Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature

Abstract

Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.

Keywords: Neurofibromatosis type 1, Multiple rectal neuroendocrine tumors, Vascular malformations, Scoliosis

Core tip: Neurofibromatosis type 1 (NF-1) is commonly complicated with either benign or malignant tumors in both the central and peripheral nervous systems. However, there are rare reported cases of NF-1 associated with multiple rectal neuroendocrine tumors. This study reports a case of a 39 year old female NF-1 patient with not only multiple rectal neuroendocrine neoplasms but also vascular malformations and scoliosis.