Genetics of Hyperparathyroidism, Including Parathyroid Cancer

被引：18

作者：

Simonds, William F. ^{[1
]}

机构：

[1] NIDDK, Metab Dis Branch, NIH, Bldg 10,Room 8C-101,10 Ctr Dr,MSC 1752, Bethesda, MD 20892 USA

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2017年 / 46卷 / 02期

关键词：

Tumor suppressor; Oncogene; Multiple endocrine neoplasia; MEN1; MEN2A; CDC73; CCND1; RET; MULTIPLE-ENDOCRINE-NEOPLASIA; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; CALCIUM-SENSING RECEPTOR; JAW TUMOR SYNDROME; NEONATAL SEVERE HYPERPARATHYROIDISM; COMPARATIVE GENOMIC HYBRIDIZATION; SPORADIC PRIMARY HYPERPARATHYROIDISM; GERM-LINE MUTATIONS; CYCLIN D1; MEN1; GENE;

D O I：

10.1016/j.ecl.2017.01.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Primary hyperparathyroidism (HPT) is a metabolic disease caused by the excessive secretion of parathyroid hormone from 1 or more neoplastic parathyroid glands. HPT is largely sporadic, but it can be associated with a familial syndrome. The study of such families led to the discovery of tumor suppressor genes whose loss of function is now recognized to underlie the development of many sporadic parathyroid tumors. Heritable and acquired oncogenes causing parathyroid neoplasia are also known. Studies of somatic changes in parathyroid tumor DNA and investigation of kindreds with unexplained familial HPT promise to unmask more genes relevant to parathyroid neoplasia.

引用

收藏

页码：405 / +

页数：15

相关论文

共 87 条

[1] Comparative genomic hybridization analysis of human parathyroid tumors [J].

Agarwal, SK ;

Schröck, E ;

Kester, MB ;

Burns, AL ;

Heffess, CS ;

Ried, T ;

Marx, SJ .

CANCER GENETICS AND CYTOGENETICS, 1998, 106 (01) :30-36

[2] Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States [J].

Agarwal, Sunita K. ;

Mateo, Carmen M. ;

Marx, Stephen J. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (05) :1826-1834

[3] MOLECULAR-CLONING AND CHROMOSOMAL MAPPING OF DNA REARRANGED WITH THE PARATHYROID-HORMONE GENE IN A PARATHYROID ADENOMA [J].

ARNOLD, A ;

KIM, HG ;

GAZ, RD ;

EDDY, RL ;

FUKUSHIMA, Y ;

BYERS, MG ;

SHOWS, TB ;

KRONENBERG, HM .

JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (06) :2034-2040

[4]

Arnold A, 2008, PRIMER METABOLIC BON, P361

[5] New role for ZFX in oncogenesis [J].

Arnold, Andrew ;

Soong, Chen-Pang .

CELL CYCLE, 2014, 13 (22) :3465-3466

[6] Primary hyperparathyroidism [J].

Bilezikian, John P. ;

Cusano, Natalie E. ;

Khan, Aliya A. ;

Liu, Jian-Min ;

Marcocci, Claudio ;

Bandeira, Francisco .

NATURE REVIEWS DISEASE PRIMERS, 2016, 2 :1-16

[7] Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome [J].

Bradley, KJ ;

Hobbs, MR ;

Buley, ID ;

Carpten, JD ;

Cavaco, BM ;

Fares, JE ;

Laidler, P ;

Manek, S ;

Robbins, CM ;

Salti, IS ;

Thompson, NW ;

Jackson, CE ;

Thakker, RV .

JOURNAL OF INTERNAL MEDICINE, 2005, 257 (01) :18-26

[8] Frequent Large Germline HRPT2 Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism [J].

Bricaire, Leopoldine ;

Odou, Marie-Francoise ;

Cardot-Bauters, Catherine ;

Delemer, Brigitte ;

North, Marie-Odile ;

Salenave, Sylvie ;

Vezzosi, Delphine ;

Kuhn, Jean-Marc ;

Murat, Arnaud ;

Caron, Philippe ;

Sadoul, Jean-Louis ;

Silve, Caroline ;

Chanson, Philippe ;

Barlier, Anne ;

Clauser, Eric ;

Porchet, Nicole ;

Groussin, Lionel .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (02) :E403-E408

[9] Role of the calcium-sensing receptor in extracellular calcium homeostasis [J].

Brown, Edward M. .

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 27 (03) :333-343

[10] Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium [J].

Brown, EM .

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 2000, 29 (03) :503-+

← 1 2 3 4 5 6 7 8 9 →