ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Multiple endocrine neoplasia type 2B
Other Resources UpToDate PubMed

Multiple endocrine neoplasia type 2B

Print Images (1)
Contributors: Eduardo De Flammineis, Susan Burgin MD
Other Resources UpToDate PubMed


Multiple endocrine neoplasia type IIB (MEN2B) is a rare autosomal dominant cancer syndrome characterized by aggressive medullary thyroid carcinoma (MTC) (up to 100% of patients), pheochromocytoma (50%), mucosal neuromas (91%-96%), intestinal ganglioneuromatosis (40%-71%), and marfanoid habitus (65%-75%). Ninety-five percent of MEN2B patients have germline gain-of-function mutations of the rearranged during transfection (RET) proto-oncogene located on chromosome 10q11.2.

MEN2B usually presents in children. Mucosal neuromas are a very common finding appearing in children as young as 2 years. MTC typically develops in the first or second decade of life and may occur as early as the first year of life. MTC is marked by neck mass, lymphadenopathy, or diarrhea and flushing in advanced cases. An early history of nonspecific gastrointestinal complaints is common due to diffuse intestinal ganglioneuromas. The usual presentation of pheochromocytoma is in the second or third decade. Approximately 50% of patients will have multiple pheochromocytomas; these will often be bilateral.

Skeletal abnormalities of marfanoid body habitus are seen later in childhood. They include an elongated face and extremities, pronounced joint laxity, kyphoscoliosis, and pectus deformities.

For more information, see OMIM.

Related topics: MEN1, MEN2a


E31.23 – Multiple endocrine neoplasia [MEN] type IIB

61530001 – Multiple endocrine neoplasia, type 3

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • MEN2A – MTC, pheochromocytoma, primary hyperparathyroidism; associated with cutaneous lichen amyloidosis, Hirschsprung disease.
  • Familial or sporadic medullary thyroid carcinoma – Rarely present with associated conditions.
  • Palisaded encapsulated neuroma – Solitary lesion on face, most commonly appearing around 40-60 years of age.
  • Oral mucocele – Single translucent lesion most frequently located on lower lips.
  • Marfan syndrome – Ectopia lentis, aortic abnormalities.

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Reviewed: 04/11/2017
Last Updated: 12/17/2018
Copyright © 2019 VisualDx®. All rights reserved.
Multiple endocrine neoplasia type 2B
Print 1 Images
Multiple endocrine neoplasia type 2B : Distinctive facies with enlarged lips
Copyright © 2019 VisualDx®. All rights reserved.