{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T22:17:04Z","timestamp":1792275424991,"version":"4.4.0"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant genetic disorder caused by activating germline mutations in the\n                      <jats:italic>RET<\/jats:italic>\n                      proto-oncogene, typically arising during embryogenesis. The syndrome is characterized by the coexistence of medullary thyroid carcinoma, pheochromocytoma, gastrointestinal ganglioneuromas, and diffuse mucosal neuromas, the latter representing a pathognomonic clinical feature. In pediatric patients, mucosal neuromas most commonly involve the oral cavity, whereas laryngeal or other airway involvement is exceedingly rare and often underrecognized.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      From 2013 to 2025, two pediatric patients diagnosed with MEN2B were identified at our center. Both cases were confirmed to harbor pathogenic\n                      <jats:italic>RET<\/jats:italic>\n                      gene mutations by genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Result<\/jats:title>\n                    <jats:p>\n                      In this study, we describe two pediatric cases of MEN2B in which laryngeal obstruction and progressive respiratory compromise were the initial clinical manifestations. Laryngoscope and CT examinations revealed mucosal neuromas within the laryngotracheal airway, and postoperative histopathology confirmed the diagnosis of neuroma. We further review the available literature on laryngotracheal involvement in MEN2B to elucidate its phenotypic spectrum and clinical implications. Timely recognition through detailed phenotypic assessment, molecular confirmation of\n                      <jats:italic>RET<\/jats:italic>\n                      mutations, and multidisciplinary management is essential to optimize outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Laryngeal or airway neuromas are extremely rare. Clinicians should maintain a high index of suspicion for laryngeal neuromas in children presenting with characteristic craniofacial dysmorphism or a family history suggestive of endocrine neoplasia, as prompt genetic evaluation and integrated management may be life-saving.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1837870","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:23:15Z","timestamp":1784866995000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: a rare pediatric case series of multiple endocrine neoplasia type 2B presenting with laryngotracheal involvement"],"prefix":"10.3389","volume":"17","author":[{"given":"Zhibo","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Shanghai Children\u2019s Hospital, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiarui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Shanghai Children\u2019s Hospital, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongming","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Shanghai Children\u2019s Hospital, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Shanghai Children\u2019s Hospital, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/S2213-8587(25)00119-6","article-title":"Multiple endocrine neoplasia type 1 (Men1): Recommendations and guidelines for best practice","volume":"13","author":"Brandi","year":"2025","journal-title":"Lancet Diabetes Endocrinol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.58.100305.115303","article-title":"The multiple endocrine neoplasia syndromes","volume":"58","author":"Lakhani","year":"2007","journal-title":"Annu Rev Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/S2213-8587(15)00043-1","article-title":"Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with Men1","volume":"3","author":"Yates","year":"2015","journal-title":"Lancet Diabetes Endocrinol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcancer.2021.03.035","article-title":"Multiple endocrine neoplasia type 2: A review","volume":"79","author":"Mathiesen","year":"2022","journal-title":"Semin Cancer Biol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(196808)22:2<293::aid-cncr2820220206>3.0.co;2-r","article-title":"Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid--a syndrome","volume":"22","author":"Gorlin","year":"1968","journal-title":"Cancer"},{"key":"B6","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1002\/path.1700910109","article-title":"Multiple mucosal neuromata with endocrine tumours: A syndrome allied to Von Recklinghausen's disease","volume":"91","author":"Williams","year":"1966","journal-title":"J Pathol Bacteriol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.11.4508","article-title":"Germline dinucleotide mutation in codon 883 of the Ret proto-oncogene in multiple endocrine neoplasia type 2b without codon 918 mutation","volume":"82","author":"Gimm","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1996.03540190047028","article-title":"The relationship between specific Ret proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. 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