Surveillance for early detection of aggressive parathyroid disease:: Carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation

被引：57
|
作者：
Kelly, Thomas G.
Shattuck, Trisha M.
Reyes-Mugica, Miguel
Stewart, Andrew F.
Simonds, William F.
Udelsman, Robert
Arnold, Andrew
Carpenter, Thomas O.
机构：
[1] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA
[2] Univ Connecticut, Sch Med, Ctr Mol Med, Farmington, CT USA
[3] Univ Connecticut, Sch Med, Div Endocrinol & Metab, Farmington, CT USA
[4] Yale Univ, Sch Med, Dept Pathol, New Haven, CT 06520 USA
[5] Univ Pittsburgh, Dept Internal Med Endocrinol, Pittsburgh, PA USA
[6] NIDDKD, NIH, Bethesda, MD 20892 USA
[7] Yale Univ, Sch Med, Dept Surg, New Haven, CT 06510 USA
来源：
JOURNAL OF BONE AND MINERAL RESEARCH | 2006年 / 21卷 / 10期
关键词：
CDC73; familial parathyroid disorders; genetics; hyperparathyroidism; parathyroid carcinoma; parathyroid tumorigenesis; JAW TUMOR SYNDROME; HEREDITARY HYPERPARATHYROIDISM; GENE HRPT2; PARAFIBROMIN; MANAGEMENT; DISORDERS; DIAGNOSIS; 1Q21-Q32; LOCUS; MAPS;
D O I：
10.1359/JBMR.060702
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Familial hyperparathyroid syndromes involving mutations of HRPT2 (also CDC73), a tumor suppressor, are important to identify because the relatively high incidence of parathyroid malignancy associated with such mutations warrants a specific surveillance strategy. However, there is a dearth of reports describing experience with surveillance and early detection informed by genetic insight into this disorder.
引用
收藏
页码：1666 / 1671
页数：6
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