Mucosal Schwann cell hamartoma of the gastroesophageal junction: A series of 6 cases and comparison with colorectal counterpart

Li, Yuan; Beizai, Pouneh; Russell, John Wellesley; Westbrook, Lindsey; Nowain, Arash; Wang, Hanlin L.

doi:10.1016/j.anndiagpath.2020.151531

Cited by 11 publications

(23 citation statements)

References 21 publications

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“…There are only 3 other reports of non-polypoid MSCH. The first presented as many small whitish nodules somewhat similar to lesions found in our case, the second discovered incidentally on random biopsy conducted for evaluation of chronic diarrhea, and the third was located at the mass base following endoscopic mucosal resection [2,8]. It is also interesting to note that a hyperplastic polyp was observed on top of a MSCH in our case, which has never been reported.…”

Section: Discussionsupporting

confidence: 70%

“…Gibson et al [1] first reported 26 cases of MSCH presenting as sessile polyps 1-6 mm in diameter, most of which were asymptomatic. Subsequent reports were limited to single cases until Li et al [2] reported 48 MSCH cases of the colon as well as 6 MSCH cases of the gastroesophageal junction. The authors also summarized the 85 reported cases of MSCH in the English literature.…”

Section: Discussionmentioning

confidence: 99%

“…They arise most commonly in the distal colon and are generally asymptomatic small, single sessile polyps which may be discovered incidentally on screening colonoscopy [1]. MSCH has also been reported in the gastroesophageal junction [2], gastric antrum [3], and gallbladder [4].…”

Section: Introductionmentioning

confidence: 99%

“…The differential diagnosis of neurogenic tumors in the colon includes mucosal neuroma which is associated with multiple endocrine neoplasia type 2B (MEN 2B), neurofibroma which is associated with neurofibromatosis type 1 (NF1), schwannoma, ganglioneuroma, intramucosal perineuroma, and mucosal benign epithelioid nerve sheath tumor [1,2]. MSCH can be distinguished histologically, by proliferation of uniform spindle cells with unclear cell borders and dense eosinophilic cytoplasm and elongated nuclei in the lamina propria which entrap colonic crypts, and on immunohistochemistry, with Schwann cells positive for S-100 protein, generally negative for neurofilament protein (NFP), and negative for other stains including CD34, smooth muscle actin, and epithelial membrane antigen [1,2,5,6].…”

Section: Introductionmentioning

confidence: 99%

“…While there are currently over 80 reports of colorectal MSCH in the English literature, reports of non-polypoid MSCH and of multiple MSCH are scarce [2,7]. Furthermore, endoscopic findings in MSCH have not been reported in detail, as most authors have focused on its pathological aspects.…”

Section: Introductionmentioning

confidence: 99%

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Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report

2021

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Background Mucosal Schwann cell hamartomas are rare neurogenic tumors which present most commonly in the distal colon. They are usually discovered as small, single polyps in asymptomatic patients. Case presentation An asymptomatic 64-year-old man was referred to us after a 12 mm subepithelial lesion was discovered incidentally on screening colonoscopy. Follow-up colonoscopy conducted 2 months later revealed that the tumor had disappeared, leaving multiple edematous, submucosal tumor-like elevations presenting as skip lesions throughout the sigmoid colon. Lesions had elongated pits on magnifying endoscopy and were limited to the first layer on endoscopic ultrasound. Biopsies revealed unclearly delineated foci of spindle-shaped cells limited to the lamina propria. On immunohistochemistry, all lesions were positive for S-100 protein and negative for CD34, CD56, and neurofilament protein. The patient was diagnosed with multiple mucosal Schwann cell hamartomas of the sigmoid colon. He remains asymptomatic after 18 months of follow-up, but the lesions have also remained unchanged. Conclusion We report a case of multiple non-polypoid mucosal Schwann cell hamartomas. Endoscopic findings may assist in the differential diagnosis, particularly when presenting as non-polypoid, submucosal tumor-like lesions.

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Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report

2021

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Intraspinal choristoma in the lumbar region: A case report

Yang¹,

Liang²,

Wang³

et al. 2022

Medicine

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Rationale: Intraspinal choristoma is a relatively uncommon intervertebral canal tumor. Prior to our reports, only 2 cases of intraspinal choristoma had been reported. Because this disease is not common and looks like a mass of fatty tissue on the magnetic resonance imaging (MRI), intraspinal choristoma can be easily misdiagnosed as teratomas or lipomas (like the case of this article presenting) without a pathology report. So if a lumber intraspinal lesion is discovered in a clinical examination, intraspinal choristoma should be considered as a differential diagnosis. We present a case of intraspinal choristoma that is unlike any other reported case. Patient concerns: A 35-year-old woman with left lower extremity hypoesthesia and burning-like pain in the lumbar region for 1 month visited the local hospital for plain lumbar spine MRI. The patient was diagnosed with a lumbar space-occupying lesion. A second plain lumbar spine MRI scan and a MRI scan with enhancement were performed in our hospital to confirm the presence of a congenital lipoma in the spinal canal. A postoperative biopsy of the lumbar spinal mass indicated that the mass was an intraspinal choristoma located in the spinal canal. Diagnosis: Intraspinal choristoma. Intervention: The lesion was surgically removed, and follow-up plain and enhanced MRI images of the patient’s lumbar spine were obtained. Outcomes: After surgery, the patient no longer experienced the burning pain in her lumbar region or the left lower extremity hypoesthesia when the patient was discharged. And there was no evidence of recurrence 2 years after the surgery. Lessons: The MRI presentation of intraspinal choristoma is similar to intraspinal lipoma. Therefore, a pathological assessment is critical to provide an accurate diagnosis.

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Mesenchymal Tumors of the Tubular Gastrointestinal Tract (Non-GIST): The GI Pathologist’s Approach

P. Kővári,

Lauwers

2024

Advances in Anatomic Pathology

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Mesenchymal neoplasms of the gastrointestinal tract are rare compared with epithelial lesions. However, over the past few decades, the increasing volume of gastrointestinal endoscopy has expedited the recognition of several novel entities with varying clinical significance. Its spectrum extends from reactive changes and benign neoplasms to highly aggressive sarcomas. At the malignant end of the spectrum, the importance of correctly diagnosing these tumors is underscored by the specific therapeutic implications available for some tumor types (eg, tyrosine kinase inhibitors for gastrointestinal stromal tumors) that allow personalized treatments. Benign lesions frequently surface among routine polypectomy specimens, sometimes offering diagnostic challenges. However, precise classification is the only way to avoid prognostic uncertainty and overtreatment, and to recognize possible syndromic associations. Hereby, we offer a pragmatic review of the topic from the gastrointestinal pathologist’s perspective, who, although more accustomed to epithelial neoplasms, can use an algorithmic approach to diagnose mesenchymal entities successfully.

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Mucosal Schwann cell hamartoma of the gastroesophageal junction: A series of 6 cases and comparison with colorectal counterpart

Cited by 11 publications

References 21 publications

Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report

Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report

Intraspinal choristoma in the lumbar region: A case report

Mesenchymal Tumors of the Tubular Gastrointestinal Tract (Non-GIST): The GI Pathologist’s Approach

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