Aldred Michael J, Talacko Anna A, Savarirayan Ravi, Murdolo Vince, Mills Alan E, Radden Bryan G, Alimov Andrei, Villablanca Andrea, Larsson Catharina
Dorevitch Pathology, Victoria 3084, Australia.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 Feb;101(2):212-8. doi: 10.1016/j.tripleo.2005.06.011. Epub 2005 Oct 12.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an important diagnosis because of the possible involvement of other family members and risk of malignant disease. We report clinical and genetic studies in a previously undocumented Australian family with HPT-JT. The proband and his sister presented with bilateral or recurrent mandibular radiolucencies diagnosed histopathologically as cemento-ossifying fibromas. Mutation screening of the recently identified disease gene HRPT2 was performed by direct sequencing in 3 affected members. This revealed a novel mutation in exon 1 of HRPT2 (nt 20AGGACG --> GGGAG), which is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation. The terminology used for the jaw lesions in this syndrome warrants review to become more consistent. Cemento-ossifying fibroma is the preferred term to better reflect the pathologies found in most individuals and families,and to emphasize the significance of the jaw lesions in the diagnosis of the syndrome.
甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）是一种重要的诊断疾病，因为其他家庭成员可能受累且存在恶性疾病风险。我们报告了一个此前未记录的患有HPT-JT的澳大利亚家庭的临床和遗传学研究。先证者及其妹妹表现为双侧或复发性下颌骨透射性病变，经组织病理学诊断为牙骨质骨化纤维瘤。对3名受影响成员通过直接测序对最近鉴定出的致病基因HRPT2进行突变筛查。结果显示HRPT2外显子1存在一个新突变（nt 20AGGACG --> GGGAG），预计该突变会通过蛋白质截短和翻译提前终止使 parafibromin 蛋白失活。该综合征中用于颌骨病变的术语需要重新审视以使其更加一致。牙骨质骨化纤维瘤是更合适的术语，能更好地反映大多数个体和家庭中发现的病理情况，并强调颌骨病变在该综合征诊断中的重要性。
