Author Topic: atypical NF2?  (Read 5742 times)

New girl

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atypical NF2?
« on: July 30, 2012, 04:57:15 pm »
Hi there,

I am writing to see if anyone has had a similar experience or has any info.  Here is my story:  My grandmother near the end of her life (in her late eighties) found out she had several brain tumors.  Her doctors told her she did not need treatment therefore she did not treat them nor did she discuss the details with anyone.  Therefore I do not know if she had an AN, meningiomas, etc.  She ended up dying of unrelated causes a few years later.  I was diagnosed with an AN ~ 1 year ago at age 37.  Now my uncle (the son of my grandmother) was just diagnosed with an AN.  He is in his fifties.  I talked to my neuro-otolgist today who stated I most likley do not have NF2.  They will not perform any genetic testing unless I develop an AN on the other side.  Has anyone known of three generations having brain tumors which are all unrelated?  I feel like this is not a coincidence.  I know it will not change my current monitoring but I am the type of person who just needs to know.  I was quite frustrated about this and then I thought I should post here just to see if anyone had some wisdom to share.  I have done the research about how the gene is passed on etc. but I am sure there must be some atypical cases out there.  Any info would be appreciated! or maybe I just need someone to tell me to chill out and be thankful I have only had one AN!  Thanks.
9mmx14mmx9mm
Diagnosed 6/1/2011
Retrosigmoid Surgery 9/27/2011
Daniel Lee (MEEI) & Fred Barker (MGH) - Exceptional Surgeons

madison

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Re: atypical NF2?
« Reply #1 on: July 30, 2012, 06:21:20 pm »
Hi.. I wonder if I don't have mosaic nf2. I was genetically tested even though I only have one AN.  My tests were negative, but I learned that they can only test for nf 2 by tissue testing a tumor that was removed. Unfortunately, I learned this too late...my surgery was 6 weeks ago.  I'm having a large meningioma removed in six months, so maybe they can test that.  My dad is very hard of hearing but was never tested for anything...he's 80.  My brother has been losing his hearing since the age of 40..he is now 44, but in denial and wont get tested unless other symptoms start. I have a history of 2 neurofibromas(one in my armpit and one in my finger that I had removed in 1999)and I had the AN removed...I have 4 other meningiomas(one grew lg so I have to have it out)I feel like I always have something going wrong but I try to stay as positive as I can. At least Im alive ;) I wish you well and hopefully it's not nf2. Try to cross that bridge if and when you ever come to it.
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

New girl

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Re: atypical NF2?
« Reply #2 on: July 31, 2012, 03:16:40 pm »
Thanks for the post Madison.  You have had quite a journey.  Hopefully I will not have to cross the NF2 bridge.
9mmx14mmx9mm
Diagnosed 6/1/2011
Retrosigmoid Surgery 9/27/2011
Daniel Lee (MEEI) & Fred Barker (MGH) - Exceptional Surgeons

Susan A

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Re: atypical NF2?
« Reply #3 on: July 31, 2012, 04:02:01 pm »
Hi there,

I am writing to see if anyone has had a similar experience or has any info.  Here is my story:  My grandmother near the end of her life (in her late eighties) found out she had several brain tumors.  Her doctors told her she did not need treatment therefore she did not treat them nor did she discuss the details with anyone.  Therefore I do not know if she had an AN, meningiomas, etc.  She ended up dying of unrelated causes a few years later.  I was diagnosed with an AN ~ 1 year ago at age 37.  Now my uncle (the son of my grandmother) was just diagnosed with an AN.  He is in his fifties.  I talked to my neuro-otolgist today who stated I most likley do not have NF2.  They will not perform any genetic testing unless I develop an AN on the other side.  Has anyone known of three generations having brain tumors which are all unrelated?  I feel like this is not a coincidence.  I know it will not change my current monitoring but I am the type of person who just needs to know.  I was quite frustrated about this and then I thought I should post here just to see if anyone had some wisdom to share.  I have done the research about how the gene is passed on etc. but I am sure there must be some atypical cases out there.  Any info would be appreciated! or maybe I just need someone to tell me to chill out and be thankful I have only had one AN!  Thanks.

I'm a thoroughly atypical case and have spent a lot of time learning about NF2 so let me share with you what I know - but bear in mind I'm not a professional so take it all with a grain of salt.

Starting with your grandmother - you don't know what kind of tumors she had, but they appear to have been discovered rather late on in her life. So IF it was NF2, it wasn't Wishart-type NF2, which manifests early. Potentially Gardner-type, which shows up later - but more likely in your 40's or 50's not 80s. You don't say if she had hearing loss. Meningiomas/other brain tumors alone are NOT NF2 - so if she had no ANs, then she probably did not have NF2. If you cheeck out the Meningioma Mommas online support group, you'll find people with multiple meningiomas who do not have NF2. If she had a mosaic form, then she either did not pass it on to her children or she would have passed on the full-blown version and you most certainly would have known if she had done that.

As far as you and your uncle are concerned, from what you've said, neither of you fit the criteria for a diagnosis of NF2 which are:

Bilateral vestibular schwannomas (VS)

or

Family history of NF2 (first degree family relative)

plus

    1. Unilateral vestibular schwannoma and individual is less than 30 years old
    2. Any 2 of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

Individuals with the following clinical features should be evaluated for NF2 (presumptive or probable NF2):

    Unilateral vestibular schwannomaindividual is less than 30 years old plus at least one of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
    Multiple meningiomas (2 or more) plus unilateral vestibular schwannoma and individual is less than 30 years old or one of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract


With only 1 AN, no other tumors, and no confirmed cases of NF2 in the family, there is no way any doctor is going to consider a diagnosis of NF2. It is bad luck that you and your uncle both have an AN - and who knows, there may be a genetic reason for it, but I don't think we know enough about genetics yet to be sure. You have great doctors  though - but I know you know that!
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

New girl

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Re: atypical NF2?
« Reply #4 on: August 01, 2012, 03:58:43 pm »
Thanks Susan!  I really appreciate the info.  I had no idea about the Wishart and Gardner types.  I have done some research but feel as though I have much more to do.  I work in the biological sciences field so I feel like there must be some sort of genetic component therefore I feel it is worth at least performing the genetic testing.  I am sure insurance companies do not feel the same and since it really doesnt change my life today I guess I dont have a strong case.  My grandmother definately had hearing issues.  She was the type to never complain so it is hard to get any details.  Thanks again.  I hope all is well with you.  :)
9mmx14mmx9mm
Diagnosed 6/1/2011
Retrosigmoid Surgery 9/27/2011
Daniel Lee (MEEI) & Fred Barker (MGH) - Exceptional Surgeons