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Case Reports
. 2021 Jul 12;2(3):e098.
doi: 10.1097/PG9.0000000000000098. eCollection 2021 Aug.

Mesenteric Plexiform Neurofibroma as a Cause of Weight Loss and Chronic Diarrhea in a Patient with YPEL3 Variant

Irina Gorbounova  1 , Arthur Lenahan  2 , Tara Lynn Wenger  3 , Erin Rudzinski  4 , Elizabeth Ren-Yee Tang  5 , Caitlin A Smith  6 , Danielle Wendel  1 , Simon Horslen  1 , Lusine Ambartsumyan  1
Affiliations
Case Reports

Mesenteric Plexiform Neurofibroma as a Cause of Weight Loss and Chronic Diarrhea in a Patient with YPEL3 Variant

Irina Gorbounova et al. JPGN Rep. .

Abstract

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.

Keywords: genetics; malnutrition; tumor.

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Conflict of interest statement

The authors report no funding and conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Coronal image from contrast-enhanced abdominal computed tomography shows abnormal diffuse soft tissue infiltration (arrows) throughout the mesentery, particularly around the mesenteric vessels.
FIGURE 2.
FIGURE 2.
Thickened mesentery with nodular cord–like structures on gross examination.
FIGURE 3.
FIGURE 3.
Histologic examination showed tortuous expansions of peripheral nerve ([A] hematoxylin and eosin stain) characterized by spindled cells in a myxoid background surrounded by perineurium ([B] hematoxylin and eosin stain).
See this image and copyright information in PMC

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