Identification of a germline mutation in the HRPT2 gene in a Chinese family with parathyroid carcinomas
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概要
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This study reported a family with primary hyperparathyroidism due to parathyroid carcinoma and investigated the pathological and genetic features of family members. Three members of the family had clinical manifestation of primary hyperparathyroidism and tumors in the neck. All three patients underwent parathyroidectomy, thyroidectomy and level-VI neck dissection and were definitively diagnosed based on pathology. The index case was a patient that was found to have parathyroid carcinoma on the right side and parathyroid adenoma on the left side. The other two patients had local tumor recurrence and metastasis to distant organs. A germline mutation in the HRPT2 gene (Arg91Pro) was identified in all of the patients in this family. Study of the literature indicated that this is the first report of familial parathyroid carcinomas with an HRPT2 gene missense mutation. Results also indicated that HRPT2 may play an important role in
- 特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会の論文
著者
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Zhang Mei
Department Of Chemistry Wuhan University
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Wang Yulong
Department of Agronomy, Agricultural College, Yangzhou University
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Li Qin
Department of Biochemistry and Molecular Biology, School of Pharmaceutical Engineering, Shenyang Pha
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Gu He
Department Of Anatomy And Neurobiology Faculty Of Medicine Kagawa University
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Zhang Lili
Department Of Mathematics And Physics Xi'an Technological University
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Zhang Lili
Department of Thyroid & Breast Surgery, Qianfoshan Hospital Affiliated with Shandong University
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Fu Rongzhan
Department of Thyroid & Breast Surgery, Qianfoshan Hospital Affiliated with Shandong University
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Chen Shouhua
Department of Thyroid & Breast Surgery, Qianfoshan Hospital Affiliated with Shandong University
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Yuan Kai
Department of Thyroid & Breast Surgery, Qianfoshan Hospital Affiliated with Shandong University
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Cui Yazhou
Shandong Academy of Medical Sciences, Shandong Medical Biotechnological Center, Ministry of Health Key Laboratory for Biotech Drugs
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