Open AccessMesenteric Plexiform Neurofibroma as a Cause of Weight Loss and Chronic Diarrhea in a Patient with YPEL3 Variant
Author(s) -
Gorbounova Irina,
Lenahan Arthur,
Wenger Tara Lynn,
Rudzinski Erin,
Tang Elizabeth RenYee,
Smith Caitlin A.,
Wendel Danielle,
Horslen Simon,
Ambartsumyan Lusine
Publication year - 2021
Publication title -
jpgn reports
Language(s) - English
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000098
Subject(s) - plexiform neurofibroma , neurofibroma , neurofibromatosis , neurofibromatosis type i , medicine , mesentery , histopathology , pathology
Mesenteric plexiform neurofibroma is a subtype of plexiform neurofibroma that involves the mesentery and causes a variety of gastrointestinal complaints. Plexiform neurofibroma is classically found in patients with neurofibromatosis type 1, although genetic contributions to plexiform neurofibroma pathogenesis are heterogeneous. We report the first case of mesenteric plexiform neurofibroma in a patient with a YPEL3 pathogenic variant. This patient presented with growth failure, generalized abdominal pain and chronic diarrhea. She was confirmed to have mesenteric plexiform neurofibroma on histopathology and targeted sequencing on affected tissue confirmed that there were no neurofibromatosis type 1 variants present. Given that this patient's mesenteric plexiform neurofibroma is associated with YPEL3 dysfunction, she is unlikely to benefit from MEK inhibitors, which are the newly approved treatment for inoperable plexiform neurofibroma in patients with neurofibromatosis type 1.