Four cases of patients with gastrointestinal granular cell tumors.
Abstract: We present four cases of gastrointestinal granular cell tumors (GCT) with a literature review. Gastrointestinal granular cell tumors, a benign neural tumor thought to arise from Schwann cells, can occur in several areas, including the gastrointestinal tract. Studies suggest that endoscopic ultrasound and endoscopic removal is the treatment of choice for esophageal GCTs if they are small in size (<2 cm) and do not involve the muscularis propria. GCTs are malignant less than 2% of the time. Although most GCTs are benign and can be followed endoscopically without resection, the malignant potential warrants evaluation with endoscopic ultrasound for possible endoscopic or surgical resection.
Key Words: granular cell tumors, submucosal submucosal /sub·mu·co·sal/ (-mu-ko´sal)
1. pertaining to the submucosa.
2. beneath a mucous membrane. lesions, endoscopic ultrasound, S-100 protein
A 47-year-old black female had an esophagogastroduodenoscopy (EGD Esophagogastroduodenoscopy (EGD)
An imaging test that involves visually examining the lining of the esophagus, stomach, and upper duodenum with a flexible fiberoptic endoscope.
Mentioned in: Bleeding Varices
esophagogastroduodenoscopy. ) performed for complaints of dysphagia that showed a 7 mm nodule nodule: see concretion.
In geology, a rounded mineral concretion that is distinct from, and may be separated from, the formation in which it occurs. in the esophagus at 29 cm. Biopsies revealed granular cell tumor (GCT) with immunohistochemical stain positive for S-100. CT scan of the thorax showed a 21 mm X 21 mm soft tissue mass in the anterior mediastinum. Endoscopic ultrasound (EUS Endoscopic ultrasonography (EUS)
A medical procedure in which sound waves are sent to the stomach wall by an ultrasound probe attached to the end of an endoscope. ) showed a 2.5 cm heterogeneous lesion in the mediastinum mediastinum /me·di·as·ti·num/ (me?de-ah-sti´num) pl. mediasti´na [L.]
1. a median septum or partition.
2. adjacent to and involving the esophagus, consistent with a GCT of the anterior mediastinum involving the esophagus. Fine needle aspirate as·pi·rate
To take in or remove by aspiration.
A substance removed by aspiration.
The removal by suction of a fluid from a body cavity using a needle. (FNA FNA Fine needle aspiration, see there ) of a mediastinal mediastinal /me·di·as·ti·nal/ (-as-ti´n'l) of or pertaining to the mediastinum.
of or pertaining to the mediastinum. lymph node was negative for malignancy. PET scan was negative for malignant disease. The patient was referred for surgical resection of the GCT but elected for conservative management. She has remained stable in subsequent follow-up clinic visits.
A 51-year-old black female who underwent an EGD for GERD GERD gastroesophageal reflux disease.
gastroesophageal reflux disease
GERD was found to have a whitish to yellow 7 mm nodule in the distal esophagus (Fig. 1). EUS showed that the lesion was submucosal and hypoechoic. Forceps biopsy confirmed GCT with a positive stain for S-100 (Fig. 2). The lesion was completely removed and the patient has remained asymptomatic.
A 56-year-old white female undergoing screening colonoscopy showing a 1 cm submucosal-appearing lesion in the transverse colon. No prior EUS was performed. The lesion was completely removed by hot biopsy with histology confirming GCT with a positive stain for S-100. The patient has remained asymptomatic.
A 54-year-old white male underwent EGD to evaluate GERD. EGD showed a 3 X 2 cm smooth nodule in the gastric cardia cardia /car·dia/ (kahr´de-ah)
1. the cardiac opening.
2. the cardiac part of the stomach, surrounding the esophagogastric junction and distinguished by the presence of cardiac glands. with biopsies showing a GCT with positive stain for S-100. No prior EUS was performed. The patient underwent surgical wedge resection of the GCT with at least 1 cm margins. No recurrence was seen on subsequent endoscopies.
