The n e w e ng l a n d j o u r na l of m e dic i n e

Images in Clinical Medicine

Chana A. Sacks, M.D., Editor

Mucosal Neuromas

Andrew R. Scott, M.D.

Rebecca A. Compton, M.D.
Tufts Medical Center
Boston, MA
ascott@​­tuftsmedicalcenter​.­org

A 
7-year-old boy presented to the pediatric otolaryngology clinic with a 3-year history of
multiple firm, painless, slow-growing nodules on his tongue. He had a history of mild developmental delay,
and a physical examination showed a high arched palate and marfanoid habitus. Excisional biopsies of the
lesions on the tongue revealed mucosal neuromas. Multiple endocrine neoplasia type 2B was suspected. Ultrasonog-
raphy of the neck revealed hypo­echoic thyroid nodules without cervical lymphadenopathy. The calcitonin level was
407 ng per liter (normal value, <6); serum levels of metanephrines were within the normal range. There was no
family history of multiple endocrine neoplasia. Genetic testing confirmed a pathogenic mutation in the gene encod-
ing ret proto-oncogene (RET). Multiple endocrine neoplasia type 2B is an autosomal-dominant syndrome character-
ized by mucosal neuromas, pheochromocytoma, and medullary thyroid carcinoma. Early diagnosis of medullary
thyroid cancer is critical to improving long-term outcomes; therefore, the recognition of nonendocrine manifesta-
tions is important in this syndrome. The child underwent a total thyroidectomy and bilateral neck dissection, which
revealed three separate foci of medullary microcarcinoma without extrathyroidal spread. At a 9-month follow-up
visit, the child had recovered well from surgery and was growing normally. After the visit, he continued to undergo
routine clinical surveillance.
DOI: 10.1056/NEJMicm1815549
Copyright © 2019 Massachusetts Medical Society.

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