Genetic testing for NF2

[notnowkato]

My MRI shows only a 3cm left side AN and nothing on the right side and no other tumors in my brain or cervical spine, but the ENT surgeon said as I'm 31 there is a small chance it might still be NF2 and the bilateral AN will develop later. He doesn't recommend genetic testing but will refer me if I want to. So I wondered:

Did anyone experience a later growth of a second bilateral AN?

Can the genetic test give a definite answer whether it's NF2 or are false positives & negatives common?

Thanks,
Kate

[Jeff]

Hello,

I have nf2 and thus, some experience with these issues.

First, yes, my father was diagnosed with a single an and then another was discovered 10 yrs.
Later. BUT, that was before mri scans, so he may have had the 2nd when the first was discovered.

I looked at genetic testing, and here's my meager understanding:geneticists search for a mutation on chromosome 22. If one is found, then offspring can be checked for the same mutation. In the case of a confirmed nf2 diagnosis and an identified mutation, testing is quite accurate. But if a mutation is not identified, then, as I understand it, a negative result simply means that a mutation was not located - not that one does not exist.

In amy case, having a unilateral an is fairly rare, but having nf2 is even more unlikely.

I hope that this helps a little....

Jeff

[CHD63]

Kate ......

Just curious if your situation was unusual in some way that would lead your ENT to suggest you could be NF2.  I did not think it was the norm to even discuss NF2 (even though you are young) unless the patient had multiple tumors.  Hope your doctor has not caused you unneeded concern.

Thanks, Jeff, for the additional information about genetic testing.

Clarice

[ppearl214]

Hi Kate

Jeff is correct in his understanding that NF2 is genetic (is there any family history of tumors in your immediate family?) due to defect of Chromosome22. 

Phyl

[Cheryl R]

NF2 can also be a genetic mutation with no family history of it.     I am pretty sure that that's what mine is.        My first AN was at age 49 and the other side side never showed up till 2 years later.                There was talk at the symposium of what percentage it is with family history versus the mosiac mutation but can't remember now.             My dr just said for my daughters to keep watch on it and do MRI if have symptoms.      One has already with none.       He also said they would most likely be like me and be the older adult onset.                                  Cheryl R

[suboo73]

Kate, 

Thank you for asking your questions. 
I am here with my sister, aka Bigsister, and every time i tell the 'new' resident i have a sister with an AN, they ask me if it is NF2!

My daughters are both concerned, so now i have learned some new information on NF2.
The youngest is studying nursing and is very interested from a professional standpoint as well.

Thank you Cheryl R, Jeff and of course, Phyl!

My thoughts and prayers are with you, Kate as you go on this AN journey.
Keep posting your questions.

Sincerely,
Sue

[stef84]

I found out I had a 1.5cm AN this past summer. I was adopted, and since I have no medical history it was recommended that I have a genetics test. My Doctors say that they do not think I have it because the rest of my brain looks clear, but it would be good just to have. They said that if your rule out NF2 ...constant MRIs in the future may not be necessary.

[LOIS]

Hi Steph84,

I dont have nf2 but from what I understood from my dr., MRIs are still necessary every year, I think he said for about 10 years, as there is a small chance the tumor can grow back even when it is all removed.  I've only had 1 post-op MRI and it showed enhanced scar tissue, at least thats what it looks like now.  Guess next years will show if thats all it is.  I guess the point I'm trying to make is you would still need yearly MRIs just because you had an AN.  It doesnt really have anything to do if weather its nf2 or not.  I'm not in the medical field but that was my understanding and hope it helps.

Take care,
Lois

[notnowkato]

Thanks for your thoughts.

I have no family history of NF2 or any Chromosome 22 defects, and as far as I know my AN isn't unusual. The subject came up because I have a friend with NF2 so I specifically asked about it. Like Lois, my doctor said I would need follow-up MRIs anyway (although I'm not sure of the frequency and for how long) - so this would pick up a later developing bilateral AN. He also said it wouldn't change his advice with regards treatment for the current AN. The genetic testing was only relevant as I still hope to have children post-surgery.

All this information has been very helpful with regards to the value of testing. Especially Jeff's information about a negative test not necessarily meaning it's not NF2, so a negative result wouldn't necessarily put my mind at rest. It seems that, like most other things relating to AN, there are no guarantees so I shall keep thinking about whether testing is worth pursuing!

Kate

[allegro17]

Hi Kate,

I'm 30 years old, and was diagnosed last December with a 1.5 cm Right AN.  The question of NF2 was raised because of my age, but fairly quickly dismissed by all but one of the doctors I consulted.  I had surgery in April and went back for a follow up MRI 2 days ago, which found a tumor starting on the left.  As of Wednesday, I am officially NF2.  Unfortunately, it is the case that the tumors don't always develop at the same time or rate, and also that follow up MRIs are an incredibly important regiment for any AN patient, NF2 or other.  What matters for now is that you only have one!  And, becuase you will be receiving regular MRI's, you will be able to closely monitor any sort of "suspicious" activity without the need for genetic testing to tell you.  I was offered the opportunity for genetic testing a year ago, when I had only one AN, to attempt to answer the NF2question.  For me, I didn't feel the need to put myself through it or to know for sure, becuase it wasn't going to change the prosgression of what would happen to me one way or the other.  Does that make sense?  In any case, it's a personal decision.  This is just my experience, and I hope it's informative for you!

Laura

[Jeff]

Hi Laura,

Sorry for your diagnosis. It's a tough road sometimes, when living with nf2. But nonetheless, it beats the alternative

And yes, I understand your reasoning refarding genetic testing. Had you been tested and diagnosed, I wonder what it would change in terms of treatment.

Feel free to contact me if I can help in any way.

Regards,

Jeff

[Nickittynic]

I know this is an old post but I just wanted to add my experience to date.

I was diagnosed at 23 with a unilateral AN, and the neurosurgeon said it wasn't NF2 because the 1st tumor was so big that the second would have shown up by then if it were NF2. However, I have a 2nd degree relative that had multiple meningioma tumors. Plus, my kid's ped was concerned that my daughter was showing signs of NF1 (many cafe au lait spots and freckling). So, I went to a geneticist.

Long story short, I'll be having the test done. I don't want to just sit around and wait to see if another tumor shows up on the other side. We'll see what that says, if anything.

The longer version of the story is on my blog if anyone's interested (http://buginthebrain.blogspot.com/2010/03/saga-continues.html)

[JimmyD]

I had a Glioma tumor on the right optic nerve removed in 1961 when I was 5. They found a right side AN in 1999 when I was 43.
They also found a left side AN or Menigioma on the left side 2005.I was tested for NF II and the results came back negative.Doctors don't have an answer.I guess I am just "special".

[jerseygirl]

Hi, JimmyD,

NF2 tests are only 60-80% accurate, so if your mutation is not common, they might not even find it. Just because NF2 test is negative, it unfortunately does not mean you don't have it. Another possibility is NF2 somatic mosaic where mutations are in some tissues but not is the blood itself and, therefore cannot be detected by blood analysis. However, if the tumor tissue is analysed, mutations can (and must!) be detected because there is no such thing as a genetically "normal" tumor or else the test is really insensitive.

 Let's hope that in your case, absence of formal NF2 diagnosis means that you will never develop any other tumors! As far as being special, we are all special, so you have come to the right place!

                    Eve   

[JimmyD]

Good too know Jerseygirl.It's nice to here from a fellow Jerseyite
Jim