multiple endocrine neoplasia type-2B (MEN-2B)

Introduction

Also see MEN-2.

Pathology

• features of MEN 2A except parathyroid disease
• medullary thyroid carcinoma may be present in the first year of life & commonly causes death in the 2nd or 3rd decade of life
• pheochromocytoma, often multiple
• ganglioneuromas (neural cell hyperplasia) of the lips, tongue & colon
• mucosal neuroma
• sometimes skeletal (Marfanoid) & eye abnormalities

Genetics

• associated with defects in RET, exon 16, codon 918

Laboratory

• serum calcium: hypercalcemia is rare
• ret gene mutation

Management

• GLP-1 receptor agonists (incretin mimetics, glutides) are contraindicated in patients with medullary thyroid cancer or MEN2

More general terms

• multiple endocrine neoplasia type-2 (MEN-2)

Additional terms

• medullary thyroid carcinoma

Patient information

multiple endocrine neoplasia type-2B patient information

Database

• OMIM: https://mirror.omim.org/entry/162300
• OMIM: https://mirror.omim.org/entry/164761