Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genetic screening.
- Who it may be relevant to
- Registry conditions: Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed 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, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.
The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.
The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.
Interventions
- Genetic Genetic screening
Germline and/or tumor samples will be screened for mutations
Primary outcome measures
- Identification of germline driver mutation [Time frame: through study completion- average time approximately 6 months]
- Identification of somatic driver mutation [Time frame: through study completion- average time approximately 6 months]
Secondary outcome measures (2)
- Identification of additional, potentially pathogenic genetic variants [Time frame: through study completion- average time approximately 6 months]
- Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease [Time frame: through study completion- average time approximately 6 months]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- University of Texas Health Science Center — San Antonio
Publications
- Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014 Feb;14(2):108-19. doi: 10.1038/nrc3648. Epub 2014 Jan 20. PMID 24442145
Identifiers
NCT: NCT03160274 · HSC20060069H · 5R01GM114102 · R01CA264248-04S2