The incidence of gastrointestinal submucosal lesions (SML) is about 0.3%. Granular cell tumors (GCTs) are a type of gastrointestinal SML that appear as firm, pale-yellow nodules Nodules
A small mass of tissue in the form of a protuberance or a knot that is solid and can be detected by touch.
Mentioned in: Leprosy usually not greater that 2 cm that originate from the deep mucosa or submucosa submucosa /sub·mu·co·sa/ (sub?mu-ko´sah) areolar tissue situated beneath a mucous membrane.
A layer of loose connective tissue beneath a mucous membrane. . (1,2) GCTs can occur in any organ but are most often seen in the skin, tongue, and subcutaneous tissues of the chest and upper extremities. (3-12) Approximately 1 to 11% of GCTs are found in the GI tract, most commonly in the esophagus and large intestine. (3,7,10,13-16) In one series in Poland, GCTs in the esophagus were found in 0.012% out of 31,674 EGDs over 11 years. (14)
GCTs are usually asymptomatic but have been reported to cause clinical symptoms such as dysphagia, abdominal pain, gastric outlet obstruction gastric outlet obstruction Gastroenterology A manifestation of gastric dysmotility; the rate of gastric emptying is controlled by duodenal receptors for fat or acid Etiology Ulcers, benign or malignant tumors, inflammation–cholecystitis, acute pancreatitis or , or GI tract bleeding. (10,15,16) They occur most commonly in the fourth to sixth decades of life and are twice as common in women compared with men. In one series, two-thirds of patients with GCT were African-American. Primary GCTs may occur in multiple sites at the time of initial presentation in 4 to 16% of patients. (1,7-10,17)
The tumor usually presents as a small nodule or plaque with grayish-white to yellow color endoscopically. (3,8,10,16) In the esophagus, it may resemble an erupting molar tooth. (17,18) The tumor is often associated with mucosal ulceration. (11) Because the lesions are submucosal, endoscopic biopsy achieves a definitive diagnosis in only 50% of cases. (8) On EUS, GCTs usually arise in the second (lamina propria or deep mucosa) or third (deep mucosa) layers of the GI tract, are usually <3 cm, hypoechoic, mildly inhomogeneous Adj. 1. inhomogeneous - not homogeneous
heterogeneous, heterogenous - consisting of elements that are not of the same kind or nature; "the population of the United States is vast and heterogeneous" , and have smooth margins if benign. They are usually slightly more echogenic than leiomyomas. They are most common in the middle and distal esophagus. (3,8,17,19,20)
[FIGURE 1 OMITTED]
On cut section, GCTs are usually pale, yellow-tan or yellow-gray. The cells are of Schwann cell origin, rounded, polygonal or spindled, and have a small/rounded nucleus. (2,3,8-10,16,18) The cytoplasm of the cells is abundant, granular, eosinophilic eosinophilic /eo·sin·o·phil·ic/ (-fil´ik)
1. readily stainable with eosin.
2. pertaining to eosinophils.
3. pertaining to or characterized by eosinophilia. , PAS-positive, and diastase diastase (dī`əstās'): see amylase. resistant. (2) Immunohistochemical analysis is positive for S-100 protein and myelin myelin /my·elin/ (mi´e-lin) the lipid-rich substance of the cell membrane of Schwann cells that coils to form the myelin sheath surrounding the axon of myelinated nerve fibers. proteins but negative for desmin, actin, CD 34 and c-kit. (2,4,21) Neuroectodermal tissue, including nerves and melanocytes Melanocytes
Skin cells derived from the neural crest that produce the protein pigment melanin.
Mentioned in: Malignant Melanoma, Skin Pigmentation Disorders
melanocytes , expresses S-100 protein. (22)
In a series of SMLs, 13% of tumors are malignant and 8% are potentially malignant. (19) Malignancy occurs in 1 to 3% of GCTs. (2,15,18) Characteristics of malignant GCTs are local recurrence, large size (>4 cm), rapid growth, invasion of adjacent organs, and involvement of multiple layers in the GI tract. (7,15) Histologic features of malignant GCTs include necrosis, spindling spin·dling
Spindly. , vesicular vesicular /ve·sic·u·lar/ (ve-sik´u-ler)
1. composed of or relating to small, saclike bodies.
