP. They were described as hypoechoic or anechoic lesions involving the mucosa or submucosa, with areas of echorefringent fibrosis between lesions by Hulsmans, F.J., et al. In another case report by Sultan et al. the EUS findings of CCP were described as hypoechoic lesion with cystic/spongy features involving the mucosa and submucosa. Our case depicted similar features of well demarcated mucosal and submucosal anechoic lesions with hypoechoic foci surrounded by hyperechoic rim. Colonic EUS can be a useful tool to assist in establishing the diagnosis of CCP.Figure: Colonoscopy showing large multilobulated submucosal mass with overlying normal looking mucosa.Figure: Endosonographic imaging showing anechoic, round, well demarcated lesions.

Gastric Arteriovenous Malformation: A Unique Case of a Rare Phenomenon

Angiodysplasias are vascular lesions associated with predisposing conditions and are often culprits of gastrointestinal bleeds. True arteriovenous malformations are congenital and rare causes of intestinal bleeding. This case is unique in regards to its presentation of AVM disease. A 34 year old caucasian male with a history of obesity and alcohol abuse presented with hematemesis, melena, and fatigue for four days. He denied any abdominal pain or prior history of gastrointestinal bleeding. Initial hgb was 6.2; EGD was significant for a submucosal lesion with an overlying ulcer and visible vessel in the gastric fundus. EUS was done and exhibited a tortuous vessel arising from the left gastric vein within a thick gastric fold, concerning for gastric varix or congenital AVM. A CT Abdomen showed no evidence of cirrhosis or portal/splenic vein thrombosis. Emergent IR angiogram was performed for recurrent hematemesis revealing a dilated left gastric artery and early draining vein consistent with a congenital AVM; subsequent embolization of the left gastric artery was done. Hospital course was complicated by hematuria and diffuse alveolar hemorrhage and he was treated empirically with Cytoxan and steroids for possible underlying vasculitis, although diagnostic workup was inconclusive. He passed away from multi-organ failure. True AVMs of the GI tract are developmental defects that stem from obstinate communication between arteries and veins within the submucosa. Angiodysplasias are typically found in the ascending colon while AVMs are usually found in the rectum or sigmoid colon and very rarely involve the gastric mucosa with only a handful of cases reported in the literature. Within the umbrella of bleeding AVM disease, gastric involvement has only been seen in about 1% of cases mainly in patients above the age of 60. While EUS can assist with diagnosis, angiography remains the gold standard. Cases like this warrant investigation for unusual underlying diseases such as hereditary hemorrhagic telangiectasia, vasculitis, and amyloidosis which have occasionally been shown to be associated with intestinal arteriovenous malformations. The case described is distinctive not only in regards to the discovery of a true gastric arteriovenous malformation in a patient with no significant prior medical conditions but also due to its presentation at such a young age. Continued investigations of AVM disease are essential to assist the medical community in managing future cases.Figure: Initial EGD showing submucosal lesion with an overlying ulcer and visible vessel in the gastric fundus.Figure: EUS of gastric lesion significant for a 4 mm torturous vessel arising from the left gastric vein within a thick 2 cm gastric fold.Figure: Left gastric artery angiogram revealing dilated artery and early draining vein consistent with a congenital AVM.

A Rare Case of Rectal Carcinoid in a Young Female With SLE

Carcinoids slow-growing tumors that originate in cells of the diffuse neuroendocrine system with majority from the midgut. Arising from the enterochromaffin cells and the characteristic feature of converting tryptophan to serotonin and exhibiting signs and symptoms of serotonin syndrome, this tumor is commonly seen in African Americans. Our case is is a young female diagnosed with rectal carcinoid tumor. 28 yo female with a hx of SLE for 3 years presents to the emergency department with complaints of intermittent left sided abdominal discomfort and pain for approximately 3 weeks duration. She characterized the pain dull nagging-like, associated with nausea, no vomiting, no association with sleeping or laying supine, that regressed in 30 minutes. She was discharged after conservative management with PPI and outpatient clinic follow up in 4 weeks. She presented 2 months later with continued abdominal pain now associated with 3 lbs unintentional weight loss, bloating, with diarrhea/ constipation. EGD perfromed revealed minor erythematous mucosa that was negative for h.pylori on biopsy. Colonoscopy revealed a 1 cm soft, submucosal lesion appearing with a yellowish hue just proximal to the dentate line. Biopsies showed a well differentiated neuroendocrine tumor tumor less than 1mm in diameter. IHC staining positive for synaptophysin and KI-67. Patient underwent a endoscopic sub mucosal resection showing a 0.7 cm well-differentiated, neuroendocrine tumor with uninvolved margins.Figure: Normal goblet cells with mucin production when compared with abnormal well differentiated nests of cells.Figure: Abnormal NES cells stained via Synaptophysin, marker for neuroendocrine tumors; Immunohistochemistry.GI Carcinoid tumors arise mainly in 6th decade of life. NANETS guidelines for screening recommends serum serotonin, chromogranin A and urine serotonin and 5- HIAA. No blood tests are of value in detecting NET tumors. Once diagnosed by endoscpy, endoscopic mucosal resection/radical surgery is recommended. Surveillance after intervention depends on staging. In our literature review, there has been only 3 other cases of patient with SLE diagnosed with rectal carcinoid at a young age. Prospective studies are linking auto-immune diseases to early onset of neuroendocrine tumors. Majority of these tumors do not present with symptoms and are found incidentally. It is imperative to diagnose these cases early as risk of metastasis to the liver may occur up to 3 years even after endoscopic removal. There are limited studies and case presentations available to medical population and therefore it is important to be familiar with the the NANETS guidelines for diagnostic and therapeutic intervention.

