Coexistence of Juvenile-Like Polyp with Neurofibroma at the Gastroesophageal Junction in an Adult with Neurofibromatosis Type I

Abstract EN

A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection.

Histological examination revealed two different lesions within the nodule.

The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma.

Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature.

Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients.

An inflammatory polyp associated with a neurofibroma has only been described once in the pediatric literature but never in an adult.

Our case is unique from those previously described in the literature due to the age of the patient, the presence of 2 histologically separate lesions in one endoscopically evident lesion, and the presence of obliterative vasculopathy in the juvenile-like polyp.