Author Topic: Nf2  (Read 5572 times)

madison

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Nf2
« on: July 19, 2012, 12:26:29 pm »
Hi.I was hoping someone out there can answer a question for me.
How do you find out if you have the mosaic form of nf2?
I had the whole workup and the blood test..it was all negative.
But...I just had an acoustic neuroma removed,and I have 4 mmeningiomas.3 are very small but I have to schedule surgery because 1 is getting quite large. I also had surgery in 1999 to remove what they thought were just 2 fatty tumors until they got in there..they were neurofibromas.  One was in my finger and one in my armpit. They never ever mentioned nf2 at the time, and now that I have been tested, nobody has mentioned the mosaic. I only found out about it on this forum.  I just think with that many tumors something must be wrong.I feel like there's no light at the end of the tunnel.  I'm strong and upbeat so I try to keep hope to be healthy again someday, but I have a hard time thinking my whole life isn't some medical advancement experiment! 2 kidney transplants,benign skin cancers,plenty of time in the o.r. I  know it could always be worse and thats what keeps me positive, but at the same time I feel bad when I
see someone worse off. Well,I'm rambling. Id really appreciate your opinions and any comments or stories you might have.thanks!
« Last Edit: July 19, 2012, 12:30:04 pm by madison »
Pennsylvania:female: 40 yrs. old
R ACOUSTIC NEUROMA;GAMMA KNIFE FEB. 2008
multiple meningiomas
scheduled for translab @ Thomas Jefferson in Phila. Pa. on 6/18/2012

Archer

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Re: Nf2
« Reply #1 on: July 19, 2012, 02:11:06 pm »
From conversations I had with Dr. Brackmann at the House Clinic, the most dependable way is to take tumor tissue, if there is any available from a surgery when an AN is removed, and have it tested.  I can't recall exactly where he said the tissue would be sent for testing.  He did say though, that it was an accurate test to determine if it was mosaic or not.  I'd ask your surgeon if a tissue sample was kept from you surgery and ask it it can be tested.

Cheryl R

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Re: Nf2
« Reply #2 on: July 20, 2012, 06:57:28 am »
Madison, I think they go by if there is no family history of NF2,then assume it is.        I have just 2 ANs  and a facial neuroma and it has never been mentioned to do any testing.       I have no family history of any.      Now my worry is if my daugthters will as have the 50/50 chance and been told would be at similar age as when I did which was older age. Our youngest is 35 today and her sister is 37 Mon.    I was 51 when knew was NF2.                                 Cheryl R
Right mid fossa 11-01-01
  left tumor found 5-03,so have NF2
  trans lab for right facial nerve tumor
  with nerve graft 3-23-06
   CSF leak revision surgery 4-07-06
   left mid fossa 4-17-08
   near deaf on left before surgery
   with hearing much improved .
    Univ of Iowa for all care

nftwoed

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Re: Nf2
« Reply #3 on: July 21, 2012, 09:31:17 am »
Hi Madison;

  Of course it is known NF-2 really means "any two of". A person doesn't need to have bi-lateral ANs. Also, the other tumors outside a single AN, just need to fit the typecast of tumor types commonly associated with NF-2. Meningioma is a common one.
  You are absolutely correct in saying, "it can be worse". It can be so very much more worse!! But, that doesn't alleviate our suffering, does it? I feel somewhat better when I actually go to Mayo Clinic OTO and see others I'm pretty sure have a more severe form ( Wishart ) of NF-2.
   Best wishes and hang in there, Madison!


Hi.I was hoping someone out there can answer a question for me.
How do you find out if you have the mosaic form of nf2?
I had the whole workup and the blood test..it was all negative.
But...I just had an acoustic neuroma removed,and I have 4 mmeningiomas.3 are very small but I have to schedule surgery because 1 is getting quite large. I also had surgery in 1999 to remove what they thought were just 2 fatty tumors until they got in there..they were neurofibromas.  One was in my finger and one in my armpit. They never ever mentioned nf2 at the time, and now that I have been tested, nobody has mentioned the mosaic. I only found out about it on this forum.  I just think with that many tumors something must be wrong.I feel like there's no light at the end of the tunnel.  I'm strong and upbeat so I try to keep hope to be healthy again someday, but I have a hard time thinking my whole life isn't some medical advancement experiment! 2 kidney transplants,benign skin cancers,plenty of time in the o.r. I  know it could always be worse and thats what keeps me positive, but at the same time I feel bad when I
see someone worse off. Well,I'm rambling. Id really appreciate your opinions and any comments or stories you might have.thanks!

nftwoed

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Re: Nf2
« Reply #4 on: July 21, 2012, 09:47:31 am »
Hi Cheryl;

  To my understanding, one of every NF-2 persons parents gave a defective NF-2 gene to the genetic profile at conception. Thing is, the gene had mutated only once, so, no active NF-2 in the parents. The gene requires 2 mutations to form a tumor.
  The embyro or fetus then must have a spontaneous mutation of the once mutated gene for NF-2 to develop as a full blown pathology. There is a 50/50 chance of that occurring.
  Re, your daughters, it would seem to me if they inherited the defective gene from you, then their chance would be 50/50. I don't think one can predict which parent gave the NF-2 gene ( healthy, or not ). I have read a study which stated the male parent is somewhat more responsible in giving the once mutated NF-2 gene, but not a lot. Maybe 19%, as per that study?

Susan A

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Re: Nf2
« Reply #5 on: July 21, 2012, 08:02:17 pm »
Hi.I was hoping someone out there can answer a question for me.
How do you find out if you have the mosaic form of nf2?

It's my understanding (as someone who has mosaic NF2) that it can be difficult to confirm. Mosaic means that you don't have it in every cell in your body, so a test will show negative if it doesn't happen to include some positive cells. Tumor cells should test positive though for NF2 if you have NF2 I think.

My diagnosis is based on a confirmed diagnosis of mosaic ring chromosome 22, one AN and a meningioma. Without knowing that I have mosaic ring 22, I don't think the docs would necessarily have confirmed the diagnosis of NF2 so quickly.
2011 8 x 7 mm AN, & 20 x 22 mm M found, both on the left. Mosaic NF2 diagnosed. Some hearing loss
2014 hearing 30% on left, now using hearing aid (HA)
2015 Now have CROS HA - no longer hear enough for HA to be useful in AN ear
2016 Use an FM system on occasion at work to supplement HA

 


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