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| ID | Type | Description | Link |
|---|---|---|---|
| 5R01GM114102 | U.S. NIH Grant/Contract | View source | |
| R01CA264248-04S2 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of General Medical Sciences (NIGMS) | NIH |
| The Paradifference Foundation | UNKNOWN |
| National Cancer Institute (NCI) | NIH |
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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic screening | Genetic | Germline and/or tumor samples will be screened for mutations |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of additional, potentially pathogenic genetic variants | Genetic screen detects other mutations with potential pathogenic effects | through study completion- average time approximately 6 months |
| Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Patricia L Dahia, MD,PhD | Contact | 2105674866 | dahia@uthscsa.edu |
| Name | Affiliation | Role |
|---|---|---|
| Patricia L Dahia, MD, PhD | The University of Texas Health Science Center at San Antonio | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Texas Health Science Center | Recruiting | San Antonio | Texas | 78229 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24442145 | Background | 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. |
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Aggregate data will be available in the form of publications and pertinent data will be deposited in public depositories
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Samples from affected individuals will be obtained as:
Samples from unaffected relatives will be obtained as:
Clinical data reveals other features that might associate with the main disease phenotype |
| through study completion- average time approximately 6 months |
| ID | Term |
|---|---|
| D010673 | Pheochromocytoma |
| D010235 | Paraganglioma |
| D009386 | Neoplastic Syndromes, Hereditary |
| D007680 | Kidney Neoplasms |
| D001859 | Bone Neoplasms |
| D013964 | Thyroid Neoplasms |
| ID | Term |
|---|---|
| D018358 | Neuroendocrine Tumors |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D014571 | Urologic Neoplasms |
| D014565 | Urogenital Neoplasms |
| D009371 | Neoplasms by Site |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052801 | Male Urogenital Diseases |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D004701 | Endocrine Gland Neoplasms |
| D006258 | Head and Neck Neoplasms |
| D004700 | Endocrine System Diseases |
| D013959 | Thyroid Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
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