Learn About Hereditary Paraganglioma-Pheochromocytoma Syndrome

What is the definition of Hereditary Paraganglioma-Pheochromocytoma Syndrome?

Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.

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What are the causes of Hereditary Paraganglioma-Pheochromocytoma Syndrome?

Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4.

How prevalent is Hereditary Paraganglioma-Pheochromocytoma Syndrome?

Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 million people.

Is Hereditary Paraganglioma-Pheochromocytoma Syndrome an inherited disorder?

Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells.

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What are the latest Hereditary Paraganglioma-Pheochromocytoma Syndrome Clinical Trials?
Familial Investigations of Childhood Cancer Predisposition
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
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Who are the sources who wrote this article ?

Published Date: November 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Hereditary Paraganglioma-Pheochromocytoma Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.