A newly identified missense mutation in RET codon 666 is associated with the development of medullary thyroid carcinoma [Rapid Communication]

Endocrine Journal

Masanori Yamazaki¹  Akihiro Sakurai⁴  Ken-ichi Ito³  Mitsuhisa Komatsu¹  Shinya Uchino²  Toru Hanamura³ 

[1] Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan;Department of Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu 874-0902, Japan;Division of Breast and Endocrine Surgery, Department of Surgery (II), Shinshu University School of Medicine, Matsumoto 390-8621, Japan;Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo 060-8556, Japan

关键词: Medullary thyroid carcinoma;    RET mutation;    Multiple endocrine neoplasia type 2;   

DOI  :  10.1507/endocrj.EJ14-0334

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(15)Cited-By(1)A 38-year-old woman with a thyroid nodule measuring approximately 2 cm was suspected to have medullary thyroid carcinoma (MTC) because of markedly elevated serum calcitonin and carcinoembryonic antigen levels.There were no signs of pheochromocytoma, whereas primary hyperparathyroidism was suspected based on the findings of inappropriate hypersecretion of parathyroid hormone although no parathyroid tumor was detected with imaging studies.RET mutation analysis revealed a novel germline missense mutation in codon 666, c.1997A>G (p.K666R).She underwent total thyroidectomy with lymphadenectomy and simultaneous total parathyroidectomy with autotransplantation of parathyroid tissue.She was given calcium lactate and alfacalcidol to prevent postoperative hypocalcemia.Pathological findings of the thyroid tumor were compatible with MTC, but the resected parathyroid glands were intact.To our knowledge, c.1997A>G (p.K666R) is a new RET mutation.This is a minor variant, but it is significant because of the possible pathogenicity in tumor formation.It is often difficult to determine whether MTC is generated as part of MEN2-related disease or familial MTC when it is a unique manifestation.In addition, it is still unclear whether all missense mutations in this codon reported previously will lead to the same clinical course and prognosis.Further careful observations of clinical presentation are required to determine the clinical features associated with this variant.

【 授权许可】

Unknown