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Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report

Yan Li1, Ya-Qin Tan, Zhi-Xiang Tang

  • 1Department of Endocrinology and Metabolism, Longgang District People's Hospital of Shenzhen, The Third Affiliated Hospital (Provisional) of The Chinese University of Hong Kong, Longgang central city, Shenzhen, Guangdong, P.R. China.

Medicine
|June 4, 2021
PubMed
Abstract

Insights

Multiple endocrine neoplasia 2A (MEN2A) is a rare genetic disorder. Early diagnosis and multidisciplinary management are crucial for patients with MEN2A, as demonstrated by this case involving pheochromocytoma and medullary thyroid carcinoma.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple Endocrine Neoplasia 2A (MEN2A) is a rare autosomal-dominant disorder.
  • Clinical underdiagnosis of MEN2A can lead to delayed treatment.

Observation:

  • A 47-year-old male with pheochromocytoma (PHEO) developed elevated carcinoembryonic antigen (CEA) post-surgery.
  • Further evaluation revealed medullary thyroid carcinoma (MTC), neck lymph node metastasis, and pituitary microadenoma.

Findings:

  • Genetic analysis identified the p.Cys611Tyr (C611Y) mutation, confirming MEN2A diagnosis.
  • The patient underwent total thyroidectomy, leading to a significant decrease in CEA levels.
  • His daughter, also carrying the C611Y mutation, presented with elevated calcitonin and thyroid nodules, prompting a recommendation for thyroidectomy.

Implications:

  • Regular screening and comprehensive management by a multidisciplinary team are essential for MEN2A patients.
  • Genetic testing and family screening are critical for early detection and intervention in MEN2A kindreds.

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