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Different RET Gene Mutation-Induced Multiple Endocrine Neoplasia Type 2A in 3 Chinese Families
  • Qiuli Liu
  • Dali Tong
  • Wenqiang Yuan
  • Gaolei Liu
  • Gang Yuan
  • Weihua Lan
  • Dianzheng Zhang, Philadelphia College of Osteopathic Medicine
  • Jun Zhang
  • Zaoming Huang
  • Yao Zhang
  • Jun Jiang
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BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics. Exome sequencing was performed on the 3 probands, and specific mutation in RET was further screened on each of the family members. RESULTS: Different mutations in the RET gene were identified: C634S in Family 1, C611Y in Family 2, and C634Y in Family 3. Proband 1 mainly showed pheochromocytoma with MTC, both medullary thyroid carcinoma and pheochromocytoma were seen in proband 2, and proband 3 showed medullary thyroid carcinoma. CONCLUSION: The genetic evaluation is strongly recommended for patients with a positive family history, early onset of age, or multiple sites of masses. If the results verified the mutations of RET gene, thyroidectomy should be undertaken as the guide for better prognosis.
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This article was published in Medicine, Volume 96, Issue 3.

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Copyright © 2017. This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal.

Citation Information
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, et al.. "Different RET Gene Mutation-Induced Multiple Endocrine Neoplasia Type 2A in 3 Chinese Families" Medicine Vol. 96 Iss. 3 (2017)
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