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Also called: familial glomus tumors, familial nonchromaffin paragangliomas, familial paraganglioma-pheochromocytoma syndromes, hereditary paraganglioma-pheochromocytoma syndromes, hereditary pheochromocytoma-paraganglioma
Hereditary paraganglioma-pheochromocytoma syndrome is a condition in which tumors develop in structures called paraganglia. Paraganglia are bundles of cells of the peripheral nervous system (the nerves outside the brain and spinal cord). A tumor that develops in the paraganglia is called a paraganglioma.
Most paragangliomas are usually found in the head, neck, or torso. A type of paraganglioma called a pheochromocytoma develops in the adrenal glands. The adrenal glands are located on top of each kidney.
There are 2 types of paragangliomas:
Paragangliomas and pheochromocytomas can develop in people without a genetic syndrome. But in families with a history of hereditary paraganglioma-pheochromocytoma syndrome, the risk of developing tumors can be passed from parents to children.
Hereditary paraganglioma-pheochromocytoma syndrome is caused by changes (mutations) in any 1 of a group of genes that includes SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, and MAX. Health care providers should consider a diagnosis of hereditary paraganglioma-pheochromocytoma syndrome for all people with paragangliomas and pheochromocytomas, especially for those who have developed these types of tumors:
Not all of these descriptions will apply to every person with hereditary paraganglioma-pheochromocytoma syndrome. Many people with the syndrome may have only 1 tumor in the head, neck, torso, adrenal gland, or pelvis. Many do not have any family history of similar tumors. The age of onset, number, location, and severity of tumors can be very different, even in families that have a history of the syndrome.
The risk of developing paragangliomas and pheochromocytomas increases as people with the syndrome age. The risk of developing at least 1 tumor if you have the syndrome is:
In many cases, paragangliomas and pheochromocytomas are not cancerous (malignant). Sometimes the tumors do become cancerous and spread to other parts of the body (metastasize). The risk varies greatly among different people with this condition.
Doctors have found 7 types of hereditary paraganglioma-pheochromocytoma syndrome. Each has a different risk profile, and each is related to different genes (shown in parentheses):
People with hereditary paraganglioma-pheochromocytoma syndrome also have a higher risk of developing other types of tumors, including:
The exact tumor risks depend on which of the 7 types of hereditary paraganglioma-pheochromocytoma syndrome a person has.
Paragangliomas and pheochromocytomas can cause symptoms if they release catecholamines (hormones) into the bloodstream. These symptoms may include:
Paragangliomas can also cause symptoms if they become large. These symptoms may include:
Not all patients with hereditary paraganglioma-pheochromocytoma syndrome will have all these symptoms.
Hereditary paraganglioma-pheochromocytoma syndrome is caused by changes (mutations) in 1 of the following genes: SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, and MAX.
Most people without hereditary paraganglioma-pheochromocytoma syndrome carry 2 working copies of each of these genes in their cells. One copy of each gene is inherited from the mother and another from the father. Cells from people with hereditary paraganglioma-pheochromocytoma syndrome have a change in 1 copy of these genes that causes it to not work properly. This gene change is called a mutation. The type of hereditary paraganglioma-pheochromocytoma syndrome someone has depends on which gene has the mutation.
All people with hereditary paraganglioma-pheochromocytoma syndrome have a 50% (1 in 2) chance of passing their gene mutation to their children.
Children who inherit a SDHC, SDHB, SDHA, or TMEM127 gene mutation from either parent will have hereditary paraganglioma-pheochromocytoma syndrome. In most cases, only children who inherit a SDHAF2, SDHD, or MAX mutation from their fathers are at risk of developing paragangliomas or pheochromocytomas.
A health care provider may suspect that your child has hereditary paraganglioma-pheochromocytoma syndrome after studying their medical and family cancer history.
This information helps the health care provider and the genetic counselor know if:
Your provider or genetics counselor may recommend genetic testing if they suspect hereditary paraganglioma-pheochromocytoma syndrome.
Learn more about types of genetic tests.
A blood sample is sent to a genetic testing lab. The lab runs genetic tests that look for changes in the genes related to hereditary paraganglioma-pheochromocytoma syndrome.
If your child has a mutation in 1 or more of these genes, a genetic counselor will work with your family to:
Genetic testing does not always find a mutation in SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, and MAX for all people with hereditary paraganglioma-pheochromocytoma syndrome. A person can still have the syndrome even if no mutations in these genes are found. There are likely to be more, undiscovered genes that play a role in the development of this syndrome.
Parents may choose to do prenatal testing to find out if a pregnancy is affected with a known mutation in SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, or MAX. Testing may take place either before pregnancy occurs or during pregnancy.
You should work with a genetic counselor to review the pros and cons of the test. The genetic counselor can also help you prepare for the test results.
