Which mutations are associated with multiple endocrine neoplasia type 2B (MEN 2B)?

Updated: Jul 20, 2020
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
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Answer

Patients with MEN 2B may also have ganglioneuromatosis of the gastrointestinal (GI) tract, which can cause functional GI problems. A germline missense mutation in the tyrosine kinase domain of the ret proto-oncogene (exon 16, codon 918) has been reported to be present in 95% of patients with MEN 2B.


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