Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. NF1 is a complex disease resulting from a spectrum of mutations that may occur at many locations along the large, complex NF1 gene, which is located on chromosome 17. Mutations of the NF1 gene lead to abnormal tumor suppression. Consequently, patients with NF1 have an increased prevalence of benign and malignant neoplasms throughout the body. There are five categories of NF1 tumors that occur in the abdomen: neurogenic, neuroendocrine, nonneurogenic gastrointestinal mesenchymal, embryonal, and miscellaneous. Many of these tumors are age related, occur at specific anatomic locations, and have unique imaging features. Notably, many patients have a variety of organs affected because there is a high prevalence of multiple tumors occurring in the same patient. Neurofibromas are the most common benign neoplasms and may occur in the retroperitoneum or visceral organs. Malignant peripheral nerve sheath tumor is an aggressive malignancy that is the most common malignant tumor of the abdomen in patients with NF1. Interpreting abdominal imaging studies in patients with NF1 can be challenging because of the wide spectrum and diverse nature of tumors that occur in this disease.

Suburothelial and extrinsic lesions of the urinary bladder: radiologic and pathologic features with emphasis on MR imaging

“…Neurofibromas are benign mesenchymal tumors with nerve sheath differentiation that arise from nerve plexuses, typically near the bladder trigone [21]. Neurofibromas may occur in isolation, but approximately 55% will occur in association with Neurofibromatosis type 1 [10].…”

Gastrointestinal and Retroperitoneal Manifestations of Type 1 Neurofibromatosis

“…25 The association between NF1 and neoplasms may involve the abdominal district. There are five categories of abdominal neoplasms occurring in patients with NF1: neurogenic tumors, neuroendocrine tumors, nonneurogenic gastrointestinal stromal tumors, embryonal tumors, and miscellanea 26 (Table 2).…”

Se méfier des faux semblants…

“…La maladie de Von Recklinghausen ou NF1 est une phacomatose héréditaire autosomique dominante à pénétrance complète caractérisée par une atteinte cutanée (tâches café au lait, lentigines axillaires), neurologique (neurofibromes) et oculaires (nodules de Lisch) [12]. Elle peut atteindre le tube digestif chez 10 à 25 % des patients [13] consistant en cinq types d'atteinte : tumeurs mésenchy-mateuses, neurologiques, neuroendocrines, embryonnaires Adapté de [14].…”

“…Les tumeurs neurologiques regroupent les neurofibromes, les neurofibromes plexiformes ainsi que les tumeurs malignes des gaines nerveuses périphériques [14]. Il s'agit de tumeurs bénignes des gaines nerveuses qui sont, en ce qui concerne les neurofibromes, une lésion caractéristique de la NF1.…”