Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
| Status: | Recruiting |
|---|---|
| Conditions: | Cancer, Cancer, Cancer, Cancer, Brain Cancer, Lymphoma |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/24/2018 |
| Start Date: | October 19, 2005 |
| End Date: | December 31, 2030 |
| Contact: | Patricia L Dahia, MD,PhD |
| Email: | dahia@uthscsa.edu |
| Phone: | 2105674866 |
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.
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.
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.
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
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