Abstract
Most subepithelial tumors of the stomach are found incidentally at upper endoscopy and may arise from any of the layers of the stomach. Subepithelial tumors are evaluated for size, consistency, color, and shape by conventional endoscopy. The most common of these is the gastrointestinal stromal tumor (GIST), which is potentially malignant. GISTs are usually firm and immobile. Carcinoid tumor appears as slightly yellow, sessile, or semipedunculated lesions with normal-appearing overlying mucosa. Lipomas are often yellowish and compress like a pillow with a forceps. Pancreatic rests are often antral and may have a central umbilication. If the cause of the lesion is not evident at conventional endoscopy, it should be evaluated with endoscopic ultrasonography (EUS), which can determine the size and the layer of origin. Histology is the confirmative method to differentiate between the different types of subepithelial lesions.
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Most subepithelial tumors of the stomach are found incidentally at upper endoscopy and may arise from any of the layers of the stomach. Subepithelial tumors are evaluated for size, consistency, color, and shape by conventional endoscopy. The most common of these is the gastrointestinal stromal tumor (GIST), which is potentially malignant. GISTs are usually firm and immobile. Carcinoid tumor appears as slightly yellow, sessile, or semipedunculated lesions with normal-appearing overlying mucosa. Lipomas are often yellowish and compress like a pillow with a forceps. Pancreatic rests are often antral and may have a central umbilication. If the cause of the lesion is not evident at conventional endoscopy, it should be evaluated with endoscopic ultrasonography (EUS), which can determine the size and the layer of origin. Histology is the confirmative method to differentiate between the different types of subepithelial lesions.
9.1 Subepithelial Tumor or Submucosal Tumor
9.1.1 Definition
A subepithelial tumor or submucosal tumor is defined as any intramural growth underneath the mucosa, where etiology cannot readily be determined by luminal diagnostic endoscopy or barium radiography. However, the term “submucosal tumor” is inappropriate because many of these lesions do not arise from the submucosa and many of them are not tumors. Thus, “subepithelial” is a more appropriate term than “submucosal.” It can be classified into benign and malignant (potentially) (Table 9.1).
9.1.2 Clinical Manifestations
Subepithelial tumors are usually asymptomatic and therefore most often discovered as accidental findings during surgery, autopsy, or diagnostic procedures. If symptoms do occur, they are unspecific such as abdominal pain, obstruction, hemorrhage, and intussusception. Like other malignancies, malignant subepithelial tumors may present with systemic symptoms, especially weight loss.
9.1.3 Diagnostic Procedures in Subepithelial Tumors
9.1.3.1 Standard Endoscopy
Due to their lack of overt symptoms, subepithelial tumors are generally discovered accidentally during standard endoscopic examination. Standard endoscopy can assess the location, mucosal appearance, and consistency of the lesion [1]. However, endoscopy cannot provide enough information to definitively determine its nature.
9.1.3.2 Endoscopic Ultrasonography (EUS)
EUS is the most reliable method to evaluate subepithelial tumors. Importantly, it is very accurate in determining if the mucosal “bump” is the result of extrinsic compression. EUS can also clearly distinguish solid from cystic structure within the submucosa. EUS accurately differentiates the layers of the gut wall and can define the layer of origin of the subepithelial tumors [2, 3].
9.1.3.3 Histologic Evaluation
Histology is the confirmative method to differentiate between the different types of subepithelial lesions. Tissues for histologic evaluation can be obtained only through techniques such as endoscopic biopsy, EUS–fine-needle aspiration (FNA), endoscopic mucosal resection (EMR), or surgical resection [4, 5].
9.2 Gastrointestinal Stromal Tumor (GIST)
9.2.1 Definition
GISTs arise from the interstitial cells of Cajal and can be identified using immunohistochemistry staining for expression of CD117, which is also known as the c-kit protein (a cell membrane receptor with tyrosine kinase activity). GISTs are the most commonly identified intramural subepithelial mass in the upper gastrointestinal tract. GISTs are most frequently diagnosed in older individuals, in whom they are most common in the stomach (60–70 %).
9.2.2 Endoscopic Appearance
A GIST commonly appears as a bulge located in the GI tract with normal overlying mucosa and can vary in size from several millimeters to over 30 cm. It usually has a smooth and regular appearance without major mucosal irregularities (Figs. 9.1, 9.2, 9.3, 9.4, 9.5, 9.6, and 9.7). GIST can also be a fast-growing tumor and can quickly outgrow its blood supply. As a result, they can develop a central necrosis or inflammatory lesion. The necrotic areas can fistulize to the gastrointestinal lumen and result in gastrointestinal bleeding [6, 7].
