Our Neurofibromatosis Clinics

Our Neurofibromatosis Clinics

Our Neurofibromatosis (NF) clinics

The Neurofibromatosis clinic at Royal North Shore Hospital uses a consultative approach, providing diagnostic and management advice to people with NF and their doctors. Appointments may be offered by phone, videoconference, or face to face, depending on the patient and their medical issues. Wherever possible we support local care with your GP or specialists. This may include a one-off appointment or a series of appointments where needed.

People who may benefit from an appointment at the RNSH NF clinic could include:

Where the diagnosis is unclear despite consultation with a relevant specialist (e.g., local Genetics service or Neurologist/ Neurosurgeon)
Where advice is needed on the best approach to manage a specific complication related to NF
Where there are complex issues that cannot be managed locally

An NF1 skin clinic is also available for treatment of neurofibromas on the skin.

Our Neurofibromatosis Clinic is led by A/ Professor Yemima Berman. The clinic staff includes doctors (clinical geneticists, neurologists, dermatologists) with experience in treating diseases and conditions of the nervous system and the skin, all working together with genetic counsellors and clinical nurse specialists.

Please see the referral criteria for more information about appropriate indications for referral.

PDF icon Referral Criteria for RNSH NF clinic

Is the appointment for a child?

The Neurogenetics Clinic at the Children’s Hospital Westmead provides comprehensive clinical care for children with complex Neurofibromatosis Type 1 and Neurofibromatosis Type 2. Please see the link for further information on this clinic and how to make a referral: https://www.schn.health.nsw.gov.au/find-a-service/health-medical-services/neurogenetics/chw

Neurofibromatosis type 1 Skin Clinic

The NF1 skin clinic at Royal North Shore Hospital provides individuals with NF1 skin concerns the opportunity to receive treatment of neurofibromas or issues of concern with the skin.

PDF icon NF1 Skin clinic flyer

Neurofibromatosis Breast Screening Clinic

The Neurofibromatosis breast screening clinic at Royal North Shore Hospital coordinates breast cancer screening for women with Neurofibromatosis type 1 between the ages of 30 and 50 years old.

PDF icon NF1 breast screening brochure

Please see the referral criteria for more information about appropriate indications for referral.

PDF icon RNSH NF Referral Criteria

Women with NF1 have a higher risk of getting breast cancer at a younger age than someone without NF1. For this reason, national standards recommend that women with NF1 take part in yearly breast screening from the age of 30. The Neurofibromatosis breast screening clinic at Royal North Shore Hospital coordinates breast cancer screening for women with Neurofibromatosis type 1 between the ages of 30 and 50 years old.

NF1 Breast MRI screening criteria

To read more about the purpose and procedures involved in early breast screening for women with NF1, please see our PDF icon NF1 Breast Screening Flyer.

See our video and FAQs below to find out more information.

Frequently Asked Questions

This information is

For women with neurofibromatosis type 1 (NF1)
To help you decide whether breast screening is right for you
To explain the tests that are involved

Having NF1 puts you at an increased risk of breast cancer. However, most women with NF1 will not develop breast cancer.

Breast screening is recommended every year from age 30. That way if you do have breast cancer it will be found early. This will give doctors the best chance of treating it.

Below are a number of frequently asked questions (FAQs), responses and links to further information about breast screening for women with NF1.

Why should I have breast cancer screening?

Having NF1 puts you at an increased risk of breast cancer.
For women with NF1 age 30-39, the estimated 10 year risk of breast cancer is 2.8%, this is compared to 0.45% for women the same age without NF1.

For women with NF1 age 40-49, the estimated 10 year risk of breast cancer is 7.25%, this is compared to 1.7% for women the same age without NF1.

For this reason, breast screening in young women with NF1 is recommended every year from age 30.
Screening helps find cancer early if it is present.
This will give doctors the best chance of treating it.

Breast screening is not recommended if you have a new change or lump in your breast. See your doctor as soon as possible in this case.

How is breast cancer screening done?

Screening might include:

Clinical Breast Exam
Mammogram
Magnetic Resonance Imaging (MRI)
Ultrasound

Depending on your results, you may also have a biopsy.

Your specialist doctor and team will let you know what to expect. We will also explain breast-self-awareness.

What is a clinical breast exam?

A clinical breast exam is carried out by a doctor.

Your doctor will examine your breasts to look for and feel for any worrying lumps.
This may be done before or after your other breast screening tests.

What is a mammogram?

A mammogram takes an X-ray of the inside of your breasts.
Each breast is pressed between two X-ray plates, which spread the breast so clear pictures can be taken.
This can be uncomfortable but only takes a short time.
Both breasts will be checked during a mammogram.

