Fifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases

The Journal of Clinical Endocrinology and Metabolism
Rossella EliseiCristina Romei

Abstract

Multiple endocrine neoplasia type 2B (MEN 2B) is a very rare syndrome characterized by a very peculiar phenotype with mucosal neuromas, marfanoid habitus, and bumpy lips associated with medullary thyroid cancer (MTC) and pheochromocytoma (PHEO). Although the syndrome was first described 50 years ago, it is still diagnosed too late, when the MTC is metastatic and frequently when the PHEO has already developed. We report on two cases of MEN 2B that were diagnosed too late, preventing a cure. The cases involve two females who were 25 and 12 years old. Both were previously treated for congenital skeletal abnormalities; however, despite their bumpy lips and mucosal neuromas, MEN 2B syndrome was not recognized. When they arrived at our center for both the presence of thyroid nodules and elevated serum calcitonin values, the MTC was already metastatic, and the older patient had already developed a bilateral PHEO. After 3 years and 1 year of follow-up, the two patients are still alive but with persistent structural and biochemical disease. These two cases show that knowledge of this syndrome is still insufficient and that the lack of knowledge impairs the ability to obtain an early diagnosis and cure. Because most patients with MEN 2B ...Continue Reading

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Citations

Aug 18, 2020·Case Reports in Endocrinology·Carlotta GianiRossella Elisei
Oct 28, 2019·Endocrinology and Metabolism Clinics of North America·Sergei G Tevosian, Hans K Ghayee
Nov 24, 2020·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·Andreas MachensHenning Dralle
Sep 21, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Felix EckeltJuergen Kratzsch

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