Cancerify Logo
Log inSign up
Back to clinical trials
RecruitingObservational

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

NCT ID: NCT03160274Sponsor: The University of Texas Health Science Center at San AntonioLast updated: 2025-10-15

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.

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.

Arms & interventions

  • GeneticGenetic screening

    Germline and/or tumor samples will be screened for mutations

Outcome measures

Primary

  • Identification of germline driver mutation

    Genetic screen detects a mutation that is likely responsible for tumor development

    Time frame: through study completion- average time approximately 6 months

  • Identification of somatic driver mutation

    Genetic screen detects a mutation that is likely responsible for tumor development

    Time frame: through study completion- average time approximately 6 months

Secondary

  • 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

Sex: AllAge: All agesHealthy 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

Study locations (1)

University of Texas Health Science Center

San Antonio, Texas, 78229

Recruiting
Patricia L Dahia · Contact
210-567-4866dahia@uthscsa.edu

References

  • 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.(PubMed)