2. pertaining to or made up of vesicles on the skin.
3. nuclei with prominent nucleoli nucleoli
plural form of nucleolus. , high nucleocytoplasmic ratio, cellular pleomorphism pleomorphism /pleo·mor·phism/ (-mor´fizm) the occurrence of various distinct forms by a single organism or within a species.pleomor´phicpleomor´phous
1. , and mitotic figures (>2 mitoses/10 HPF). (2,7,8,11,16) Tumors with three or more of these histologic features are considered malignant and carry an approximately 40% mortality risk. (2) EUS features of malignancy include extraluminal growth pattern, involvement of the muscularis propria, abnormal 5-layer architecture at the margin of the lesion, larger size, irregular borders, inhomogeneous echogenicity, and eroded surfaces. (1,18) Malignant tumors usually recur locally within less than one year after resection before there is metastasis. (2,20) GCTs can cause pseudoepitheliomatous hyperplasia that can be confused with squamous cell carcinoma squamous cell carcinoma
A carcinoma that arises from squamous epithelium and is the most common form of skin cancer. Also called cancroid, epidermoid carcinoma. without adequate biopsies. (3,7)
[FIGURE 2 OMITTED]
GCTs are a subset of gastrointestinal submucosal lesions. Endoscopically, the tumors present as a small nodule or plaque with grayish-white to yellow color that may resemble an erupting molar tooth. (3,8,10,16,17,18,23) Endoscopic biopsy achieves a definitive diagnosis in only 50% of cases. (8) EUS is very helpful in evaluating GCTs to obtain tissue diagnosis and to evaluate for possible resection of the tumor. Malignancy occurs in 1 to 3% of GCTs. (2,15,18) As GCTs as small as 10 mm have been found to be malignant, (18) resection is the recommended treatment. (3,16,23) EUS is recommended before resection within reach of the endoscope in the stomach, duodenum, and colon to ensure that the tumor is suitable for endoscopic removal: <2 cm and not involving the muscularis propria. (1,3,8,14,17,18,23) Recurrence is rare (5-10%) after resection of benign tumors. (2,5,8,15) For colonic GCTs, colonoscopic resection of the GCT and strict endoscopic follow-up is recommended with limited surgical resection for cases in which endoscopic removal is not possible. (6)
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Douglas L. Lowe, MD, Ayaz J. Chaudhary, MD, FACG, Jeffrey R. Lee, MD, Sherman M. Chamberlain, MD, FACG, Robert R. Schade, MD, FACG, and Urias Cuartas-Hoyos, MBBS, FACG
From the Department of Internal Medicine, Section of Gastroenterology/Hepatology, and the Department of Pathology, Medical College of Georgia In 1828, it was chartered by the state of Georgia as the Medical Academy of Georgia, with plans to offer a single course of lectures leading to a bachelor's degree. It opened the following year on October 1st at the Augusta hospital. and Veterans Administration Medical Center, Augusta, GA.
Reprint requests to Dr. Ayaz Chaudhary, The Medical College of Georgia, Section of Gastroenterology/Hepatology, 1120 15th Street, BBR2538, Augusta, GA 30912-3120. Email: firstname.lastname@example.org
Accepted September 22, 2006.
RELATED ARTICLE: Key Points
* Granular cell tumors (GCTs) occur in several areas including the gastrointestinal tract in 1-8% of cases.
* Studies suggest that endoscopic ultrasound and endoscopic removal is the treatment of choice for esophageal GCTs if they are small in size (<2 cm) and do not involve the muscularis propria.
* Although most GCTs are benign and can be followed endoscopically, the malignant potential warrants evaluation with endoscopic ultrasound for possible endoscopic or surgical resection.