A newly identified missense mutation in <i>RET</i> codon 666 is associated with the development of medullary thyroid carcinoma [Rapid Communication]
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- Yamazaki Masanori
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan Department of Drug Discovery Science, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
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- Hanamura Toru
- Division of Breast and Endocrine Surgery, Department of Surgery (II), Shinshu University School of Medicine, Matsumoto 390-8621, Japan
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- Ito Ken-ichi
- Division of Breast and Endocrine Surgery, Department of Surgery (II), Shinshu University School of Medicine, Matsumoto 390-8621, Japan
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- Uchino Shinya
- Department of Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu 874-0902, Japan
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- Sakurai Akihiro
- Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo 060-8556, Japan
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- Komatsu Mitsuhisa
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
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抄録
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.
収録刊行物
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- Endocrine Journal
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Endocrine Journal 61 (11), 1141-1144, 2014
一般社団法人 日本内分泌学会