CQ26. What Is the Usefulness of RET Gene Mutation Analysis for Medullary Carcinoma?

  • Shinya Uchino
  • Daishu Miura
  • Takahiro Okamoto


It is very important to differentiate whether a medullary carcinoma is hereditary or sporadic when determining the treatment strategy preoperatively. If hereditary, it is either multiple endocrine neoplasia type 2 (MEN 2) or familial medullary thyroid carcinoma (FMTC), which is inherited as autosomal dominants. MEN 2A manifests medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia, and MEN 2B is associated with submucosal neuroma of the tongue and/or lips, hyperextension of the extremities, marfanoid habitus, intestinal ganglioneuromatosis, and thickened corneal nerves, in addition to medullary thyroid carcinoma and pheochromocytoma. FMTC hereditarily develops only as medullary carcinoma. The utility of mutation analysis of the RET gene, which is the responsible gene for MEN 2 and FMTC, is investigated based on the literature


Total Thyroidectomy Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Type Medullary Carcinoma Autosomal Dominant 
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Copyright information

© Springer Japan 2013

Authors and Affiliations

  1. 1.Department of SurgeryNoguchi Thyroid Clinic and Hospital FoundationBeppuJapan
  2. 2.Department of Breast and Endocrine SurgeryToranomon HospitalTokyoJapan
  3. 3.Department of Endocrine Surgery and Hygiene & Public Health IITokyo Women’s Medical UniversityTokyoJapan

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