Paraganglioma and Pheochromocytoma

Paragangliomas and pheochromocytomas are tumors that develop out of the neuroendocrine tissue responsible for making epinephrine. This hormone, also known as adrenaline, and other related hormones help regulate heart rate and blood pressure in response to stress. Paragangliomas, known as PGLs, can develop anywhere in the body from the pelvis to the skull. Some release hormones that are similar to adrenaline and others do not.

Pheochromocytomas (PCCs) are found specifically in the adrenal gland where adrenaline is produced. PCCs secrete epinephrine and norepinephrine hormones. PCCs and PGLs are rare and often slow growing. Most are benign but can cause problems such as high blood pressure, sweating, and headaches when they produce hormones. Many are associated with genetic or inherited conditions. Hereditary paraganglioma-pheochromocytoma is an inherited condition that occurs when benign tumors grow in the paraganglia.

The symptoms of paraganglioma/pheochromocytoma (PCCs and PGLs) may vary from child to child and depend on where the tumor is located and whether it produces hormones. Symptoms might mimic other, more common ailments.

For PCCs/PGLs, the most common symptoms are:

• High blood pressure
• Rapid pulse
• Heart palpitations
• Headache
• Dizziness
• Poor weight gain despite good appetite
• Abdominal pain
• Nausea
• Vomiting
• Pale skin
• Clammy skin
• Sweating
• Growth failure

Because many of these symptoms can also point to other conditions, it’s important to have your child diagnosed by a qualified medical professional right away.

Sometimes, tumors emerge with no known cause. Some result from a mix of genetic and environmental factors, while others are linked to inherited conditions.

Examples of conditions associated with PGLs and PCCs include hereditary paraganglioma-pheochromocytoma syndrome, neurofibromatosis, von Hippel-Lindau disease, multiple endocrine neoplasia syndromes, tuberous sclerosis, Sturge-Weber syndrome, and ataxia-telangiectasia.

The first step in treating your child is forming an accurate and complete diagnosis. Your child’s physician may order a number of different tests including:

• Physical exam and complete medical history
• Blood and urine tests
• Biopsy
• Magnetic resonance imaging (MRI)
• Computerized tomography scan (CT/CAT scan)
• Molecular testing to determine whether the tumor is linked to specific genes

There may be other diagnostic tests that your doctor will discuss with you depending on your child's individual situation. After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then, we will meet with you and your family to discuss the results and outline the best possible treatment options.

Treatment for paraganglioma or pheochromocytoma will depend on the location and type of your child’s tumor. Your child's doctor may recommend surgery including a biopsy, laparoscopy, or thoracoscopy. Sometimes before removing a pheochromocytoma, your child’s physician may prescribe medicine to control high blood pressure. There are also some newer agents that are being investigated to reduce the need for big surgeries for advanced paragangliomas.

Children with PGLs and PCCs are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Endocrine-Oncology Program. Our integrated pediatric oncology service offers — in one specialized program — the combined expertise of a leading cancer center and a premier children’s hospital. We build a team to treat your child consisting of oncologists, endocrinologists, genetic counselors, and surgeons.

Children who are treated through our Endocrine-Oncology Program benefit from the work of our basic and clinical researchers, who are striving to understand the scientific causes of endocrine cancers. Their work can result in the introduction of new treatment options. We are a world leader in translational research, bringing laboratory advances to the bedside and into doctors’ offices as quickly as possible.

Clinical trials for PGLs and PCCs

Clinical trials, or research studies evaluating new treatment approaches, are a major offering at Dana-Farber/Boston Children’s. For many children with rare or hard-to-treat conditions, clinical trials provide new options.

It’s possible that your child will be eligible to participate in one of our clinical trials. In addition to launching our own clinical trials, we also offer trials available through collaborative groups such as the Children's Oncology Group (COG). If your child has a progressive or recurrent tumor, she may be eligible for a number of experimental therapies available through these groups, or from one of our independent clinical investigators.