9.2.3 EUS Appearance
EUS examination of the GIST shows a hypoechoic mass with a homogenous echotexture that is usually contiguous with the muscularis propria (fourth EUS layer) (Figs. 9.1, 9.2, 9.3, 9.4, 9.5, 9.6, and 9.7). EUS can differentiate benign from malignant GISTs by examining for the following criteria: diameter greater than 3 cm, irregular outer borders, cystic spaces, echogenic foci (heterogeneous echotexture), and adjacent malignant-appearing lymph nodes.
9.2.4 Prognosis
About 10–30 % of all GISTs display malignant behavior. All GISTs are potentially malignant and thus cannot be classified as benign or malignant. Tumor size and mitotic rate formed the foundation for the NIH 2002 consensus approach to GIST risk stratification, as illustrated in the Table 9.2.
9.3 Other Subepithelial Tumors
9.3.1 Carcinoid Tumor
Carcinoid tumors are neuroendocrine tumors that originate from enterochromaffin-like cells located in the deep mucosa. Gastric carcinoid tumors are subdivided into three categories (Table 9.3). Gastric carcinoids usually have the endoscopic appearance of slightly yellow, sessile, or semipedunculated lesions with normal-appearing overlying mucosa (Figs. 9.8, 9.9, 9.10, 9.11, 9.12, and 9.13). Type I tumors are usually smaller than 1 cm, often multiple, and may appear as polypoid lesions with a small central ulceration. Type III lesions are usually solitary. The surrounding mucosa may be macroscopically normal, especially in type II lesions, or there may be evidence of atrophy (type I) or associated peptic ulcer (type II). Carcinoids appear at EUS as small (most often less than 2 cm in diameter), hypoechoic, well-circumscribed, homogenous lesions developed in the second and third layers.
9.3.2 Glomus Tumor
Glomus tumors are very rare tumors that originate from modified vascular smooth muscle cells. In the gastrointestinal tract, glomus tumors are most commonly found in the stomach (antrum or prepylorus) and present as subepithelial masses that project into the lumen (Fig. 9.14) or out onto the serosa. These tumors are usually small, with median size ranging from 2 to 3 cm, but the tumors that metastasized were 6.5–8.5 cm. These lesions are usually benign, but they have the potential for malignant behavior and may also present with ulceration and hemorrhage. EUS will show a hypoechoic, well-circumscribed mass located in the 3rd and/or 4th EUS layer. Hypoechoic and hyperechoic spots may be seen within the lesion when hemorrhage occurs.
9.3.3 Leiomyoma
Leiomyomas are benign tumors composed of well-differentiated smooth muscle cells. In the stomach, they are usually small and well circumscribed. The tumors appear as rounded submucosal lesions with intact overlying mucosa and feel rubbery when gently palpated with the endoscope (Figs. 9.15, 9.16, 9.17, and 9.18). Growth may be intraluminal, extraluminal, or a combination with a dumbbell shape. Ulceration or bleeding is uncommon. These tumors can range in size from less than 0.5 cm (microleiomyomas) to as large as 30 cm. Most leiomyomas originate from the muscularis propria but occasionally originate from the muscularis mucosa or a vessel wall within the 3rd layer. EUS shows a hypoechoic well-circumscribed homogenous lesion developed in the second or fourth layer (Figs. 9.15, 9.16, 9.17, and 9.18).
9.3.4 Pancreatic Rest (Ectopic Pancreas)
A pancreatic rest or heterotopic pancreatic tissue represents ectopic pancreatic tissue within the wall of the stomach. Pancreatic rests are typically located in the gastric antrum within the submucosal layer.
In endoscopic examination, a pancreatic rest was usually diagnosed as a subepithelial tumor which was firm and slightly irregular. The diameter of lesions varies from 0.2 to 4.0 cm. The mucosa over the lesion may have a central depression or dimpling and ducts may empty into the lumen at this side (Figs. 9.19, 9.20, 9.21, and 9.22).
Pancreatic rests are hypoechoic or intermediate echogenic heterogeneous lesions with indistinct margins (Figs. 9.20 and 9.21). They most commonly arise from the third or fourth layer or a combination of the two layers of the GI tract. Anechoic areas within the lesion correlate with ductal structures.
9.3.5 Lipomas
Gastric lipomas are benign, slow-growing lesions that rarely ulcerate and cause bleeding. Endoscopically, gastric lipomas typically appear as smooth submucosal masses with a yellowish hue when compared with the surrounding tissue (Figs. 9.23, 9.24, and 9.25). On endoscopic examination there are some diagnostic signs which help in identifying these lesions as lipomas. These are “tenting,” “cushion sign,” and the “naked fat” sign. Tenting indicates that the normal mucosa overlying the lipoma is retracted easily away from the mass with a biopsy forceps. Cushion sign indicates a soft, cushioning indentation produced when a forceps is applied to the lipoma. The naked fat sign refers to the exposed adipose tissue on the surface of the lipoma that pokes through the normal overlying mucosa after multiple biopsies of the normal mucosa are performed. The EUS finding of an intensely hyperechoic, well-circumscribed mass arising from the submucosa is essentially diagnostic for a lipoma. With these findings, no further evaluation is needed if there are no related complications.
