EP81 – The reality of MEN2B diagnosis: awareness of unique physical appearance is important

      Ryuta, Nagaoka1; Marie, Sanada1; Tomoo, Jikuzono1; Ritsuko, Okamura1; Takehito, Igarashi1; Haruki, Akasu1; Iwao, Sugitani1; Kazuo, Shimizu1 1 Department of Endocrine Surgery, Nippon Medical School, Sendagi, Bunkyo-ku, Tokyo, Japan   Background: 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 MEN2B patients. Establishing the diagnosis of MEN2B at a curative stage of MTC is crucial. Case presentation: 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 (index case was a 14-year-old girl, with her mother subsequently diagnosed as having advanced MTC). Genetic tests for RET mutation revealed M918T mutation in all patients. Two patients developed pheochromocytoma bilaterally. Two died from distant metastases of MTC and two received treatment for multiple metastases of MTC (one with vandetanib). Conclusion: In our series, prophylactic or early thyroidectomy could not be performed for patients with MEN2B. The characteristic phenotype associated with MEN2B is almost always seen prior to detection of MTC or pheochromocytoma. Knowledge about the non-endocrine manifestations of MEN2B needs to be shared among pediatric and gastroenterological physicians.


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