Hirschsprung disease of the colon, a vaginal mass and medullary thyroid cancer - a RET oncogene driven problem

This case report emphasizes the fact that all patients with Hirschsprung disease should be screened for RET Oncogene mutation as there is a well known association between Hirschsprung Disease and Multiple Endocrine Neoplasia (MEN) Type 2A. It also reminds us that Medullary Thyroid Carcinoma is known to cause elevated levels of CEA which does not originate from gastrointestinal tract.