The purpose of this study is the clinical characterization of individual patients 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, culture and testing of isolated peripheral blood leukocytes, 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.

Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2012
Total Cost
$247,322
Indirect Cost
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State
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Nilubol, Naris; Weinstein, Lee S; Simonds, William F et al. (2016) Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure. Ann Surg Oncol 23:416-23
Sadowski, Samira M; Millo, Corina; Cottle-Delisle, Candice et al. (2015) Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. J Am Coll Surg 221:509-17
Li, Yulong; Simonds, William F (2015) Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer 23:R229-47
Mehta, Amit; Patel, Dhaval; Rosenberg, Avi et al. (2014) Hyperparathyroidism-jaw tumor syndrome: Results of operative management. Surgery 156:1315-24; discussion 1324-5
Weisbrod, Allison B; Nilubol, Naris; Weinstein, Lee S et al. (2013) Association of type-O blood with neuroendocrine tumors in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 98:E109-14
Nilubol, Naris; Weisbrod, Allison B; Weinstein, Lee S et al. (2013) Utility of intraoperative parathyroid hormone monitoring in patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism undergoing initial parathyroidectomy. World J Surg 37:1966-72
Simonds, William F (2012) A new look at vitamin D metabolism and "idiopathic" hypercalcemia. J Clin Endocrinol Metab 97:384-6
Simonds, William F; Varghese, Sarah; Marx, Stephen J et al. (2012) Cushing's syndrome in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf) 76:379-86
Yavuz, Sahzene; Simonds, William F; Weinstein, Lee S et al. (2012) Sleeping parathyroid tumor: rapid hyperfunction after removal of the dominant tumor. J Clin Endocrinol Metab 97:1834-41
Nilubol, Naris; Weinstein, Lee; Simonds, William F et al. (2012) Preoperative localizing studies for initial parathyroidectomy in MEN1 syndrome: is there any benefit? World J Surg 36:1368-74

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