Dialog Box

Children's Tumour Foundation

GPs & Healthcare Professionals

This information is designed to give General Practitioners (GPs) and other healthcare professionals some important tools to assist your NF patients to access the support they need. 


DIAGNOSTIC CRITERIA


Neurofibromatosis Type 1 (NF1)

A diagnosis of NF1 is usually made clinically through medical examination of the body as this is considered most reliable. However, more and more frequently diagnosis is made through a blood test in which the NF1 gene is analysed for changes (for more information head to What causes NF?)  

To receive a clinical diagnosis of NF1 an individual must have at least two of the following diagnostic criteria:  

  • A first degree relative with NF1 (mum, dad, brother or sister). 

  • 6 or more Café-au-lait marks (CALs) which are 5 mm or larger in pre-pubertal children, or 15 mm or larger for anyone who has passed through puberty.  

  • Freckling under the arms (axillary) or in the groin area (inguinal)

  • Presence of two or more neurofibromas of any type or one or more plexiform neurofibromas.

  • Two or more benign pigmented lumps on the iris (Lisch Nodules).

  • A distinctive bony lesion: long bone or sphenoid wing dysplasia.  

  • Optic Pathway Glioma (OPG).

Neurofibromatosis Type 2 (NF2) 

There are two sets of clinical diagnostic criteria for NF2. These were created by the National Institute of Health (NIH) Consensus and the second by the Manchester group.  

The NIH guidelines require you to have:  

The Manchester guidelines take into account not having a family history of the condition:  

Bilateral Vestibular Schwannoma


Schwannomatosis  

Schwannomatosis is more complicated than the other forms of NF and so it follows that diagnosis is not so easy either.  

The diagnostic criteria for this condition is still open for discussion, however, suggested guidelines were put forward in 2005. This condition is generally diagnosed clinically as the genetic basis for the condition remains somewhat uncertain. 

To receive a diagnosis of Schwannomatosis someone must be over 30 years of age and meet one of the two criteria paths below: 

Discussions have revealed that perhaps these criteria are not quite adequate and so the below has also been proposed as additional diagnostic criteria: 


Check out the Understanding NF section of the website for more information on the signs, symptoms and treatments.  



RESOURCES FOR HEALTHCARE PROFESSIONALS


Some Australian resources have been developed to assist in managing patients with these conditions. You may find the links below useful: 

SCHWANNOMATOSIS

Schwannomatosis

National Institute of Health US National Library of Medicine, 2020 

The International Schwannomatosis Database provides a centralised hub to link families and researchers together to assist the facilitation of research and clinical trials aimed to improve the health and support of those impacted by this rare genetic condition.



NF CLINICAL SYMPOSIUM


In March 2020, over 100 of Australia’s leading NF researchers and clinicians came together to enhance their knowledge of the condition.  

The International Keynote Speaker was Professor Michael Fisher from the Children’s Hospital of Philadelphia (CHOP). The Symposium was attended by medical specialists, geneticists, researchers, paediatricians and allied health professionals.

DOWNLOAD PROGRAM

If you would like any additional information on any of these presentations, please contact the Support Team on 02 9713 6111. The CTF aims to hold a Clinical Symposium every 2 years.

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