HRPT2 gene alterations in ossifying fibroma of the jaws

被引：75

作者：

Pimenta, Flavio Juliano

Gontijo Silveira, Leticia Ferreira

Tavares, Gabriela Cordeiro

Silva, Andreza Campos

Perdigao, Paolla Freitas

Castro, Wagner Henriques

Gomez, Marcus Vinicius

Teh, Bin Tean

De Marco, Luiz

Gomez, Ricardo Santiago

机构：

[1] Univ Fed Minas Gerais, Fac Odontol, Sch Dent, Dept Oral Surg & Pathol, BR-31270901 Belo Horizonte, MG, Brazil

[2] Univ Fed Minas Gerais, Dept Pharmacol, BR-31270901 Belo Horizonte, MG, Brazil

[3] Van Andel Res Inst, Canc Genet Lab, Grand Rapids, MI USA

来源：

ORAL ONCOLOGY | 2006年 / 42卷 / 07期

关键词：

ossifying fibroma; juvenile ossifying fibroma; hyperparathyroidism-jaw tumour syndrome; HRPT2; gene; tumour suppressor gene;

D O I：

10.1016/j.oraloncology.2005.11.019

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Ossifying fibroma (OF) is a benign neoplasm related to bone characterized by a progressive enlargement of the affected jaw. Recently, the candidate tumor suppressor gene HRPT2 was identified and alterations in this gene were related with the Hyperparathyroidism-jaw tumor syndrome that is characterized by parathyroid adenoma or carcinoma, fibro-osseous lesions (mainly OF) of the jaws, and renal lesions. The purpose of the present study was to evaluate the HRPT2 gene in OF. Tumour and blood samples were obtained from 3 patients with OF and one with juvenile ossifying fibroma (JOF). The results demonstrated three novel mutations in two out of three genotyped OF's. Interestingly, one of these patients showed a germ-tine mutation after blood analysis. RT-PCR amplification was performed to analyze HRPT2 mRNA expression and only wild-type HRPT2 transcript was found in all tumours. Investigation of the parafibromin protein by immunohistochemistry showed a similar pattern of immunolocalization with strong nuclear and cytoplasmic staining in all cases. In conclusion, the present study shows for the first time mutations of HRPT2 gene in OF and suggests that OF may arise due to haploinsufficiency of the HRPT2 gene. (c) 2005 Elsevier Ltd. All rights reserved.

引用

页码：735 / 739

页数：5

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