Clinical Investigation of FIHP, Parathyroid Cancer &the HPT-JT Syndrome

Simonds, William F.

Abstract

The purpose of this study is the clinical characterization of individuals and kindreds with parathyroid cancer, FIHP, and HPT-JT with the goals of defining the clinical spectrum of disease, identifying shared or novel germline mutations, and searching for possible genotype-phenotype correlations. Human research subjects included patients admitted to the NIH Clinical Center on Metabolic Diseases Branch and related protocols as well as qualified offsite patients. Gene mutational analysis, biochemical testing of blood and urine, and imaging using plain X-rays, CT and MRI scanning, and nuclear medicine studies were used to characterize patients. Some patients were characterized during one or a few visits, while members of selected kindreds were followed longitudinally over years.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Type: Intramural Research (Z01)
• Project #: 1Z01DK043012-06
• Application #: 7593589
• Support Year: 6
• Fiscal Year: 2007
• Total Cost: $283,619

Institution

• Name: National Institute of Diabetes and Digestive and Kidney Diseases
• Country: United States

Publications

Sharretts, John M; Kebebew, Electron; Simonds, William F (2010) Parathyroid cancer. Semin Oncol 37:580-90

Simonds, William F (2007) Ruling out a suspect: the role of beta-catenin mutation in benign parathyroid neoplasia. J Clin Endocrinol Metab 92:1235-6

Marx, Stephen J; Simonds, William F (2006) Editorial: Imaging to detect early endocrine cancers. J Clin Endocrinol Metab 91:2861-3

Kelly, Thomas G; Shattuck, Trisha M; Reyes-Mugica, Miguel et al. (2006) Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J Bone Miner Res 21:1666-71

Pidasheva, Svetlana; Canaff, Lucie; Simonds, William F et al. (2005) Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. Hum Mol Genet 14:1679-90

Marx, Stephen J; Simonds, William F (2005) Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 26:615-61

Lin, Ling; Ozaki, Toshinori; Takada, Yuki et al. (2005) topors, a p53 and topoisomerase I-binding RING finger protein, is a coactivator of p53 in growth suppression induced by DNA damage. Oncogene 24:3385-96

Woodard, Geoffrey E; Lin, Ling; Zhang, Jian-Hua et al. (2005) Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Oncogene 24:1272-6

Simonds, William F; Robbins, Christiane M; Agarwal, Sunita K et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89:96-102

Weinstein, Lee S; Simonds, William F (2003) HRPT2, a marker of parathyroid cancer. N Engl J Med 349:1691-2