Journal article

Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa.

John M Hutson, Pam J Farmer, Cristal J Peck, Chung W Chow, Bridget R Southwell

World Journal of Gastrointestinal Pathophysiology | Published : 2017

Abstract

Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome caused by an activating mutation of the RET gene, leading to enteric gangliomatosis. This child presented with constipation at 1-mo old, was diagnosed with MEN2B by rectal biopsy at 4 mo, had thyroidectomy at 9 mo and a colectomy at 4 years. We studied the extent of neuronal and nerve fibre proliferation and which classes of enteric nerves are affected by examining the colon with multiple neuronal antibodies. Resected transverse colon was fixed, frozen, sectioned and processed for fluorescence immunohistochemistry labelling with antibodies against TUJ1, Hu, ChAT, NOS, VIP, SP and CGRP and cKit. Control transverse colon was from the n..

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