Testing before pregnancy is called preimplantation genetic testing (PGT). This special type of genetic testing is done along with in vitro fertilization (IVF). PGT tests embryos for a known mutation before a provider places the embryo into the uterus.
Testing during pregnancy can help providers see if a pregnancy has a known mutation in SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, or MAX. A doctor gathers cells from the pregnancy in 1 of 2 ways:
After tissue collection, the lab checks the sample for a known mutation in SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, or MAX.
Both tests carry minor risks. Discuss these risks with an experienced health care provider or a genetic counselor.
Take time to think carefully about the benefits and risks of genetic testing. Speak with a genetic counselor before testing. If you decide to get tested, talk with your health care provider or a genetic counselor about your results so you can understand what they mean.
Sometimes, children or adults with hereditary paraganglioma-pheochromocytoma syndrome feel sad, anxious, or angry after getting their test results. Parents may feel guilty if they pass a gene mutation to 1 or more of their children. People with a SDHD, SDHAF2, SDHC, SDHB, SDHA, TMEM127, or MAX gene mutation may also have trouble getting disability or life insurance.
Read more about genetic discrimination.
People with hereditary paraganglioma-pheochromocytoma syndrome should be managed by a health care provider who knows this condition well. Screening is recommended for all people with this condition. The goal of screening is finding and treating tumors early to allow the best outcome for patients.
Screenings usually begin between ages 7–9. If other family members have the syndrome, screenings should begin at least 10 years before the earliest date that tumors developed in those family members.
We recommend the following screenings for children with hereditary paraganglioma-pheochromocytoma syndrome:
These recommended screenings may change over time as health care providers learn more about hereditary paraganglioma-pheochromocytoma syndrome. Discuss all screening options for your child with a health care provider who knows this condition well.
Because hereditary paraganglioma-pheochromocytoma syndrome is a complex condition, it is important to seek an experienced health care provider for your child.
People of any age with hereditary paraganglioma-pheochromocytoma syndrome have a higher risk of cancer. They should monitor their health and adopt healthy habits throughout life. It is important to continue to have regular physical checkups and screenings. That way, any cancer can be found early at the most treatable stage.
People with hereditary paraganglioma-pheochromocytoma syndrome should watch closely for general signs or symptoms that could signal cancer:
It is important to seek medical help if anything unusual appears.
Habits that will help you maintain a healthy lifestyle include:
The St. Jude Cancer Predisposition Program is dedicated to diagnosing and screening children with a genetic predisposition for cancer. Our program offers the best clinical care possible. We engage in cutting-edge research to gain more information about genetic disorders and cancer, and to improve the care and treatment for patients who are affected by these conditions. Learn more about the Division of Cancer Predisposition at St. Jude.
Our genetic counselors, clinicians, genetics nurse practitioners, and research assistants work together to provide patients with:
Hereditary paraganglioma-pheochromocytoma syndrome increases your child’s risk for many types of cancer.
St. Jude offers clinical trials and cancer research studies for children, teens, and young adults who have cancers linked to hereditary paraganglioma-pheochromocytoma syndrome. See diseases treated at St. Jude. Learn more about clinical research at St. Jude
Study goal:
To learn more about participants beliefs, attitudes, and questions about gene therapy to help make web-based resources to share information. This could help patients make treatment decisions.
Age:
18 to 35 years old with rare genetic diseases
Study goal:
The main goal of this study is to learn more about the reasons childhood tumors form and how to treat them better.
Study goal:
To provide a high-quality repository of tumor and normal samples to facilitate translational research performed by St Jude faculty and their collaborators
Study goal:
1) Test each patient for hundreds of gene variations that might be important for drug use. All of the gene test results will be in the research laboratory, but as time goes on, the study will evaluate scientific evidence and selectively move test results for a few genes into the medical record if the evidence strongly shows that the result can help in better prescribing of drugs for patients; 2) Estimate how often pharmacogenetic test results are moved from research tests into a patient’s medical record; 3) Use methods to choose which of these tests should be put in the medical record; 4) Use computer-based tools in the electronic medical record to help doctors use gene test results when prescribing drugs; 5) Share feelings and concerns of patients and their families about gene test information being put in their medical record.
Study goal:
The main purpose of this trial is to learn about the genetic causes of cancer.
Age:
Younger than 50 years old
Study goal:
To collect data about how Friedreich’s ataxia progresses over time and affects the daily life of patients.
Age:
Any
Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.
Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local) | Fax: 901-595-4011 | Email: referralinfo@stjude.org | 24-hour pager: 1-800-349-4334
If you have questions about the Genetic Predisposition Clinic and care for hereditary paraganglioma-pheochromocytoma syndrome, email our team at GPTeam@stjude.org.