Inverted Appendix: Be Cautious, It is not a Colonic Polyp

Appendicular inversion is a rare and unusual finding on colonoscopy. In this case series we illustrate two cases of appendicular inversion presenting as intestinal polyps. The goal of this case series is to familiarize gastroenterologists and surgeons with the appearance of appendicular inversion on colonoscopy, with the aim to avoid the potentially disastrous complication of an accidental “polypectomy” of the appendix, leading to intestinal hemorrhage, perforation and/or peritonitis. A 50 year old female patient with previous history of colonic polyps presented for surveillance colonoscopy. A polypoidal lesion with normal overlying mucosa with both white light and narrow-band imaging (NBI) was seen in the cecum. Although the lesion appeared to be an inverted appendix due to its location near the cecum, a biopsy was taken for confirmation. Histopathological examination showed colonic mucosa with a lymphoid aggregate, supporting the diagnosis of an inverted appendix. A 41-year-old female with past medical history of Hepatitis C had outpatient colonoscopy for evaluation of hematochezia. Colonoscopy revealed a polypoidal lesion with central umbilication in the cecum with normal overlying mucosa with both white light and NBI. Histopathological examination of biopsy specimen confirmed colonic mucosa with lymphoid aggregate. Endoscopic appearance of Inverted appendix may mimic an intestinal polyp or submucosal lesion. Inadvertently removing this cecal lesion by snare polypectomy or Endoscopic Mucosal Resection (EMR) during colonoscopy without accurate and prompt recognition can lead to serious complications such as hemorrhage, perforation, peritonitis and sepsis. Therefore, an inverted appendix must always be on the differential for any cecal polyp encountered during colonoscopy especially adjacent to appendicular orifice. Visualizing the lesion's mucosa under both white light and narrow-band imaging can aid in the diagnosis of an appendiceal inversion. In addition, central umbilication of the lesion suggests the presence of an inverted appendix. Although appendiceal inversion is an uncommon finding, it is crucial for gastroenterologists to familiarize themselves with its gross appearance during colonoscopy in order to avoid the aforementioned complications.Figure: Inverted appendix with central umbilication under white light.Figure: Narrow-band imaging of an inverted appendix.

Recurrent Jejunal Intussusception From Heterotopic Pancreas

Introduction Heterotopic or ectopic pancreas is usually asymptomatic. We present a unique case of heterotopic pancreas of the jejunum causing recurrent jejunal intussusception. Case description A 39-year-old male presented locally with a one-year history of recurrent left mid abdominal discomfort. Prior contrast-enhanced computed tomography (Figure 1) was reviewed and showed two areas of jejunal intussusception (arrows). Subsequent diagnostic laparoscopy done at his local hospital was unrevealing. Given ongoing recurrent pain, he came for further evaluation. On examination at our institution, the patient did have pain to palpation in the left mid abdomen without an appreciated mass. Laboratory evaluation revealed a normal complete blood count, liver test and chromogranin A. Capsule endoscopy did visualize a submucosal jejunal lesion. Double balloon enteroscopy showed a 3-centimeter distal jejunal submucosal umbilicated mass (Figure 2). The biopsy of the lesion showed normal jejunal mucosa without dysplasia. Small bowel resection was recommended for definitive diagnosis and to treat the probable recurrent intussusception. Pathologically, a solid 1.2 x 0.8 x 0.6 cm submucosal mass was found. The biopsy result showed benign jejunum with pancreatic glands and ducts extending from the mucosal surface to the muscularis propria consistent with heterotopic pancreatic glands (Figure 3, HE, x10). He has had no further episode following the surgery.FigureFigureFigureDiscussion We present a rare case of heterotopic pancreas of the jejunum causing recurrent jejunal intussusception. Heterotopic (or ectopic) pancreas is a rare congenital anomaly defined as pancreatic tissue that lacks anatomical or vascular communication with the normal body of the pancreas. It is usually found in the stomach, duodenum and jejunum. It generally has a diameter of 1-4 cm and is commonly submucosal in nature. Heterotopic pancreas is commonly asymptomatic but can cause pancreatitis, abscess, pseudocyst, malignant transformation, or local complications such as obstruction or intussusception. The diagnosis of this lesion can be challenging. Endoscopic features include umbilication and duct opening, but these findings are non-specific. Endoscopic biopsies are generally superficial and not diagnostic. As the diagnosis is challenging, surgical or endoscopic excision is recommended for both diagnosis and treatment.

