Oncological implications of RET gene mutations in Hirschsprung's disease

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Abstract

Background

Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5-5% of sporadic and familial cases of Hirschsprung's disease. Some patients with Hirschsprung's disease may therefore be exposed to a highly increased risk of tumours.

Aims

To define clinical use of RET gene testing in Hirschsprung's disease and related patient management from an oncological point of view.

Methods

Sixty patients with Hirschsprung's disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented.

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