Multiple endocrine neoplasia 2A with RET mutation p.Cys380Arg (GRCh38): A case report

  • Luu Thuy Quynh 108 Military Central Hospital
  • Pham Thi Hong Nhung 108 Military Central Hospital
  • Nguyen Thi Thuy 108 Military Central Hospital
  • Vu Thi Loan 108 Military Central Hospital
  • Nguyen Thi Thuy Linh 108 Military Central Hospital
  • Le Bich Nhan 108 Military Central Hospital
  • Nguyen Van Manh 108 Military Central Hospital
  • Le Minh Thang 108 Military Central Hospital
  • Nguyen Thi Kieu Trinh 108 Military Central Hospital
  • Ngo Thi Phuong 108 Military Central Hospital

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Abstract

MEN 2A is a complex autosomal dominant inherited syndrome characterized by pheochromocytoma (PC), medullary thyroid carcinoma (MTC) and primary parathyroid hyperplasia (PHP). We report a case of 26 years old female offended with bilateral pheochromocytoma, medullary thyroid carcinoma and primary hyperparathyroidism due to multiple endocrine neoplasia type 2A confirmed by RET gene mutation p.Cys380Arg according to the GRCh38 (Genome Reference Consortium Humain Build 38 Organism - 2013) classification. The mutation with a change of amino acid 380 from Cys (Cysteine) to Arg (Arginin) is found in more than one-half of kindreds with MEN2A.

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References

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