Isolated colonic neurofibroma, a rare tumor: A case report and review of literature  

作　　者：Sara Ghoneim Sonia Sandhu Dalbir Sandhu 

机构地区：[1]Department of Internal Medicine,Case Western Reserve University at MetroHealth Medical Center,Cleveland,OH 44109,United States [2]Department of Hematology and Oncology,Cleveland Clinic Akron General,Cleveland,OH 44307,United States [3]Division of Gastroenterology,Case Western Reserve University at MetroHealth Medical Center,Cleveland,OH 44109,United States

出　　处：《World Journal of Clinical Cases》2020年第10期1932-1938,共7页世界临床病例杂志

摘　　要：BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity.Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy.CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm×1.4 cm lesion in the colon.Tissue biopsy revealed a spindle cell tumor.Magnetic resonance imaging of the pelvis was negative for adenopathy.He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm×15.2 cm in the submucosa with no communication with muscularis mucosa or propria.Immunohistochemistry staining of the tumor was strongly positive for S100,with rare penetrating axons deep within the tumor.Tumor cells were negative for c-kit and desmin and had low Ki-67 index.These findings were consistent with a solitary colonic submucosal neurofibroma.A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis.He underwent transanal surgical resection of the tumor.The patient tolerated the procedure well without any complications.CONCLUSION While neurofibromas have been well described in literature,an isolated colonic neurofibroma is a rare pathological entity.Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes.We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.

关 键 词：NEUROFIBROMA COLONOSCOPY Neurofibromatosis type 1 Neurofibromatosis type 2 Spindle cell tumor Endoscopic ultrasound Case report 

分 类 号：R735.35[医药卫生—肿瘤]