Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
The University of Texas Health Science Center at San Antonio
Summary
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.
Description
Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detect…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * diagnosis of pheochromocytoma and or paraganglioma * family member with diagnosis of pheochromocytoma and or paraganglioma * diagnosis of a pheochromocytoma- and or paraganglioma-associated condition * family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition Exclusion Criteria: * unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
Interventions
- GeneticGenetic screening
Germline and/or tumor samples will be screened for mutations
Location
- University of Texas Health Science CenterSan Antonio, Texas