Duodenal Schwannoma: An Incidental Finding on PET Scan

Introduction: Gastrointestinal schwannomas (GS) are benign nerve sheath tumors arising from Auerbach's plexus. They are rare, accounting for 0.4-1% of all submucosal tumors. GS are most common in the stomach followed by small bowel, then colon and rectum. They may be associated with neurofibromatosis or present as isolated lesions. We present an incidental finding of duodenal schwannoma (DS). Case report: A 58 year old male with history of HTN presented as an outpatient for evaluation of an FDG-avid incidental duodenal mass discovered on PET scan. He was initially found to have nontender cervical lymphadenopathy on routine dental exam. He was otherwise asymptomatic and physical exam was unremarkable. He had no significant past surgical, family, or social history. A lymph node biopsy revealed poorly differentiated squamous cell carcinoma (SCC) of unclear origin. He then underwent PET scan, which identified an oral and duodenal lesion. Primary site of cancer was later confirmed as oropharyngeal SCC, for which he underwent modified radical neck dissection and adjuvant chemoradiation. The duodenal lesion was further evaluated with EGD/EUS with FNA. Endoscopically, an 18x12 mm pedunculated, subepithelial lesion with a long, broad-based stalk was seen in the second portion of the duodenum. Sonographically, it appeared mostly hypoechoic with internal hyperechoic, non-shadowing regions. The exact wall layer of origin could not be delineated. FNA revealed a spindle and epithelioid cell neoplasm, which stained positive for S-100 and SOX10, but negative for CD117, DOG-1 and desmin, supporting the diagnosis of DS. Laparoscopic-assisted, minimally-invasive transduodenal resection is currently scheduled.Figure: Endoscopic view of 18x12mm pedunculated duodenal lesion.Discussion: GS is a mesenchymal tumor of the GI tract. Endoscopic and radiologic exams can identify submucosal lesions but cannot differentiate between the types of mesencyhmal tumors. The diagnosis is made histologically, with immunohistochemical staining for S-100 indicating GS. Although benign, schwannomas can demonstrate avid FDG uptake on PET imaging, and may be mistaken for malignant lesions.GS are typically asymptomatic but can present with nonspecific symptoms. Surgical excision or endoscopic submucosal dissection is recommended for large tumors to avoid complications, such as bleeding or bowel obstruction. Endoscopic surveillance is an option for smaller tumors with asymptomatic presentation due to the benign nature of GS.Figure: Sonographic image of the duodenal lesion taken during EUS.Figure: Fine needle aspiration of subepithelial duodenal lesion showing spindle and epithelioid cell neoplasm, favoring schwannoma (A). Tumor cells positive for schwannoma markers S100 (B) and SOX10 (C).

An Unexpected, Rare and Potentially Dangerous Bump in the Road: Appendiceal Mucocele

Appendiceal mucocele is a rare pathologic entity with an incidence of 0.2% to 0.7% of all appendectomies.It is characterized by a distended appendix filled with mucoid material. These lesions are typically noted as incidental findings following radiographic or endoscopic evaluation. Patients are often asymptomatic or have nonspecific symptoms such as intermittent colicky abdominal pain. A 37-year-old man with no significant medical history presented with diarrhea and intermittent hematochezia for 4 months and associated mild lower abdominal cramping. Review of systems was negative for fevers, melena, weight loss, change in appetite, nausea, vomiting or early satiety. Physical exam revealed mild left lower quadrant discomfort with palpation. Laboratory studies were unremarkable. Stool studies including clostridium toxin and stool culture were negative. Subsequent colonoscopy showed erythematous mucosa in the rectum and recto-sigmoid colon as well as a submucosal lesion measuring 4 centimeters in the cecum (Fig 1). Biopsy revealed colonic mucosa with no pathologic abnormality. CT of the abdomen and pelvis with contrast showed a 10.6x3.0x3.2 cm tubular shaped mass that was appendiceal in origin, likely a mucocele with extension and intussusception into the ascending colon (Fig 2). The patient was treated with oral mesalamine and hydrocortisone enemas, which improved his symptoms. He was discharged home and had an outpatient uncomplicated laparoscopic appendectomy performed (Fig 3). Histology revealed a benign mucinous cystadenoma. Prompt resection of appendiceal mucocele is essential due to poor sensitivity of imaging studies to exclude a neoplastic component within the mucocele. Surgical approach is based on radiographic and endoscopic characterization. Laparoscopic or open appendectomy or hemicolectomy can be performed, with the more invasive approaches reserved for non-homogenous mucoceles with involvement of adjacent structures. Extreme care must be taken during resection to prevent seeding of the peritoneum with mucinous cells as this may lead to pseudomyxoma peritonei. Follow-up imaging in one year may be considered if the peritoneum was contaminated. Colonoscopy is essential in the pre-operative evaluation as approximately 20% of patients may have a concomitant colorectal adenocarcinoma. The course and prognosis depends on the histologic subtypes. Overall, survival is excellent (91-100%) following prompt resection of non-neoplastic appendiceal mucoceles.Figure: Colonoscopic image showing a 4 cm submucosal mass at the cecum.Figure: (A-Transverse cross-section, B-Coronal cross-section): Contrast-enhanced computed tomography scan showing a 10.6 x 3.0 x 3.2 cm tubular shaped mass (arrow) which measures just above fluid attenuation (26 Hounsfield units) and is believed to be appendiceal in origin, likely a mucocele. Also extension, intussusception into the ascending colon is noted.Figure: A- Intraoperative view of appendiceal mass during laparoscopic appendectomy. B- Excised specimen measuring approximately 10 am in largest diameter. C- Specimen transected to reveal gelatinous material.