For more information about mammogram

Diagnostic methods - mammogram External Link

Screening mammography External Link

Video about breast mammograms External Link

What is a breast MRI?

An MRI is is helpful because breast tissue can be dense in younger women.
When you are booking your MRI, the staff may ask about your menstrual cycle. This is so the MRI can be done at a time in your cycle when the images are easiest to interpret.
Before your MRI you will need to change into a gown. You will also need to remove any metal jewellery.
An MRI uses a magnet and radiowaves to take pictures of the inside of your breasts.
You will be given a dye through a drip to help see if there are any lumps in your breasts.
During the MRI you need to lie still on the MRI bed on your stomach.
The machine can be noisy.
You will be able to talk with the clinic staff at all times during your scan.
The MRI scan takes about 45-60 minutes.
An MRI is a detailed way of looking at your breasts.

MRI image Mamogram Image

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As you can see in the MRI image (above) there are neurofibromas on the skin (white arrow). There are no neurofibromas inside the breasts (yellow arrow).
One of the reasons MRI is used more often in young women with NF1, is that young women have dense breasts. This makes mammograms less accurate at finding abnormalities.

What is an ultrasound?

An ultrasound uses a handheld scanner placed on your breast.
An ultrasound uses soundwaves to take pictures of the inside of your breasts.
The clinic staff put a gel on your skin while using the scanner.
The gel might feel cold, but it is painless.
It takes about 30 minutes to take the ultrasound pictures.

For more information about ultrasound

What is breast self-awareness?

It is recommended to know the normal look and feel of your breasts.

There's no right or wrong way to check your breasts.
Look at and feel your breasts regularly.
Check all parts of your breast, your armpits and up to your collarbone.
When you check your breasts, try to be aware of any changes that are different for you.

What do I look for?

A lump, lumpiness or thickening of the breast.
Changes in the skin of a breast, such as dimpling or a rash.
Persistent or unusual breast pain.
A change in the shape or size of a breast.
Discharge from a nipple, a nipple rash or a change in its shape.
If you find any other these things, please see your doctor as soon as possible.
Neurofibromas on the skin surface are not breast cancer.

What if I find a change?

If you find a change, don't delay, see your doctor.
Most breast changes are not likely to be breast cancer; but need to be checked.

What if I find a lump in my breast?

If you find a lump in your breast you should contact your doctor as soon as possible.
You will likely have a breast examination and be referred for a mammogram, ultrasound and biopsy.
You may need to see a breast specialist
Most breast lumps are not cancer, particularly in younger women.
If you've found a breast lump, this is not suitable for breast screening.

For more information on breast self-awareness

Cancer Australia - Breast cancer awareness

Cancer Council Australia - Early detection of breast cancer

Why so many tests?

You may have one or more tests to screen for breast cancer.
Each test gives different information so you and your doctor can make the best decisions about your breast health.
If you are 50 or over, a mammogram every 2 years is usually enough.
Your doctor may make other suggestions that are specific to you.

What if I need a biopsy?

1 in 3 women may need further investigation after their first breast cancer screening.

1 in 6 women may need further investigation after their subsequent breast cancer screening

If any worrying lumps are found inside your breasts your doctor may need to remove a small sample. This is called a biopsy.
The doctor will look at the sample under a microscope and decide what it is.
Needing a biopsy does NOT mean that you have cancer.
Most lumps are not cancer, they are considered benign.

How is a biopsy done?

The doctor will use an ultrasound scanner to find the lump.
To take a biopsy the doctor will use a local anaesthetic to numb the skin. This is to make the procedure more comfortable but may sting for a short time.
Once the area is numb a needle is used to take a small sample of the lump.
The biopsy itself usually takes a few minutes. The procedure takes about 30 minutes.
The biopsy results may take a number of days to come back.
Some women find waiting for the results worrying.
It is important to remember most lumps are not cancer.
If you would like to talk to someone, please see the section "Who can I talk to?" below.

What happens after screening?

Everyone who has screening will have an appointment to discuss results.
Having an appointment does NOT mean that you have cancer.
Your doctor will decide when you should come back for your next screening or if further tests are needed.
If you notice any changes in your breast before your next screening, speak to your GP or doctor.

Who can I talk to?

Some people will feel safe knowing they are having breast screening. Others might worry about the results.
If you have any concerns or questions, speak to:

The doctor who arranged your breast screening
A genetic counsellor
Your GP
A psychologist
The Children's Tumour Foundation 02 9713 6111 or support@ctf.org.au

Where can I get more information?

Information for health professionals

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