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

Abstract

HighlightsAppendiceal 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.

Appendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report

“…However, given the bacterial growth in the perihepatic fluid, the intra-abdominal infectious process was thought to be the cause of her symptoms and the patient was treated medically. Consistent with the other reported cases [ 7 , 9–11 ], continued clinical vigilance and resultant exploratory laparoscopy with appendectomy were critical in ruling out malignancy, addressing further symptoms and preventing future malignant transformation. This case highlights the importance of including appendiceal neurofibromas in the differential diagnoses of abdominal pain in patients with NF1, even if another plausible explanation is present.…”

“…The risk of malignancy in NF1 patients has been shown to be nearly three times higher than that of the general population [ 6 ]. Moreover, while most neurofibromas themselves are benign, 8–12% undergo malignant transformation [ 7 ].…”

“…Most frequently affected are the small intestine, retroperitoneum and colon [ 8 ]. Appendiceal neurofibromas are exceedingly rare, with only 11 cases reported in the literature to our knowledge [ 7 , 9–11 ]. Most of these patients presented with abdominal pain and were thought to have appendicitis.…”

“…Most of these patients presented with abdominal pain and were thought to have appendicitis. Some initially were treated medically, but all ultimately had surgical resection [ 7 , 9–11 ]. Here, we present the case of a patient with appendiceal neurofibroma.…”

A rare case of adult ileo-colic intussusception: Hamartomatous polyp as a lead point with concurrent appendiceal neurofibroma in Neurofibromatosis Type 1

“…NF1 is a rare autosomal dominant hereditary condition with the most common presentations being cutaneous lesions including neurofibromas, café-au-lait lesions, axillary and inguinal freckling and Lisch nodules [12] . Gastrointestinal manifestations of NF1 are found in 5% to 25% of patients, most of which are neurofibroma and neuroendocrine tumours [13] . Gastrointestinal Juvenile-like inflammatory/hyperplastic mucosal polyps (JLIHMPs) have been proposed as a specific gastrointestinal manifestation associated with NF1 [14] .…”