Gastric Neuroendocrine Tumor: A Rare Tumor With Different Types

Gastric neuroendocrine tumors (GNETs) are rare submucosal lesions that arise from enterochromaffin-like cells of the stomach. GNETs consist of a large group of neoplasms comprising tumor types of varying pathogenesis, biological behavior and histomorphologic characteristics. GNETs are a rare disease with a reported incidence of 1 to 2 cases/1,000,000 persons per year, comprising 8.7% of gastrointestinal neuroendocrine tumors, less than 2% of all NETs and less than 1% of all stomach neoplasms. Considering the rarity of this neoplasm, we are reporting a case with this disease focusing on the importance of a timely diagnosis in improving outcomes. 63-year-old female presented with progressive dysphagia and postprandial emesis of few weeks duration. CT and EGD showed pre-pyloric submucosal non-obstructing mass measuring 3x3 cm. Endoscopic Ultrasound (EUS) showed a well-defined round mass arising from the muscularis propria measuring 4x4 cm. Fine needle biopsy (FNB) showed well-differentiated neuroendocrine tumor. This diagnosis was supported by strong and diffuse immunoreactivity for Cam 5.2 and synaptophysin. Chromogranin showed patchy positivity. Ki-67 stain showed positivity in less than 2%. She underwent subtotal gastrectomy and lymph node dissection with follow up Octreotide scan showing no abnormal focal radiotracer uptake to suggest residual or metastatic tumor. GNETs are classified into four clinicopathological types. Type I is the most common, related to atrophic gastritis, represents as multiple neoplasms and has an excellent prognosis after resection. Type II is related to hypergastrinemia secondary to gastrin-secreting tumor. Both type I and II are usually benign with low malignancy risk. Type III is a sporadic tumor, solitary and infiltrating, well-differentiated and usually accompanied by angioinvasion and lymph node metastasis resulting in a poorer prognosis. Type IV is rare, usually solitary, poorly differentiated with an aggressive behavior and extremely poor prognosis. Our patient had type III GNET with good response to surgical treatment and no residual tumor on follow up implicating the importance of a timely diagnosis of such tumors to improve outcomes. In conclusion, type III GNETs is a sporadic tumor usually accompanied by local invasion and lymph node metastasis resulting in a poor prognosis. Awareness of such tumor and a timely diagnosis using EUS can result in improved outcomes after surgical treatment.Figure: CT scan images show pre-pyloric non-obstructing mass measuring 3x3 cm.Figure: EGD (upper left) shows pre-pyloric submucosal non-obstructing mass measuring 3x3 cm. EUS (upper right) shows a well-defined round mass arising from the muscularis propria measuring 4x4 cm. EUS-guided fine needle core biopsy (lower left) shows a monotonous population of uniform appearing cells with immunostaining (lower right) showing synaptophysin positivity which is expected in neuroendocrine tumors.

