Recommendations

Human Genetics Society of Australasia

1.
Don’t use brain magnetic resonance imagery (MRI) for routine surveillance of asymptomatic neurofibromatosis type 1

Neurofibromatosis type I (NF-1) is a tumour disorder caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division. It causes tumours along the nervous system that can grow anywhere in the body. Routine screening investigations are not recommended for the detection of the majority of complications associated with the condition. Baseline brain and spine MRI, and routine imaging of the chest and abdomen to identify asymptomatic tumours, do not influence management and should not be undertaken.

Supporting evidence

Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics 2007;44:81-8.

How this list was made How this list was made

A preliminary list was developed by the Lead Fellow which was then distributed to all the clinical geneticists in Australia who are all members of the Australasian Association of Clinical Geneticists (AACG), a special interest group of the HGSA. Following feedback the topic was revisited at a meeting of this group during the annual scientific conference of the HGSA, after which the list was finalised.