Abstract

The purpose of this study is the clinical and genetic characterization of individual patients and kindreds with parathyroid cancer, germline CDC73 loss of function mutation, FIHP, and HPT-JT with the goals of defining the clinical spectrum of disease, searching for potential genotype-phenotype correlations relevant to mutation of known genes, and identifying new genes whose germline mutation predisposes to FIHP and related syndromes. 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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIADK043012-17
Application #
9773536
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
17
Fiscal Year
2018
Total Cost
Indirect Cost

  Institution

Name
U.S. National Inst Diabetes/Digst/Kidney
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

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
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

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