Endoscopic Treatment of Colonic Duplication Cyst

Introduction: Colonic duplication cyst is a rare congenital abnormality commonly presenting before age of 2 years. We here present a case of endoscopic ultrasound (EUS) guided diagnosis and treatment of colonic duplication cyst. Case report: A 42-year-old African-American female underwent colonoscopy for evaluation of constipation. She denied any associated history of anorexia, weight loss or hematochezia. Her colonoscopy showed a large submucosal lesion at the hepatic flexure. The lesion was tattooed by India ink and the patient was referred to advance endoscopist for further evaluation. Meanwhile her CT scan of abdomen with contrast was done which was showed a small cystic lesion around splenic flexure. On repeat Colonoscopy with endoscopic ultrasound (EUS), a tattooed subepithelial lesion was seen in the hepatic flexure (Figure 1). On EUS, a 14 mm anechoic lesion lined by mucosa consistent with duplication cyst was seen (Figure 2). The mucosa was then snared exposing the cyst (Figure 3). The patient was discharged home with outpatient follow-up. Pathologic evaluation showed normal colonic mucosa without any dysplastic changes.Figure: Intraluminal mass at hepatic flexure (A) and transparent appearance (B).Figure. 12: MHz EUS images showing subepithelial anechoic lesion lined by mucosa.Figure: Fluid drainage after unroofing the cyst cavity (A) and flattening of lesion after drainage (B).Discussion: Enteric duplication cysts are rare entity encountered in pediatric age group and extremely rare in adults. Most common site of enteric duplication cyst is Ileum followed by ileocecal valve with colonic duplication cyst comprising only 6.8% in one case series. These cysts commonly occur on the mesenteric side of bowel and share a common blood supply with native bowel. The clinical presentation varies in patients ranging from abdominal pain, volvulus, intussusception, ischemic bowel, obstruction, and constipation. CT scan and US abdomen are helpful in making the diagnosis of duplication cyst. US may reveal fluid filled complex cyst with internal echoes. They are also characterized by typical inner echogenic mucosa and outer hypoechoic muscle layer. Cases of malignant transformation have rarely been reported in literature including one case of the metastatic disease. Surgical resection is classically being done for the cyst as they are found incidentally or intraoperatively. Effective drainage was established by hot snare resulting in resolution of patient's symptoms. Duodenal duplication cysts have been effectively drained and treated endoscopically commonly using needle knife papillotomy with good reported long-term outcomes. This case is the first reported case of EUS guided drainage of colonic duplication cyst.

Zollinger-Ellison Syndrome Presenting as Esophageal Rupture

Zollinger-Ellison syndrome (ZES) is caused by a gastrin-secreting neuroendocrine tumor and classically presents with distal duodenal ulcers, severe esophagitis, epigastric pain and diarrhea. ZES is a rare disorder with incidence of 1-3 cases per million. Here we discuss a case of ZES presenting with Boerhaave syndrome, illustrating the importance of early clinical suspicion and prompt diagnosis in order to prevent ZES complications. A 50-year-old diabetic woman was admitted for intractable abdominal pain and vomiting after having intermittent symptoms for over a year. Twenty-four hours after admission she developed sudden hypoxia after emesis. CT chest showed bilateral hydropneumothorax and mediastinal free air. Urgent EGD revealed severe circumferential ulcerative esophagitis with perforation 1-2cm above GE junction, multiple distal duodenal ulcers, and a small submucosal lesion in the duodenal bulb. A partially covered esophageal metal stent was deployed sealing the perforation, and the patient underwent chest tube placement and laparoscopic mediastinal wash-out. Her hospital course was complicated by severe bleeding from a distal duodenal ulcer requiring endoscopic therapy for hemostasis. Four weeks post placement, her embedded partially covered stent was removed using “stent-in-stent” technique (1 week of fully covered esophageal metal stenting inside the partially covered stent). Leak closure was confirmed radiographically. Work up for ZES was initiated with a fasting gastrin level, off of PPIs, of 784 and an Octreoscan revealing abnormal uptake in the duodenal bulb. After evaluation by bariatric surgery, she underwent D2 Gastrectomy. The final pathology returned positive for a low-grade gastrinoma with 1 of 15 lymph nodes positive for metastatic disease. Her nutrition was optimized, her symptoms improved and was discharged with close follow-up. Esophageal perforation is a late manifestation of unrecognized ZES and is described in only a handful of cases. Other esophageal manifestations, such as heartburn and esophagitis, are seen in up to 45% of patients while strictures are found in 4-10%. Given the non-specific symptoms of ZES, prompt diagnosis is often difficult. Patients with intractable symptoms, severe esophagitis and multiple distal duodenal ulcers, should raise clinical suspicion for ZES followed by expedited workup in order to prevent many of the complications seen in our patient.Figure: Gastrinoma, endoscopic view.Figure: Esophageal perforation.Figure: Stent-in-stent.

