Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

NCT03160274 | Recruiting DMC

• 3 other identifiers: HSC20060069H5R01GM114102R01CA264248-04S2
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Pheochromocytoma; Paraganglioma; Inherited Cancer Syndrome; Associated Conditions; Kidney Neoplasms; Bone Cancer; Thyroid Neoplasms; Other Cancer

Keywords

tumor suppressor gene; oncogene; mutation; susceptibility gene

Outcome Measures

Primary Outcomes (2)

• Identification of germline driver mutation

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

  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

  through study completion- average time approximately 6 months

Secondary Outcomes (2)

• Identification of additional, potentially pathogenic genetic variants

  through study completion- average time approximately 6 months

• Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease

  through study completion- average time approximately 6 months

Interventions

Genetic screening GENETIC

Germline and/or tumor samples will be screened for mutations

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition

Sponsors & Collaborators

• The University of Texas Health Science Center at San Antonio: lead
• National Institute of General Medical Sciences (NIGMS): collaborator
• The Paradifference Foundation: collaborator
• National Cancer Institute (NCI): collaborator

Study Sites (1)

University of Texas Health Science Center

San Antonio, Texas, 78229, United States

RECRUITING

Related Publications (1)

• 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 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Samples from affected individuals will be obtained as: * DNA from peripheral blood lymphocytes, * DNA from tumor tissue, or * Frozen peripheral blood lymphocytes for nucleic acid purification * Frozen tumor tissue for nucleic acid purification * Lymphoblastoid cell lines, if available * Buccal cells obtained by cheek swab or saliva Samples from unaffected relatives will be obtained as: * DNA from peripheral blood lymphocytes, or * Frozen peripheral blood lymphocytes for nucleic acid purification

MeSH Terms

Conditions

Pheochromocytoma; Paraganglioma; Neoplastic Syndromes, Hereditary; Kidney Neoplasms; Bone Neoplasms; Thyroid Neoplasms

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Kidney Diseases; Urologic Diseases; Male Urogenital Diseases; Bone Diseases; Musculoskeletal Diseases; Endocrine Gland Neoplasms; Head and Neck Neoplasms; Endocrine System Diseases; Thyroid Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Patricia L Dahia, MD, PhD

  The University of Texas Health Science Center at San Antonio

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Patricia L Dahia, MD,PhD

CONTACT

2105674866; dahia@uthscsa.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 30 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 5, 2017
• First Posted: May 19, 2017
• Study Start: October 19, 2005
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: October 15, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)