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Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families

Qiuli Liu1, Dali Tong, Wenqiang Yuan

  • 1Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, PR China Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, PA.

Medicine
|January 19, 2017
PubMed
Abstract

Insights

Multiple endocrine neoplasia type 2A (MEN2A) involves RET gene mutations, increasing cancer risk. Genetic testing and early thyroidectomy are crucial for managing MEN2A in Chinese families.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited disorder.
  • It is caused by mutations in the RET (rearranged during transfection) gene.
  • MEN2A significantly increases the risk of medullary thyroid cancer (MTC) and other endocrine tumors.

Purpose of the Study:

  • To investigate MEN2A genetic characteristics in the Chinese population.
  • To identify RET gene mutations in affected families.
  • To correlate genotype with clinical presentation.

Main Methods:

  • Clinical, laboratory, and genetic analyses were performed on 3 MEN2A families.
  • Exome sequencing was utilized for probands.
  • RET gene mutation screening was conducted on all family members.

Main Results:

  • Identified distinct RET gene mutations: C634S (Family 1), C611Y (Family 2), and C634Y (Family 3).
  • Clinical presentations included MTC and pheochromocytoma.
  • Proband 1: pheochromocytoma with MTC; Proband 2: MTC and pheochromocytoma; Proband 3: MTC.

Conclusions:

  • Genetic evaluation is recommended for individuals with a family history, early onset, or multiple tumors.
  • Verification of RET gene mutations guides prophylactic thyroidectomy.
  • Early intervention improves prognosis for MEN2A patients.

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