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      Schwann cell hamartoma: case report

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          Abstract

          Background

          Colorectal polyps of mesenchymal origin represent a small percentage of gastrointestinal (GI) lesions. Nevertheless, they are encountered with increasing frequency since the widespread adoption of colonoscopy screening.

          Case presentation

          We report a case of a small colonic polyp that presented as intramucosal diffuse spindle cell proliferation with a benign cytological appearance, strong and diffuse immunoreactivity for S-100 protein, and pure Schwann cell phenotype. Careful morphological, immunohistochemical and clinical evaluation emphasize the differences from other stromal colonic lesions and distinguish it from schwannoma, a circumscribed benign nerve sheath tumor that rarely arises in the GI tract.

          Conclusion

          As recently proposed, this lesion was finally described as mucosal Schwann cell hamartoma.

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          Most cited references19

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          Colorectal tumours and pit pattern.

          Rafael T Nakajima, S Kudo, H Kusaka … (1994)
          To investigate the morphological and histopathological associations between an individual pit seen on stereomicroscopy or magnifying colonoscopy and an individual crypt seen in histological sections; and to examine these associations in colorectal tumours. Fourteen thousand and twenty three cases were examined by colonoscope at Akita Red Cross Hospital. The surface mucosal pits of the lesions were observed using a magnifying endoscope in vivo and the pits of the extracted specimens were observed in vitro using a stereo microscope. Histological diagnoses were determined by light microscopy: the pit patterns in 100 glands were analysed. Pit pattern was classified into seven principal types: (1) normal round pit; (2) small round pit; (3) small asteroid pit; (4) large asteroid pit; (5) oval pit; (6) gyrus-like pit; and (7) non-pit. There was a correlation between pit pattern and the structure of the underlying crypt or gland. Furthermore, there was an association between pit pattern and the histology of the cells in the gland. Macroscopically, types 3, 4, 5, and 6 were common in protruding lesions. Type 2 was common in depressed lesions. The non-pit pattern was recognised in both. The depressed lesions had invaded the deeper layers more rapidly than protruding lesions. There were associations between individual pits and crypts. The branching carcinoma gland is thought to be the result of malignant transformation of the adenoma gland. The straight carcinoma gland is thought to result from the normal gland becoming malignant. The gland of the small round pit is thought to change from normal to the straight carcinoma gland via malignant transformation.
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            Schwannomas in the colon and rectum: a clinicopathologic and immunohistochemical study of 20 cases.

            Markku Miettinen, Kris M Shekitka, Leslie Sobin (2001)
            Schwannomas of the colon and rectum are uncommon and incompletely characterized tumors, and only a small number of cases have been reported. This study was undertaken to determine the clinicopathologic profile of such tumors. A total of 20 colorectal schwannomas were identified and analyzed in a review of 600 mesenchymal tumors of the colon and rectum from the files of the Armed Forces Institute of Pathology. The schwannomas occurred equally in men (n = 9) and women (n = 11) in a wide age range (18-87 years; median age 65 years). The most common location was cecum (n = 7), followed by sigmoid and rectosigmoid (n = 6), transverse colon (n = 3), descending colon (n = 2), and rectum (n = 1); the location of one tumor had not been specified. The tumors commonly presented as polypoid intraluminal lesions, often with mucosal ulceration. Rectal bleeding, colonic obstruction, and abdominal pain were the most common presenting symptoms. The most common histologic variant (n = 15) was a spindle cell schwannoma with a trabecular pattern and vague or no Verocay bodies. These tumors ranged from 0.5 to 5.5 cm in diameter. A lymphoid cuff with germinal centers typically surrounded these tumors and focal nuclear atypia was often present, but mitotic activity never exceeded 5 per 50 HPF. All four epithelioid schwannomas occurred in the descending colon or sigmoid, three of them as small submucosal tumors. There was one plexiform schwannoma in the sigmoid composed of multiple nodules of prominently palisading schwann cells similar to those seen in conventional soft tissue schwannomas. All tumors studied were strongly positive for S-100 protein and also for low affinity nerve growth factor receptor (p75), collagen IV, and GFAP. Three tumors had CD34-positive cells, but all were negative for CD117 (KIT), neurofilament proteins, smooth muscle actin, and desmin. The percentage of MIB-1-positive cells was usually less than 1% and never higher than 3%. Colorectal schwannomas behaved in a benign fashion with no evidence of aggressive behavior or connection with neurofibromatosis 1 or 2, based on follow-up information on 18 patients.
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              Gastrointestinal stromal tumors and other mesenchymal lesions of the gut.

              Joel K. Greenson (2003)
              In the past 5 years, there has been a paradigm shift in our understanding of gastrointestinal stromal tumors (GISTs). Once thought to be smooth muscle tumors, these uncommon neoplasms are now thought to differentiate along the lines of interstitial cells of Cajal, the pacemaker cells of the gut. Along with this understanding comes an exciting new drug therapy (Gleevec) that for the first time offers real hope to patients with malignant stromal tumors. Overall, approximately 60-70% of stromal tumors are from the stomach, 20-30% are from the small intestine, and <10% come from the esophagus, colon, rectum, omentum, and mesentery. Between 10 and 30% of GISTs are malignant. Stromal tumors should be studied in a site-specific fashion, as tumors from a given location in the gut have unique growth patterns and corresponding behaviors. Although the most important tool needed to diagnose a GIST is still a hematoxylin and eosin-stained section, a confirmatory CD117 stain is recommended (and may be required for drug therapy). True smooth muscle tumors, inflammatory fibroid polyps, fibromatoses, schwannomas, inflammatory myofibroblastic tumors, and solitary fibrous tumors all enter into the differential diagnosis of GISTs. This article reviews the histologic features of these tumors in the context of recent molecular genetic and immunohistochemical advances.
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                Author and article information

                Journal
                Journal ID (nlm-ta): BMC Gastroenterol
                Title: BMC Gastroenterology
                Publisher: BioMed Central
                ISSN (Electronic): 1471-230X
                Publication date Collection: 2011
                Publication date (Electronic): 10 June 2011
                Volume: 11
                Page: 68
                Affiliations
                [1 ]Department of Medicine, Surgery and Dentistry, Division of Pathology, A.O. San Paolo and Fondazione IRCCS Cà-Granda Ospedale Maggiore Policlinico, University of Milan Medical School, Milan, Italy
                [2 ]Department of Clinical Sciences "Luigi Sacco", University of Milan Medical School, Milan, Italy
                [3 ]Azienda Ospedaliera G.Salvini, Garbagnate Milanese, Italy
                Article
                Publisher ID: 1471-230X-11-68
                DOI: 10.1186/1471-230X-11-68
                PMC ID: 3123296
                PubMed ID: 21663626
                SO-VID: ca2036d8-e6ca-4925-86b5-67130dc508f3
                Copyright © Copyright ©2011 Rocco et al; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 22 February 2011
                Date accepted : 10 June 2011
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Gastroenterology & Hepatology
                Keywords: schwann cell,schwannoma,hamartoma,gastrointestinal stromal tumors,colonic polyp
                Data availability:
                ScienceOpen disciplines: Gastroenterology & Hepatology
                Keywords: schwann cell, schwannoma, hamartoma, gastrointestinal stromal tumors, colonic polyp

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