Sessile Serrated Adenoma of the Appendix in an Asymptomatic Patient

A 63 year-old Hispanic male with history of hypertension and nephrolithiasis presented for an averagerisk colorectal cancer screening colonoscopy. During the study he was found with a large, raised submucosal lesion in cecum, specifically arising at the appendiceal orifice with a “volcano sign” appearance as seen in mucocele of the appendix (Image 1). Epithelial biopsy of this lesion was taken and reported a serrated adenomatous tissue. An abdominopelvic CT described a distended appendix with intraluminal fluid density. Occluding its orifice, there was a polypoid density measuring 2.0 cm x 2.3 cm x 1.7 cm with Hounsfield units compatible with soft tissue density (Image 2). There was no adjacent lymphadenopathy or focal inflammatory changes. An appendiceal mucocele as well as an obstructing adenocarcinoma were considered in the differential diagnosis. The patient underwent a laparoscopic right hemicolectomy. Pathology report confirmed a vermiform appendix with a sessile serrated adenoma occupying the entire length of the appendix, unremarkable margins of excision and lymph nodes (Image 3). Sessile serrated adenomas are a relatively recent described entity most commonly occurring in the right colon and rarely in the appendix. The term serrated adenomas originate from its histological findings of adenomas with saw tooth-like dysplastic epithelium found in more than 50% of basal crypts. It has been recognized that these lesions portraits microsatellites instability, which is a molecular pathway different from conventional adenomas and a risk factor for colorectal cancer. From 20 to 30% of colorectal cancers arise through the serrated polyp pathway. In the first small case series reported by Rubio in 2004, most serrated and villous adenomas of the appendix were diagnosed as incidental findings during appendectomy and autopsy, and appeared to be highly aggressive lesions in comparison to those arising from the colorectum. Except for rare case reports and a few case series, the true incidence of appendiceal serrated polyps is unknown. This case report describes a sessile serrated adenoma located in the appendix diagnosed by a screening colonoscopy and successfully treated by surgical resection.Figure: Endoscopic findings of a raised submucosal lesion arising at appendiceal orifice.Figure: The appendix is distended by intraluminal fluid density. No periappendiceal inflammatory changes. Occluding its orifice, there is a polypoid density which measures approximate 2 cm transversely x 2.3 cm AP x approximately 1.7 cm vertically. It shows Hounsfield unit measurements compatible with soft tissue density. No adjacent significant lymphadenopathy noted.Figure: The sections of the appendix in H&E stain show serrated mucosa throughout the appendix with irregular crypt branching, dilation and serration of crypt bases. These changes are limited to the mucosa with no invasion into the submucosa.

Clinical value of endoscopic ultrasonography for esophageal leiomyoma in elder patients.

It's hard for conventional endoscopy to make a distinction between esophageal leiomyoma and submucosal lesions. The clinical features of elder patients with esophageal leiomyoma may be different with non-elder ones. This study examined the clinical value of endoscopic ultrasonography (EUS) in patients with esophageal leiomyoma, conclude the clinical characteristics of them, especially elder ones. During 2005-2015, 2,134 patients were diagnosed with esophageal leiomyoma by EUS, there are 249 elder patients (65 years and older) and 1,885 non-elder patients (under 65 years). We analyzed the clinical features, auxiliary examinations features, treatment outcomes and follow-up results of these patients, especially elder ones. EUS were well tolerable in elder and non-elder patients. There was no difference in number, location, origin, size of lesions and in symptoms related esophageal leiomyoma between two groups. Elder patients had more positive changes in serological examinations. Preoperative diagnostic accuracy of EUS for esophageal leiomyoma was obviously superior to conventional endoscopy and computed tomography (CT). The misdiagnosis rate of malignant tumors was higher in elder ones. Fewer elder patients chose to be treated. Elder patients had higher complication incidence and hospitalization rate. During follow-up, most lesions showed no changes in patients without treatment, no recurrence in patients received treatments. Esophageal leiomyoma progresses slowly and has a benign course. EUS is of great value in patients with esophageal leiomyoma. The diagnosis and treatment of elder patients with esophageal leiomyoma are different with non-elder ones, and EUS can provide scientific and reasonable methods to manage elder patients.

Contrast-enhanced harmonic endoscopic ultrasonography for differential diagnosis of submucosal tumors of the upper gastrointestinal tract.

The study aims to evaluate contrast-enhanced harmonic endoscopic ultrasonography (CH-EUS) for the differential diagnosis of submucosal tumors (SMT) of the upper gastrointestinal tract. Between June 2008 and May 2015, 157 consecutive patients with submucosal lesions of the upper gastrointestinal tract were evaluated by CH-EUS. This was a single-center retrospective analysis of prospectively collected data in a registry. The data from 73 patients who later underwent surgical resection were analyzed in this study. Surgical specimens served as the final diagnoses. The two CH-EUS variables of blood flow (hyper-enhancement vs hypo-enhancement) and homogeneity of enhancement pattern were evaluated. The final diagnoses were 58 gastrointestinal stromal tumors (GISTs) and 15 benign SMTs (two lipomas, five leiomyomas, five schwannomas, two glomus tumors, and one ectopic pancreas). On CH-EUS, 49 of 58 (84.5%) GISTs presented with hyper-enhancement, whereas 4 of 15 (26.7%) benign SMTs showed hyper-enhancement; 21 of 58 (36.2%) GISTs showed inhomogeneous contrast enhancement, while only 2 of 15 (13.3%) benign SMTs demonstrated inhomogeneous contrast enhancement. If hyper-enhancement was considered to indicate GISTs, the sensitivity, specificity, and accuracy were 84.5%, 73.3%, and 82.2%, respectively. If inhomogeneous enhancement was considered to indicate GISTs, the sensitivity, specificity, and accuracy were 36.2%, 86.7%, and 46.6%, respectively. In lesions of less than 2cm, hyper-enhancement was a more sensitive indicator of GISTs than inhomogeneous enhancement. Hyper-enhancement and inhomogeneous enhancement were found to be a characteristic of GISTs. CH-EUS was useful for discrimination of benign SMTs from GISTs.

