A comprehensive review on MEN2B

  1. Steven G Waguespack4
  1. 1Department of Endocrinology, Aix Marseille University, CNRS UM 7286, Assistance Publique Hopitaux de Marseille, Marseille, France
  2. 2Department of Surgery, Washington University School of Medicine, St Louis, Missouri, USA
  3. 3Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston, Ontario, Canada
  4. 4Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  1. Correspondence should be addressed to F Castinetti: frederic.castinetti{at}univ-amu.fr
  1. View larger version:
    Figure 1

    The development of medullary thyroid carcinoma (MTC). From normal C-cells (A), the tumor follows an asymptomatic hyperplasic state (B) before the development of microMTC (C, size ≤1 cm) and then macroMTC (D, size >1 cm).

  2. View larger version:
    Figure 2

    The pathognomonic clinical phenotype of MEN2B: (1) a marfanoid body habitus (A) and other skeletal features including scoliosis (A), pes cavus (B), and high-arched palate (C); (2) thickened lips and neuromas affecting the tongue (D and E), the oral mucosa, (F) the conjunctiva (G), and other mucosal surfaces; (3) ophthalmological signs including ptosis and everted upper eyelids (G); and (4) gastrointestinal problems primarily related to impaired colonic motility due to diffuse intestinal ganglioneuromatosis that can lead to megacolon (H). For additional clinical manifestations of MEN2B, please refer to the text.

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  1. doi: 10.1530/ERC-17-0209 Endocr Relat Cancer 25 T29-T39
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