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2021 NF1 Diagnostic Criteria Update

2021 NF1 Diagnostic Criteria Update

An update of the diagnostic criteria for neurofibromatosis type 1 has just been published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics. This is an update to the original diagnostic criteria that was established at the National Institutes of Health (NIH) in 1987. The new criteria are the result of years of work and collaboration of over 90 neurofibromatosis (NF) experts from around the world.

The goal of the new criteria is to allow for earlier and more accurate diagnosis of NF1, leading to improved care. Publication of new criteria for neurofibromatosis type 2 and schwannomatosis is planned for late this year.

We have highlighted the changes to the NF1 diagnostic criteria below. The Children’s Tumor Foundation (CTF) has also provided a helpful infographic and diagnostic comparison. You may also read the full publication here.

ORIGINAL DIAGNOSTIC CRITERIA (1988)UPDATED DIAGNOSTIC CRITERIA (2021)
A diagnosis of NF1 can be given if an
individual has two or more of the following
manifestations:
• Six or more café-au-lait macules
(brown skin spots)
» greater than 5mm in pre-pubertal
children
» greater than 15mm in post-pubertal
individuals
• Freckling in axilla (armpit) or groin
• Two or more neurofibroma tumors
of any type, or one plexiform
neurofibroma
• Two or more iris Lisch nodules
(iris hamartomas)
• Optic glioma
• A distinctive bony lesion: dysplasia
(abnormal growth) of the sphenoid
bone behind the eye, or dysplasia of
long bones, often in the lower leg
• Having a close relative (parent, sibling,
or child) with NF1


A diagnosis of NF1 can be given if an
individual has two or more of the following
manifestations:
• Six or more café-au-lait-macules*
(brown skin spots)
» greater than 5mm in pre-pubertal
children
» greater than 15mm in post-pubertal
individuals
• Freckling in axilla (armpit) or groin*
• Two or more neurofibroma tumors
of any type, or one plexiform
neurofibroma
• Two or more Lisch nodules or two or
more choroidal abnormalities

• Optic pathway glioma (tumor of the
visual pathway)
• A distinctive osseous lesion such as:
sphenoid dysplasia; anterolateral
bowing of tibia (tibial dysplasia); or
pseudarthrosis of a long bone

A pathogenic NF1 gene variant **
• A parent with NF1 by the above criteria
*At least one of the two pigmentary findings (café-au-lait
macules or freckling) should be bilateral.

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