RET Proto-oncogene C634Y Mutation-associated Multiple Endocrine Adenomatosis Type 2A: a Case Report and Literature Review

Abstract

Multiple endocrine adenomatosis type 2A (MEN2A) is a subtype of multiple endocrine adenomatosis type 2, which is clinically characterized by medulloid thyroid carcinoma (MTC) , pheochromocytoma (PHEO) , and hyperparathyroidism, and has been reported to be caused by mutations in the RET proto-oncogene on chromosome 10. We reported a case of MEN2A caused by RET proto-oncogene C634Y mutation, and conducted a pedigree analysis of the patient. Genetic test results showed C634Y mutation in the patient's siblings and their offspring. The diagnosis and treatment of this case in combination with a review of the relevant literature suggest that endocrine gland tests and RET proto-oncogene test should be performed for a patient diagnosed with endocrine adenomatosis to reduce the possibility of misdiagnosis and missed diagnosis, and to achieve early treatment, improve the effect of treatment and the prognosis of patients. In addition, the first- and second-degree relatives of the patient should also be tested for the mutation of the RET proto-oncogene.

Keywords

• multiple endocrine neoplasia type 2a|ret gene|pheochromocytoma|medullothyoid carcinoma