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Gene Variants in Pheochromocytoma and Paraganglioma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Karel Pacak, MD, PhD,  
Project

About This Dataset
Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors that arise from chromaffin cells in the adrenal medulla and in extra-adrenal locations, respectively. PPGL has the strongest hereditary risk of all endocrine neoplasms with about 40% of cases harboring germline mutations and another 25-30% of cases arising from somatic mutations. To date, over 20 susceptibility genes have been suggested to play a role in PPGL pathogenesis, with more genes still being researched. This project will seek to identify new candidate genes in apparently sporadic PPGLs to reveal a possible genetic background in cases without variants in known susceptibility genes. Knowledge of the genetic background and the genes involved in the pathogenesis of PPGL allows for clustering and/or development of targeted therapies for the tumors that cannot be surgically resected or tumors that have metastasized.
Core Data Elements
Number of Cases
16
Case Sex
Female (9); Male (7)
Case Age At Diagnosis
10 to 14 years (1); 20 to 24 years (1); 25 to 29 years (3); 30 to 34 years (2); 35 to 39 years (2); Greater than 39 years (7)
Case Race
Asian (2); Black or African American (6); More Than One Race (1); White (6); Unknown (1)
Case Ethnicity
Not Reported (16)
Case Disease Diagnosis
Pheochromocytoma and Paraganglioma (16)
Number of Samples
23
Sample Anatomic Site
Adrenal Gland (3); Blood (16); Carotid Body (1); Kidney (1); Retroperitoneum (2)
Sample Is Normal
Yes (16); No (7)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
Z1AHD008735
Intramural Research Program of the NIH
Charts
Female (9); Male (7)
9Female