多发性骨化性纤维瘤：甲状旁腺功能亢进-颌骨肿瘤综合征的一种表现
Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome.
作者信息
Apandi Nurul Inaas Mahamad, Basri Nor Nazaliza, Jalil Ajura Abdul, Jelon Md Arad
机构信息
Department of Diagnostics and Craniofacial Biosciences, Faculty of Dentistry, The National University of Malaysia, Kuala Lumpur, Malaysia.
Oral Pathology and Oral Medicine Unit, Department of Oral & Maxillofacial Surgery, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur, Malaysia.
出版信息
Case Rep Dent. 2023 Mar 8;2023:4664619. doi: 10.1155/2023/4664619. eCollection 2023.
Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant disease. It is caused by a gene mutation of the tumour suppressor gene CDC73 that encodes for parafibromin. This syndrome predisposes to a triad occurrence of multiple maxillary or mandibular cemento-ossifying fibroma, parathyroid adenoma or carcinoma, and renal and uterine tumours. In this study, we report a case of HPT-JT occurring in a 30-year-old male patient.
甲状旁腺功能亢进-颌骨肿瘤（HPT-JT）综合征是一种罕见的常染色体显性疾病。它由肿瘤抑制基因CDC73的基因突变引起，该基因编码 parafibromin。此综合征易引发上颌或下颌多发性牙骨质骨化纤维瘤、甲状旁腺腺瘤或癌以及肾和子宫肿瘤这三种疾病同时出现。在本研究中，我们报告了一例发生在一名30岁男性患者身上的HPT-JT病例。
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