Synchronous mucosal Schwann-cell hamartomas in a young adult suggestive of mucosal Schwann-cell harmatomatosis: a case report

BMC Gastroenterology

Gyeong Hoon Kang²  Sang Ah Lim³  Junhun Cho¹  Joon Young Lee³  Jeong Mo Bae² 

[1]Department of Pathology, The Armed Forces Capital Hospital, 81, Saemaeul-ro 177beon-gil, Bundang-gu, Seongnam-si 463-040, Gyeonggi-do, South Korea

[2]Department of Pathology, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul 110-744, South Korea

[3]Department of Internal Medicine, Korea University College of Medicine, Seoul, South Korea

关键词: Ganglioneuroma;    Colon polyps;    Hamartomas;    Schwann cells;   

Others  :  1234386
DOI  :  10.1186/s12876-015-0349-4

 received in 2014-12-22, accepted in 2015-09-16,  发布年份 2015

【 摘 要 】

Background

Mucosal Schwann-cell hamartoma is a rare mesenchymal polyp that presents in the intestine. Despite lacking ganglion cells, it resembles a gastrointestinal ganglioneuroma.

Case presentation

We report a case of synchronous mucosal Schwann-cell hamartomas in a young male patient, who presented with a single discrete polyp in the mid-rectum and multiple polypoid mucosal lesions in the distal rectum.

Conclusion

To the best of our knowledge, this is the first report of a case of multiple mucosal Schwann-cell hamartomas.

【 授权许可】

   
2015 Kang et al.

【 图 表 】

Fig. 1.

Fig. 2.

【 参考文献 】

• [1]Lieberman DA, Williams JL, Holub JL, Morris CD, Logan JR, Eisen GM, et al.: Colonoscopy utilization and outcomes 2000 to 2011. Gastrointest Endosc 2014, 80(1):133-43.
• [2]Gibson JA, Hornick JL: Mucosal Schwann cell “hamartoma”: clinicopathologic study of 26 neural colorectal polyps distinct from neurofibromas and mucosal neuromas. Am J Surg Pathol 2009, 33(5):781-7.
• [3]Pasquini P, Baiocchini A, Falasca L, Annibali D, Gimbo G, Pace F, et al.: Mucosal Schwann cell “Hamartoma”: a new entity? World J Gastroenterol 2009, 15(18):2287-9.
• [4]de Beca FF, Lopes J, Macoas F, Carneiro F, Lopes JM: Tactoid body features in colon mucosal Schwann cell hamartoma. Int J Surg Pathol 2013, 22(5):438-41.
• [5]Sagami S, Fukumoto A, Amano M, Yamao K, Hashimoto Y, Iiboshi T, et al.: [A case of mucosal Schwann cell hamartoma]. Nihon Shokakibyo Gakkai Zasshi 2012, 109(1):1776-83.
• [6]Rittershaus AC, Appelman HD: Benign gastrointestinal mesenchymal BUMPS: a brief review of some spindle cell polyps with published names. Arch Pathol Lab Med 2011, 135(10):1311-9.
• [7]Bae MN, Lee JE, Bae SM, Kim EY, Kim EO, Jung SH, et al.: Mucosal schwann-cell hamartoma diagnosed by using an endoscopic snare polypectomy. Ann Coloproctol 2013, 29(3):130-4.
• [8]Cangiarella J, Jagirdar J, Adelman H, Budzilovich G, Greco MA: Mucosal neuromas and plexiform neurofibromas: an immunocytochemical study. Pediatr Pathol 1993, 13(3):281-8.
• [9]Carter JE, Laurini JA: Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes. World J Gastroenterol 2008, 14(42):6569-71.
• [10]Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanche H, et al.: NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 2013, 34(11):1510-8.
• [11]Lee MJ, Chung KH, Park JS, Chung H, Jang HC, Kim JW: Multiple endocrine neoplasia type 2B: early diagnosis by multiple mucosal neuroma and its DNA analysis. Annals Dermatol 2010, 22(4):452-5.