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Laryngeal neuroma in multiple endocrine neoplasia type 2B
Naomi Kudo1, Atsushi Matsubara1, Takahisa Abe1
1Department of Otorhinolaryngology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
Abstract:
Multiple endocrine neoplasia (MEN) type 2 syndrome is an autosomal dominant inherited disease caused by mutations of the RET proto-oncogene, and is clinically divided into three phenotypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma. Although multiple mucosal neuromas are commonly observed in patients with MEN2B, there are only a few reports of laryngeal neuroma. We present here a rare case of laryngeal mucosal neuromas with MEN2B.
Insights
Multiple endocrine neoplasia type 2B (MEN2B) is a rare genetic disorder. This report details an unusual case of laryngeal neuromas associated with MEN2B, highlighting a less common clinical manifestation.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited disorder.
- It is caused by mutations in the RET proto-oncogene.
- MEN2 presents in three main phenotypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma.
Observation:
- Multiple mucosal neuromas are a common feature in MEN2B.
- Laryngeal neuroma is an infrequent finding in MEN2B patients.
- This study reports a rare case of laryngeal mucosal neuromas in a patient with MEN2B.
Findings:
- The case highlights laryngeal neuroma as a potential, albeit rare, manifestation of MEN2B.
- This expands the known clinical spectrum of MEN2B-associated mucosal neuromas.
Implications:
- Increased awareness of laryngeal neuroma in MEN2B may improve early diagnosis.
- This case underscores the importance of thorough clinical evaluation for diverse presentations of genetic syndromes.
- Further research into the specific mechanisms causing laryngeal involvement in MEN2B may be warranted.
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