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.
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
unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
Individuals must have confirmed personal or family history of pheochromocytoma, paraganglioma or associated conditions. Relatives of patients with pheochromocytoma and/or paraganglioma are also eligible. Consent form will be obtained from all patients. It is expected that a number of participants in the study will be from outside our institution and also outside U.S.
Cohort
Other
Genetic screening
GeneticGermline and/or tumor samples will be screened for mutations
Identification of germline driver mutation
Genetic screen detects a mutation that is likely responsible for tumor development
Identification of somatic driver mutation
Genetic screen detects a mutation that is likely responsible for tumor development
Identification of additional, potentially pathogenic genetic variants
Genetic screen detects other mutations with potential pathogenic effects
Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease
Clinical data reveals other features that might associate with the main disease phenotype
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The University of Texas Health Science Center at San Antonio
Lead sponsor
National Institute of General Medical Sciences (NIGMS)
Collaborator
The Paradifference Foundation
Collaborator
National Cancer Institute (NCI)
Collaborator
