Juvenile Nasopharyngeal Angiofibroma

What are the symptoms of JNA?

In the early stages of the disease, patients with juvenile nasopharyngeal angiofibroma might not show any symptoms. As the tumor expands, however, the following symptoms may develop:

• difficulty breathing through the nose (due to airway obstruction)
• nosebleeds
• headaches
• double vision and other cranial nerve signs or symptoms if the tumor has expanded significantly

Patients rarely feel any significant pain.

What causes juvenile nasopharyngeal angiofibroma?

Scientists do not fully understand what causes JNA. Although it is not hereditary, children with family members who have familial adenomatous polyposis are slightly more likely to have JNA. Because the disease presents predominantly in adolescent boys, some studies have explored hormonal influences in JNA, but these studies have not been conclusive.

How do we diagnose JNA?

There are several diagnostic procedures that may be used to determine whether your child has JNA. In addition to a complete medical history and physical examination, these may include:

• Endoscopic evaluation: Physicians will use an endoscopic (a flexible or rigid telescope like device, often attached to a camera, inserted into the nose) to determine the presence of the JNA and its degree of nasal airway obstruction. This is typically performed in the Otolaryngology clinic.
• Magnetic resonance imaging (MRI): a diagnostic imaging exam involving a large magnet, radio waves, and a computer to produce two- and three-dimensional images of predominantly the body's soft tissue organs.
• Computerized tomography scan (also called CT or CAT scan): This imaging technique uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically. CT scans provide greater detail of the body’s bony structures.
• Pathology: Usually the combination of endoscopic evaluation, CT scan, and MRI is sufficient to make the diagnosis of JNA. Rarely, your child’s doctors may also need to obtain a biopsy to confirm the diagnosis.

After the necessary tests are completed, our experts meet to review and discuss what they have learned about your child's condition. They then meet with you to discuss the results and outline the best treatment options for your child.

How we treat juvenile nasopharyngeal angiofibroma

First-line therapy is usually surgery, with the goal of removing as much of the tumor as possible. Ideally the entire tumor is removed. In some situations, depending on where the tumor has spread, complete removal may not be possible.

The initial treatment of JNA has two components:

• Angiographic embolization by interventional radiologists. This is used immediately before surgery to close off the blood vessels that supply the tumor in order to limit blood loss during surgery.
• Surgery to remove the tumor. This surgery is often done endoscopically — minimally invasive surgery performed through the nose guided by a special telescope (endoscope) and your child’s pre-operative imaging studies. If the tumor is localized (not spread far beyond the nasal cavity), this can be accomplished in one surgery. However, if the tumor has expanded significantly, multiple surgeries may be required. If it has impacted the brain, neurosurgeons will also be involved. Surgery for JNA is very complex due to where the tumor is located, and it should be done by a surgeon with specific expertise in this type of surgery.

Sometimes surgeons will not be able to remove the entire tumor, such as when the tumor has expanded into the cranial cavity and is impacting the brain or carotid artery. In such instances, remnants (pieces) of tumor tissue will remain. Because it’s possible for these tumor remnants to regrow, your treatment team will discuss additional therapies to treat this residual disease with you and your child.

This additional therapy may include angiogenesis inhibitors, medications that inhibit the growth of new blood vessels. Sometimes, these medications can shrink the JNA tumor sufficiently to allow surgeons to further resect (surgically remove) the tumor. Other times, the patient will need to continue to take the medications until the disease resolves in early adulthood.

Radiation therapy is very rarely considered, as radiation, particularly so close to the brain, can have long term side effects. Medications can often control the disease with fewer side effects than radiation.

Follow-up treatment

Even if the patient’s tumor is fully removed during surgery, there is the possibility a new tumor may occur. For this reason, patients with JNA will need to have annual follow-up appointments, during which doctors will perform endoscopic examinations and take new imaging scans to monitor for possible recurrence.

If the tumor cannot be fully resected and adjuvant therapy is required, more frequent visits with a hematologist/oncologist will be necessary to monitor blood work, assess for side effects, and adjust medication dosages as needed. These visits will be in addition to the endoscopic examinations and periodic imaging studies mentioned above.

If your child is not able to return to Boston for follow-up care, our doctors can partner with physicians in your local area for such monitoring.

What is the long-term outlook for children with JNA?

Although JNA is a complex condition, the long term outcome is usually very positive. There could be side effects from surgical or medical treatment, but these are minimized by an experienced multidisciplinary team. JNA should not ever be fatal.

How we care for juvenile nasopharyngeal angiofibroma

Due to the complexity of juvenile nasopharyngeal angiofibroma, children with JNA are treated at Boston Children’s Hospital by an integrated multidisciplinary team to address all aspects of the disease. Your first visit and primary team will be located in Otolaryngology. However, your full treatment team will include a wide range of experts, including specialists from Interventional Radiology and hematology/oncology specialists within the Vascular Anomalies Center and the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. A neurosurgeon may also be involved.

Although we are a pediatric center, patients with JNA are monitored and treated at Boston Children’s into early adulthood until recurrence risk or the disease itself has resolved.

Our multidisciplinary team is also conducting research to determine the molecular underpinnings of JNA. We hope to someday discover what causes the disease and to determine whether targeted therapies might be used to treat JNA.

Juvenile nasopharyngeal angiofibroma is an enigma to physicians and scientists. Nobody yet understands why this disease appears almost always in adolescent boys — or why it disappears when those patients reach their 20s and 30s.

To better understand JNA, the physician scientists in our programs are currently conducting a study involving whole exome sequencing of patients with JNA. Whole exome sequencing can help provide insights into complex diseases by finding common genetic variants (mutations) shared between the individuals with the disease. Once the specific mutations are discovered, it may then be possible to develop drugs that can counteract those mutations. Ultimately, someday we may be able to treat the disease without needing surgery.

The whole exome sequencing study is being performed primarily to increase scientific knowledge. However, if an individual’s test reveals information that could be of clinical benefit, those results will be returned to the referring physician for discussion with you and your child.