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Gut. 1999 July; 45(1): 143–146.
PMCID: PMC1727575

Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment


Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germline RET M918T mutation in pseudo-Hirschsprung's disease is an indication for prophylactic thyroidectomy.

Keywords: intestinal ganglioneuromatosis; RET; MEN 2B; thyroidectomy

Figure 1
Section of mucosa and submucosa showing extensive ganglioneuromatosis filling the submucosa (case 3). Original magnification × 50. 
Figure 2
Section showing the myenteric plexus which comprises one giant ganglioneuroma. Note thick nerve trunks embedded with mature neurones (arrowhead). Original magnification × 200. 

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