Analysis Of Clinical Diagnosis And Treatment Of A MEN2A Pedigree With Hereditary Medullary Thyroid Carcinoma

ObjectiveTo investigate the clinical characteristics of MEN2 A patients with hereditary medullary thyroid carcinoma.MethodsThe clinical data of 4 members of two MEN2 A pedigrees with hereditary medullary thyroid carcinoma were analyzed retrospectively,and RET genetic screening in all family members were performed.ResultsOne patient received the residual right thyroid tissue and bilateral level VI lymph node dissection because of medullary thyroid cancer recurrence,The second patient received total thyroidectomy and bilateral level VI lymph node dissection after the initial diagnosis was confirmed in our hospital,RET genetic screening showed heterozygous missense mutations of TGC to TAC at codon 611 on exon 10 in this pedigree.The third patient and the fourth patient all received total thyroidectomy and bilateral level VI lymph node dissection after the initial diagnosis was confirmed in our hospital,RET genetic screening showed heterozygous missense mutations of TGC to TAC at codon 634 on exon 11 in this pedigree.Conclusion1.Through the investigation of the family,it was found that the p.Cys611 Tyr related MEN2 A family is the first one in China.The disease is characterized by medullary thyroid carcinoma and pheochromocytoma,not accompanied with the manifestations of hyperparathyroidism.2.Through the investigation of the family,it was found that the p.Cys634 Tyr related MEN2 A family is characterized by medullary thyroid carcinoma,accompanied with left adrenal hyperplasia,not accompanied with the manifestations of hyperparathyroidism.