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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 lesions, endoscopic ultrasound, S-100 protein

Case Reports

Case 1

A 47-year-old black female had an esophagogastroduodenoscopy (EGD) performed for complaints of dysphagia that showed a 7 mm nodule 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) showed a 2.5 cm heterogeneous lesion in the mediastinum adjacent to and involving the esophagus, consistent with a GCT of the anterior mediastinum involving the esophagus. Fine needle aspirate (FNA) of a mediastinal 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.

Case 2

A 51-year-old black female who underwent an EGD for 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.

Case 3

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.

Case 4

A 54-year-old white male underwent EGD to evaluate GERD. EGD showed a 3 X 2 cm smooth nodule in the gastric cardia 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.

Discussion

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 usually not greater that 2 cm that originate from the deep mucosa or submucosa. (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, 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, 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, PAS-positive, and diastase resistant. (2) Immunohistochemical analysis is positive for S-100 protein and myelin proteins but negative for desmin, actin, CD 34 and c-kit. (2,4,21) Neuroectodermal tissue, including nerves and 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, vesicular nuclei with prominent nucleoli, high nucleocytoplasmic ratio, cellular pleomorphism, 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 without adequate biopsies. (3,7)

[FIGURE 2 OMITTED]

Conclusion

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)

References

1. Kojima T, Takahashi H, Parra-Blanco P, et al. Diagnosis of submucosal tumor of the upper GI tract by endoscopic resection. Gastrointest Endosc 1999;50:516-522.

2. Weiss S, Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. 4th Edition. St Louis, CV Mosby, 2001.

3. Tada S, Iida M, Yao T, et al. Granular cell tumor of the esophagus: endoscopic ultrasonographic demonstration and endoscopic removal. Am J Gastroenterol 1990;85:1507-1511.

4. Bin-Sagheer S, Brady P, Brantley S, et al. Granular cell tumor of the pancreas: presentation with pancreatic duct obstruction. Am J Gastroenterol 2000;95:2564.

5. Okano A, Takakuwa H, Nishio A. Granular cell tumor of the rectum. Gastrointest Endosc 2001;54:624.

6. Rossi GB, de Bellis M, Marone P, et al. Granular cell tumors of the colon: report of a case and review of the literature. J Clin Gastroenterol 2000;30:197-199.

7. Cohen MG, Greenwald ML, Grabus JE, et al. Granular cell tumor-a unique neoplasm of the internal anal sphincter: report of a case. Dis Colon Rectum 2000;43:1444-1446.

8. Palazzo L, Landi B, Cellier C, et al. Endosonographic features of esophageal granular cell tumors. Endoscopy 1997;29:850-853.

9. Melo CR, Melo IS, Schmitt FC, et al. Multicentric granular cell tumor of the colon: report of a patient with 52 tumors. Am J Gastroenterol 1993;88:1785-1787.

10. Joshi A, Chandrasoma P, Kiyabu M. Multiple granular cell tumors of the gastrointestinal tract with subsequent development of esophageal squamous carcinoma. Dig Dis Sci 1992;37:1612-1618.

11. Onoda N, Kobayashi H, Satake K, et al. Granular cell tumor of the duodenum: a case report. Am J Gastoenterol 1998;93:1993-1994.

12. White JG, el-Newihi HM, Hauser CJ. Granular cell tumor of the stomach presenting as gastric outlet obstruction. Am J Gastoenterol 1994;89:2259-2260.

13. Martin R, Stulc J. Multifocal granular cell tumor of the biliary tree: case report and review. Gastrointest Endosc 2000;51:238-240.

14. Orlowska J, Pachlewski J, Gugulski A, et al. A conservative approach to granular cell tumors of the esophagus: four case reports and literature review. Am J Gastroenterol 1993;88:311-315.

15. David O, Jakate S. Multifocal granular cell tumor of the esophagus and proximal stomach with infiltrative pattern: a case report and review of the literature. Arch Pathol Lab Med 1999;123:967-973.

16. White J, El-Newihi H, Hauser C. Granular cell tumor of the stomach presenting as gastric outlet obstruction. Am J Gastoenterol 1994;89:2259-2260.

17. Esaki M, Aoyagi K, Hizawa K. Multiple granular cell tumors of the esophagus removed endoscopically: a case report. Gastrointest Endosc 1998:48;536-539.

18. Shikuwa S, Matsunaga K, Osabe M, et al. Esophageal granular cell tumor treated by endoscopic mucosal resection using a ligating device. Gastrointest Endosc 1998;47:529-532.

19. Polkowski M. Endoscopic ultrasound and endoscopic ultrasound-guided fine-needle biopsy for the diagnosis of malignant submucosal tumors. Endosocpy 2005;37:635-645.

20. Kawamoto K, Yamada Y, Utsunomiya T, et al. Gastrointestinal submucosal tumors: evaluation with endoscopic US. Radiology 1997;205:733-740.

21. Wiech T, Walch A, Werner M. Histopathological classification of nonneoplastic and neoplastic gastrointestinal submucosal lesions. Endoscopy 2005;37:630-634.

22. Vanstapel J, Peeters B, Cordell J, et al. Production of monoclonal antibodies directed against antigenic determinants common to the alpha- and beta-chain of bovine brain S-100 protein. Lab Invest 1985;52:232-238.

23. Yasuda I, Tomita E, Nagura K, et al. Endoscopic removal of granular cell tumors. Gastrointest Endosc 1995;41:163-167.

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 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: achaudha@mail.mcg.edu

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.
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Title Annotation:Case Report
Author:Cuartas-Hoyos, Urias
Publication:Southern Medical Journal
Date:Mar 1, 2007
Words:1910
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