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.

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El Lakis, Mustapha; Nockel, Pavel; Gaitanidis, Apostolos et al. (2018) Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism. J Am Coll Surg 226:933-938
El Lakis, Mustapha; Nockel, Pavel; Guan, Bin et al. (2018) Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. Surgery 163:31-34
Simonds, William F (2017) Genetics of Hyperparathyroidism, Including Parathyroid Cancer. Endocrinol Metab Clin North Am 46:405-418
Guan, Bin; Welch, James M; Vemulapalli, Meghana et al. (2017) Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism. J Endocr Soc 1:488-499
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
Guan, Bin; Welch, James M; Sapp, Julie C et al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet 99:1034-1044
Li, Yulong; Simonds, William F (2016) Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer 23:R229-47
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
Mehta, Amit; Patel, Dhaval; Rosenberg, Avi et al. (2014) Hyperparathyroidism-jaw tumor syndrome: Results of operative management. Surgery 156:1315-24; discussion 1324-5
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

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