Appendiceal neurofibroma with low-grade appendiceal mucinous neoplasm in neurofibromatosis type 1 patient: A case report. (2018)

• Record Type: Journal Article
• Authors: Komo, Toshiaki; Oishi, Koichi; Kohashi, Toshihiko; Hihara, Jun; Yoshimitsu, Masanori; Tokumoto, Noriaki; Kanou, Mikihiro; Nakashima, Akira; Aoki, Yoshirou; Shimomura, Manabu; Miguchi, Masashi; Funakoshi, Mahito; Mukaida, Hidenori; Kaneko, Mayumi; Matuura, Hiroo; Hirabayashi, Naoki
• Is Part Of: International journal of surgery case reports. Volume 53(2018)
• Page Start: 377
• Page End: 380
• Publication Date: 2018
• Subjects: NF1 neurofibromatosis type 1 -- LAMN low-grade appendiceal mucinous neoplasm -- CT computed tomography -- MPNST malignant peripheral nerve sheath tumor; Neurofibromatosis type 1 -- von Recklinghausen's disease -- Appendiceal neurofibroma -- Low-grade appendiceal mucinous neoplasm; Surgery -- Periodicals; Surgical Procedures, Operative -- Periodicals; Surgery; Electronic journals; Periodicals; 617.005
• DOI: 10.1016/j.ijscr.2018.11.005
• Languages: English
• ISSNs: 2210-2612

Abstract

Highlights: Appendiceal neurofibromas (AN) in Neurofibromatosis type (NF) 1 are rare. AN in NF1 with Low-grade appendiceal mucinous neoplasms (LAMNs) are extremely rare. AN and LAMNs have potential for malignant transformation. Surgical resection is the standard treatment for patients with AN and LAMNs. However, appropriate surgical procedure remains controversial. Abstract: Introduction: Neurofibromas are a characteristic of the autosomal dominant disorder Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease. Appendiceal neurofibromas are extremely rare, and low-grade appendiceal mucinous neoplasms (LAMNs) have not previously been reported in NF1. Presentation of case: A 62-year-old man with NF1 was scheduled for elective surgical treatment of an asymptomatic, enlarged and diffusely thickened appendix that remained after curative antimicrobial treatment of acute appendicitis. Laboratory analysis revealed all normal. Colonoscopy showed thickened appendiceal mucosa projecting into the cecum. A sample of the mucosa was found to be pathologically benign. The patient was preoperatively diagnosed with treated acute appendicitis with chronic appendiceal inflammation versus appendiceal neoplasms. Laparoscopic cecectomy was performed. Multiple neurofibromas were observed in the muscle layer, submucosa, and mucosa of the appendix on histopathological examination. Immunohistochemical examination showed positive staining for S-100. Pathologically, the patient was diagnosed with appendiceal neurofibroma consistent with NF1 with LAMNs. His postoperative course was unremarkable. He was discharged on post-operative day 3 and remained in good health 7 month after surgery. Conclusions: Appendiceal neurofibromas are often preoperatively diagnosed as appendicitis. Appendiceal neurofibromas should be considered in patients with NF1 who are suspected of having appendicitis.