hrp0092p2-215 | Multisystem Endocrine Disorders | ESPE2019

Intestinal Ganglioneuromatosis as First Manifestation of Multiple Endocrine Neoplasia 2B in a Premature Girl

Leunbach Tina Lund , Madsen Mette , Nielsen Rasmus G , Hansen Dorthe , Mathiesen Jes S

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...