9.3.6 Granular Cell Tumor
Granular cell tumors are rare submucosal tumors of Schwann cell origin that are usually incidental findings on endoscopy. This tumor is very rare in the stomach and is virtually always less than 2 cm in size. Endoscopically, it is sessile, firm subepithelial lesion and has a yellow or white hue (Fig. 9.26). EUS findings show a homogenous hypoechoic lesion in the submucosa. When the lesion is smaller than 1 cm, it may contain echogenic foci.
9.3.7 Schwannoma
Schwannomas are tumors of neural origin mostly located in the proximal portion of the stomach. These tumors demonstrate S100 protein on immunohistochemistry, but not KIT expression. In standard endoscopy, gastric schwannomas may present as round or oval (multinodular) subepithelial tumors. As they usually and principally involve the submucosa and muscularis propria, endosonographically they appear as homogenous, hypoechoic, small subepithelial mass with distinct borders, arising from the third and/or forth gastric wall layer (Figs. 9.27, 9.28, and 9.29).
9.3.8 Inflammatory Fibrinoid Polyp
Gastric inflammatory fibrinoid polyps are rare benign lesions of the stomach that are characterized histologically by nonencapsulated fibrous tissue. Usually, the lesion is located in the antrum near the pylorus and is usually less than 3 cm in size. They may show surface ulceration. On EUS examination, the polyps are located in the deep mucosa or submucosa without involvement of the muscularis propria. They are typically hypoechoic, with a homogenous echotexture and indistinct margins (Figs. 9.30, 9.31, 9.32, 9.33, and 9.34).
9.3.9 Gastric Varix
Gastric varices may have the appearance of a subepithelial mass or large gastric fold on endoscopy. Endoscopic examination may reveal the presence of portal hypertensive gastropathy, and probing the varices with closed biopsy forceps will reveal a pillow sign. Close examination may reveal a bluish hue seen with venous structures (Figs. 9.35, 9.36, 9.37, 9.38, 9.39, and 9.40). EUS examination may be performed to confirm that the lesion is a varix. Imaging will show a round or tubular anechoic structure located in the submucosa (third layer) that will become serpiginous when moving the transducer. If available, color Doppler examination will demonstrate flow within the structure.
9.3.10 Lymphangioma
Gastric lymphangioma is a rare benign gastric tumor composed of unilocular or multilocular lymphatic spaces. Their inner wall is covered by an epithelial layer, and they are subdivided by irregular septal structures that consist of smooth muscle or connective tissue. Endoscopically, a semitransparent white submucosal tumor is the characteristic finding. They are easily compressible with forceps. On EUS, a homogenous anechoic and lobulated structure with internal septum is seen in the submucosal layer. The EUS pattern is characteristic, allowing easy differentiation from other submucosal lesions (Figs. 9.41, 9.42, 9.43, 9.44, 9.45, and 9.46).
9.3.11 Duplication Cyst
Duplication cysts are benign lesions that result from an error in the embryonic development of the foregut and are primarily seen in the pediatric population. Duplication cysts in adults are often found incidentally and are usually asymptomatic. On endoscopy, duplication cysts can appear as a bulge with normal overlying mucosa or as a diverticulum that can vary in size from several millimeters to over 5 cm. The diagnosis of a gastric duplication cyst can easily be made using EUS, which will show an anechoic, smooth, spherical, or tubular structure with a well-defined wall.
9.4 Extrinsic Compression
Distinguishing whether the lesion is intramural or due to extrinsic compression during endoscopic examination can be facilitated by changing the patient’s position to see if the location and appearance of the mass changes. Also, a change in appearance of the mass with either air insufflation or deflation is helpful in determining if the lesion is due to extrinsic compression. The most common source of extraluminal compression in the stomach is from the spleen and splenic vessels. Other sources of extraluminal compression include normal abdominal structures such as the left lobe of the liver, gallbladder, colon, and pancreas (Figs. 9.47, 9.48, 9.49, 9.50, 9.51, and 9.52). In addition, pathological lesions such as tumors, abscess, pancreatic pseudocysts, renal cysts, and enlarged lymph nodes can appear as gastric subepithelial lesions on endoscopy.
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Chung, IK., Cho, Y.S. (2014). GIST and Other Subepithelial Tumors. In: Chun, H., Yang, SK., Choi, MG. (eds) Clinical Gastrointestinal Endoscopy. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35626-1_9
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