Endoscopic resection of gastric gastrointestinal stromal tumors originating from the muscularis propria layer in North America: methods and feasibility data.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. In recent years, endoscopic procedures such as endoscopic enucleation (EN) and endoscopic full-thickness resection (EFTR) have been used to resect GISTs. This study aimed to investigate the clinical efficacy, safety, and feasibility of endoscopic resection of GISTs in a North American population. A total of 25 patients with gastric submucosal lesions (SML) underwent endoscopic resection from December 2014 to April 2016. Data from cases with histologically proven GISTs originating from the muscularis propria layer (MP-GIST) were collected. The main outcome measures were complete resection rate, operative time, postoperative complications, length of hospital stay, narcotic analgesic requirement, and follow-up outcomes. Surveillance was performed with CT abdomen, and/or EGD along with oncology follow-up at 6- to 24-month intervals. Out of 25 gastric SML, there were 12 histologically proven MP-GIST. Five endophytic MP-GIST were removed by EN, and seven exophytic MP-GIST were removed by EFTR. All lesions were removed en bloc except for one hard to localize exophytic lesion which was completely removed piecemeal. The mean removal time was 79.7min (range 17-180min). Nine out of twelve patients required inpatient admission for observation with a mean length of stay of 2.08days (range 1-4days). No complications were noted and no narcotic analgesics were required. Pathology reports showed that one GIST was intermediate risk but all others were low-risk lesions. No recurrence has been noted thus far. Endoscopic removal of MP-GIST by a trained endoscopist appears to be safe and feasible in North American population. Further studies with greater sample size are necessary to compare endoscopic versus surgical resection of MP-GIST. Comparison of outcomes may support wider use of endoscopic techniques for GIST removal.

One center experience of pneumatosis cystoides intestinalis

Introduction Pneumatosis cystoides intestinalis (PCI) is rare benign condition, in which gas is found in linear or cystic form in the subserosa or submucosa. The subserous cysts are most frequently found in the small bowel while the submucous localizations are predominantly seen in the colonic wall. Peritoneal pneumatosis, abdominal gas cysts, cystic lymphopneumatosis, intestinal emphysema or intestinal gas cysts are terms used to describe the occurrence of multiple, gas-filled cysts, of the gastrointestinal tract. Incidence of PCI was reported to be 0.03% in the general population. It is radiographic finding and not diagnosis, as the etiology varies from benign conditions to fulminant gastrointestinal disease. Case description A 77-year-old patient was admitted in Pauls Stradins Clinical University Hospital with complains of abdominal discomfort and bloating during two years. Blood laboratory tests revealed no changes in the blood count, CRP (C reactive protein) was 77.6mg/l (N c.sigmoideum, c.descendens submucosal lesion in 10-15cm zone with submucous cystic formations, visually reminiscent of a bunch of grapes, which are connected to each other, filled with whitish, in some areas bluish content, with unchanged superficial mucosae. Results Since 2011, lesion was increased in size of 5cm. Endoscopic ultrasound showed formation of submucosal anehogenic mass; 11-17mm thick, blurring, palpable densely, minimally vascularized with no signs of malignancy. A computer tomography (CT) scan of the abdomen and pelvic area, and retroperitoneal space revealed infiltrative mass in the wall of the c.sigmoideum. Colonoscopy was performed for tumor location, followed by laparoscopic resection of the tumor mass. Morphological examination of full specimen revealed pneumatosis cystoides intestinalis in size of 11.5x5.6x4cm, with multicore foreign body type gigantic cells on the inner surface of the cysts, and no signs of malignancy. Take-home message Our case, pneumatosis cystoides intestinalisis is rare disease, which is difficult to diagnose by radiology or endoscopy, even for exclusion of malignancy. PCI is an indication for surgery if the lesion is growing in size and may cause the symptoms of colon obstruction.

A case report of prostate cancer metastasis to the stomach resembling undifferentiated-type early gastric cancer

BackgroundOccurrence of metastatic cancer to the stomach is rare, particularly in patients with prostate cancer. Gastric metastasis generally presents as a solitary and submucosal lesion with a central depression.Case presentationWe describe a case of gastric metastasis arising from prostate cancer, which is almost indistinguishable from the undifferentiated-type gastric cancer. A definitive diagnosis was not made until endoscopic resection. On performing both conventional and magnifying endoscopies, the lesion appeared to be slightly depressed and discolored area and it could not be distinguished from undifferentiated early gastric cancer. Biopsy from the lesion was negative for immunohistochemical staining of prostate-specific antigen, a sensitive and specific marker for prostate cancer. Thus, false initial diagnosis of an early primary gastric cancer was made and endoscopic submucosal dissection was performed. Pathological findings from the resected specimen aroused suspicion of a metastatic lesion. Consequently, immunostaining was performed. The lesion was positive for prostate-specific acid phosphatase and negative for prostate-specific antigen, cytokeratin 7, and cytokeratin 20. Accordingly, the final diagnosis was a metastatic gastric lesion originating from prostate cancer.ConclusionIn this patient, the definitive diagnosis as a metastatic lesion was difficult due to its unusual endoscopic appearance and the negative stain for prostate-specific antigen. We postulate that both of these are consequences of hormonal therapy against prostate cancer.

