NF2 Testing and Impact to AN Treatment Decisions

[jmarkle]

I have been recently diagnosed with Left Side AN ~1.2cm. At this time I have decided to wait for another MRI at end of Feb. to determine if there is growth. Per discussions with one of the Dr's I consulted with, he recommend that I proceed with surgery or radiation if there is growth. I also felt I just needed time to process this whole thing, and didn't think waiting a few more months would not hurt.

Even if there is no growth, I am aware that my symptoms can still worsen over time. At this time I am researching my surgery options.  In the process I have learned of NF2. I have also learned that the "Cafe" spots may be an indicator of NF2. I believe I have these spots on my leg, I have noticed them since my teens, and they seem to become more noticeable in the summer when I have a tan. So here are my questions:


1.) I think I have the "Cafe....." spots on my legs. They are currently very light, and difficult to notice. They cover an area on my left calf about 3 inches x 2 inches, 
      a.) If any of you have these, do they get darker with a tan, if yours happen to be on areas that get sun.
      b.) Do you need a dermatologist to diagnose these spots? If not, who would diagnose these, do you need an NF2 specialist or are the AN Dr's able to diagnose this?

2.) I think that if I knew I was NF2, it would influence my surgery decision, i.e. I would choose Retrosigmoid over Translab to save as much hearing as possible and be willing to take the additional risks for headaches etc...
      a.) Has anyone here had genetic testing, and used the results if "positive" to influence their surgery decision?

3.) Let's say I just forget about NF2, proceed with let's say Translab and lose all hearing in my ear. Later down the line I get another AN.
      a.) Per my research I would be considered NF2. What is the general impact to treatment choices at that time?
     

I know that NF2 is rare but I have other rare unnoticeable genetic imperfections such as liver hemangioma, and clubbed thumbs. I don't think any of these are linked but I seem to have my share of genetic imperfections and would not be surprised with the NF2 Diagnosis. No one in my family has any of these issues. I do have a cousin who was born deaf, but not sure of the specific cause.


Thanks in advance for your replies.
This site has been invaluable to me over the past few months.

Regards,
John

[ASG]

Hi John,

I think you're going to get some great feedback from people on this forum who do have NF2 and can answer your specific questions about cafe au lait spots and treatment choices.

When I was diagnosed last June I also wondered about NF2 because I was relatively young (31) and some of the doctors I spoke with mentioned it as a remote possibility.

I ended up meeting with a geneticist and underwent genetics testing.  Through this process I got a ton of information about the underlying genetics of NF2 and the likelihood I have it.  I won't re-write it all here, but you can read my follow-up posts in this thread: http://www.anausa.org/smf/index.php?topic=19222.0.

My genetics test was negative for NF2, making it very unlikely I have it.  However, like you, earlier on the possibility of NF2, however unknown, had some weight on my treatment choice in that preserving hearing in the AN ear was a high priority.  For me that meant going with GK (which was the best fit for me in many other ways as well), but for you it might mean choosing one surgical method over another.

I'll let people with more knowledge chime in, but I think talking to a geneticist who's seen other people with NF2 might be a helpful next step.

Adam

[Nannybee]

John, NF2 would be bilateral AN's or one AN and multiple meningiomas (another benign brain and spinal tumor). I have a single AN and 3 meningiomas. Cafe au lait spots may be associated with NF2, but aren't diagnostic. Lots of people in the general population have them and not everyone with NF2 has one.  Hope this helps.

[Susan A]

John,
With one AN and some cafe au lait spots you really don't fit the clinical criteria for NF2 at this point. You don't say how old you are though other than that you're not in your teens any more, and that can make a difference.
I haven't heard anyone in the NF2 community mention liver hemangiomas or clubbed thumbs, so I strongly suspect they are not related to NF2.
You've clearly done a lot of research but for now I'd forget all that and relax until you get your next MRI results :-)
Susan

[Cheryl R]

Hello and I agree with Susan about your worry over NF2.       I do have NF2 and only have 2 very small spots.       I have seen several people with them as am a retired nurse and none had NF2.   Or even an AN.          The chances are small that you will eventually have an AN on the other side or other type of tumor.   
        I hope this helps and all goes well for you.                      Cheryl R

[tinabean925]

Cafe au Le (CAL's) are actually more common with NF1. My son has NF2 and only one small CAL. They discovered my son's NF2 (coincidentally) last month after a CAT scan (he is 17). His diagnosis was confirmed at the opthomologist, and he never had genetic testing. He has at least 2 AN's and 2 meningiomas. And more on his spine.

We have to make a decision ASAP as to surgery or radiation because his AN is more than 2.5cm. He also has a smaller AN on the right nerve that they say we should just watch for now. Hope this answers your question about another AN down the road.

I am nervous about radiosurgery because I heard that it can turn benign tumors malignant. Anybody ever heard of this? Such a tough decision! Obviously I am immersing myself into learning everything I can in such a short time. I just can't seem to get a straight answer for that.

Now I have to go look up this retrosigmoid and translab surgery terms that you mentioned, as I have never heard of them. Good luck!

[Susan A]

Tina - I'd think really carefully about radiation treatment and make sure you are working with docs who really know about NF2. I see Dr Plotkin at Mass General in Boston and he told me last October that give my age (early 50's) he thinks radiation is an option. He said he is nervous about using it on younger patients because of the long-term risk of creating a malignancy -  not immediately necessarily but as much as 20+ years down the road. You're right that you have to make a decision ASAP though - I've heard that radiation is not used on larger tumors.
Such a hard position to be in, trying to make decisions with/for such a young person! I wish you all the best!

[tinabean925]

Thanks Susan, Dr Plotkin is who we are going to visit for our 2nd opinion.

[Susan A]

Oh good Tina, I'm glad you're getting to see Dr Plotkin.
BTW, if you are on Facebook, there are some good support groups there - a general NF2 one, one for parents of kids with NF2, and a couple of different ones just for people with NF2 - one of them specifically for young people like your son. Look for NF2 Crew.