Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Introduction

• Org Study ID: HSC20060069H
• NTC ID: NCT03160274
• Lead Sponsor Name: The University of Texas Health Science Center at San Antonio
• Status: RECRUITING

Conditions

• Familial Kidney Cancers

Brief 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.

Eligibility Criteria

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