NF1
>90% of individuals 20 years or older with NF1 have them
What are Lisch Nodules
NF2 patients sometimes get unilateral or bilateral vestibular schwannomas (tumors on the nerve connecting the inner ear to the brain). After surgery to preserve hearing loss, this is one assistive device that may be helpful
What is a hearing aid
Optic pathway glioma and 2 Lisch nodules
What is NF1
The type of inheritance shared by both NF1 and NF2
What is AD
Flat, pigmented skin spots that are the color of a popular caffeinated drink —> Like the Patti Labelle classic, one feature of NF1 includes spots of this color
What are Cafe-au-laits
The body is full of natural wonders, including this magical protein encoded by the gene NF2.
What is Merlin?
Bilateral vestibular schwannomas
what is NF2
These two treatments might be used to control the growth of tumors that cannot be removed with surgery
What are radiation and/or chemotherapy
This is one reason why NF1 patients may elect to have plastic surgery
What are neurofibromas
non-cancerous tumors that grow on the two vestibular nerves
What are Bilateral vestibular schwannomas
3 meningiomas, a Unilateral vestibular schwannoma, and a mother with NF2
What is NF2
Common psychiatric comorbidities associated with either NF1 or NF2
Every city has its hot spots, and genes are no exception. In NF1, several exons are more likely to be home to pathogenic variants than others. Name at least one of them
What is Exon 3 OR 5 OR 27.
A common drug used for NF2 patients that is related to stabilizing or shrinking tumors
What is Bevacizumab
Five café au lait macules
What is no diagnosis!
**Six or more café au lait macules would clinically dx someone with NF1
Like brakes on a train, neurofibromin naturally downregulates the activity of this signaling pathway.
What is RAS?
While usually associated with frame shift or splice site mutations, around 5-11% of NF1 cases are actually related to this type of syndrome.
What is a microdeletion syndrome?
In children, NF2 can be underdiagnosed. These are the common first signs of NF2 in children
What are skin tumors, ocular findings, and or persistent facial palsy or hand/foot drop
5 meningiomas and an NF2 PV in a blood sample. The VAF is 45%
What is mosaic NF2
Like a hot knife through butter, pathogenic variants in both NF1 and NF2 show this form of penetrance in affected patients
What is complete penetrance?