The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi
Ryuta NagaokaKazuo Shimizu


Multiple endocrine neoplasia type 2B (MEN2B) is an extremely rare syndrome mainly caused by RET918 germline mutations. MEN2B typically causes medullary thyroid carcinoma (MTC), pheochromocytoma, and unique physical characteristics including mucosal neuroma, distinctive facial appearance, and Marfanoid habitus. Most patients have abdominal symptoms such as bloating, intermittent constipation, and diarrhea. MTC is the most important determinant of mortality in patients with MEN2B. Establishing the diagnosis of MEN2B at a curative stage of MTC is crucial. We have encountered four patients with MEN2B. Two were hereditary cases from the same family, and two were considered de novo cases with phenotypically normal parents. Mean age at diagnosis was 25.5 years (range, 13-39 years). Although all patients had shown mucosal neuroma on the lips and tongue, in addition to gastrointestinal symptoms from infancy, diagnoses were made from symptomatic MTC even for the hereditary patients (our index case was a 14-year-old girl, whose mother was subsequently diagnosed with advanced MTC). Genetic tests for RET mutations revealed the M918T mutation in all patients. Two patients developed pheochromocytoma, two died from distant metastases of MTC, a...Continue Reading


Sep 21, 2012·International Journal of Pediatric Endocrinology·Roopa Kanakatti ShankarMeilan M Rutter
Nov 2, 2013·Journal of Pediatric Gastroenterology and Nutrition·M G SchäppiS Koletzko
Mar 27, 2015·Thyroid : Official Journal of the American Thyroid Association·Samuel A WellsUNKNOWN American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Jul 13, 2016·United European Gastroenterology Journal·Denys GibbonsDeborah Eckert

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