Efficacy of endoscopic ultrasound-guided fine-needle aspiration and core needle biopsy in the diagnosis of upper gastrointestinal submucosal lesions

Endoscopic ultrasonographically guided fine-needle aspiration (EUS-FNA) has been increasingly utilized to evaluate submucosal lesions of the upper gastrointestinal (UGI) tract. Our study aims to determine the efficacy of UGI EUS-FNA/core needle biopsy (CNB), including the frequency and cytomorphologic features of encountered submucosal lesions, and to investigate contributing factors including the role of rapid on-site evaluation (ROSE). We analyzed all UGI submucosal lesions diagnosed at our institution by EUS-FNA/CNB from September 2008 through August2015. During this 8-year study period, 94 patients underwent 110 UGI EUS-FNA/CNB, including 89 (81%) gastric, 11 (10%) duodenal, and 10 (9%) esophageal lesions. Twenty-seven (25%) were gastrointestinal stromal tumors (GISTs), followed by 13 (12%) leiomyomas, 5 (5%) schwannomas, 4 (4%) gastric adenocarcinomas, 3 (3%) neuroendocrine tumors (NETs), and 3 (3%) pancreatic heterotopias. All GISTs, leiomyomas, and NETs were ultimately diagnosed by EUS biopsies, as well as 75% of adenocarcinomas, 60% of schwannomas, and 33% of pancreatic heterotopias. The specificity of EUS-FNA/CNB for these 6 most commonly encountered lesions was 100%, with sensitivity of 82%. Sensitivity was 100% for esophageal and duodenal biopsies, and 80% and 75% for gastric and gastroesophageal procedures, respectively. Factors that contributed to poor yield included the lack of ROSE, small lesional size, lesion location and histology, and needle type. Neither number of needle passes nor operator experience appeared to influence specimen adequacy. EUS-FNA/CNB is an effective modality for diagnosing UGI submucosal lesions. Awareness of potential errors due to sampling of the bowel wall, lesional cystic degeneration, as well as pancreatic heterotopia and Brunner gland hamartoma is essential in order to avoid false diagnoses.

“LOW-FAT” MYXOID SPINDLE CELL LIPOMA MIMICKING A MYXOMATOUS LESION: CASE REPORT AND IMMUNOHISTOCHEMICAL ANALYSIS

Spindle cell lipoma (SCL) and pleomorphic lipoma (PL) constitute a spectrum of lipomatous lesions with distinctive clinicopathologic features. Multiple variants of SCL/PL have been reported including fibrous, plexiform, vascular, pseudoangiomatous, low-fat/fat-free, and myxoid changes. Herein we present a case of a 1 cm submucosal nodular lesion excised from the buccal mucosa of a 55-year-old female patient with classic histopathologic and immunohistochemical features of “low-fat” SCL with prominent myxoid stroma that initially suggested soft-tissue myxomatous lesion other than SCL. The current case exhibited microscopically few adipocytes supported by exuberant myxoid stroma. Immunohistochemistry was positive for CD34, vimentin, CD10 (on the spindle cells and myxoid component), as well as for S100 (on adipocytes). The Ki-67 was <1%. Pan-cytokeratin (AE1/AE3), desmin, a-SMA, EMA, bcl-2, p53 and remarkably retinoblastoma protein (pRb), were negative. “Low-fat” myxoid SCL bear no significant clinical/prognostic, but they pose a diagnostic challenge to pathologists who may be unfamiliar with this variant.

Rare Case of Cecal Signet Ring Cell Carcinoma with Distal Intramural Spread

In this paper, we report a rare case of cecal Signet ring cell carcinoma (SRCC) with Distal intramural spread (DIS) along with a review of the literature. A 71-year-old woman suffering from vomiting, abdominal pain, and abdominal distension was admitted to a hospital and was suspected to have ileus. She was transferred to our hospital and diagnosed with cecal cancer with intestinal obstruction. Laparotomy was performed, after which she was diagnosed with cecal SRCC by histopathological examination. A submucosal lesion was located 55 mm from the distal side of the main tumor. This lesion was also diagnosed as SRCC. It was not exposed to the epithelium or the serous membrane. The submucosal tumor was diagnosed as DIS of cecal SRCC. After the operation, she underwent chemotherapy with FOLFIRI+Cet (5-fluorouracil, leucovorin, and irinotecan plus cetuximab). At a follow-up examination nine months after surgery, she was found to be doing well.