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I've seen many people referring to type 2B in the discussions lately, and I was just wondering how you know that you have type 2B.
When we were given Steven's genetics results, no mention was made of what type he might be. Is there a way to know from his specific deletion?
Hi
My genetics test was sent to Boston University. It was positive for VHL and and the mutation was R167Q
Type 2B. This type is positive for Adrenal pheochromocytomas (which I had 22 years ago),
pancreatic islet cell tumors which I have, spinal hemangioblastomas (which I have) and kidney cancer
(that I don't have). The different type that occur have different types of problems.
Tina
Hi Beverly,
Here is a breakdown on the different types of VHL that have been identified to date.
http://www.vhl.org/research/nci-clas.php
Gale
The above is reason to get your mutation on file with NDRI.
To do this register at 877-221-6374, which is the NDRI hotline or you may call Ranjana in the VHLFA office at 800-767-4845 x4 or even write to bank@vhl.org.
Let's work together to manage VHL, if not for yourself, then for the upcoming generations.
Gale
Thanks Gale...I didn't even think about having to report Steven's information. Sometimes it seems that I just assume that things "magically" happen!
I did ask the genetics specialist if CHOP reported a "type" of VHL associated with Steven's deletion, but they only thing they said is that he will be equally susceptible to all forms of VHL lesions. (Maybe that is 2B?)
We do and will always screen for all lesions of the disease. I just am curious about this, as everyone seems to be mentioning a type lately.
Thank you, Gale. That is a great article about VHL types.
Tina
Hopefully everyone can send their mutation to NDRI. Numbers talk.
Gale
I've recently seen a letter which says I have vhl (heterozygous C162Y mutation) which means nothing to me. Does anyone have any ideas what this is?
If you go to www.pubmed.gov and look up
C162Y, and article comes up that says that type MAY
be common for spinal hemangioblastomas only.
Maybe that will help?
Tina
Thank you
I've already had one removed from my brain and have a further 3-5 tumours of the brain.
I've had no other ones detected anywhere else as yet so fingers crossed
The specific mutations are very interesting in the research lab, as we are trying to understand just what the gene does. There are some major connection points along the gene, where it tries to link up with other proteins in the cell. If the mutation occurs in one of these connection points, then the expected connection doesn't happen, or at least not as it should.
From the clinical side, however, it really doesn't make a great deal of difference to someone's care. Everyone is at some level of risk for nearly all aspects of VHL. Most people with VHL do not get all of it, just some selection of issues. So there is nothing we know well enough to say that we do not need to test for it -- we still have to test for everything.
At some point in the future we may be able to narrow the screening, but for now, it is safest to continue screening for all the VHL issues.
The only aspect that we have yet learned that will modify clinical care is Dr. Libutti's people with VHL in the pancreas might proceed differently depending whether their VHL alteration is is Exon 1.
Best wishes,
Joyce
From talking with my genetic counselor I learned a few things regarding type of mutation and phenotype-genotype classification: My daughter and I have a complete deletion of the VHL gene and the counselor said that there has been a little, (and I mean tiny), bit of research that might mean that people with the deletion of the gene may have a reduced risk of kidney involvement. I do know that we are either type 1 or 2B because I have already manifested in the brain, pancreas and retinas. But after that, I have no idea. I know that Joyce is right, though, in being careful to screen for all manifestations. Better safe than sorry~
I was just curious as to what to expect with the variation I have
me too, that is why I have investigated it. Have you read the VHL Handbook from the VHL alliance?
Best of luck to you,
Tina
My sons report says "is heterozygous for the insertion of a single base (ins G) between nucleotides 658 and 659 of the von Hippel-Lindau gene. This mutation results in a shift of the translation frame of the encoded mRNA from amino acid position 149 to a premature stop codon at position 173 (FS149->X173. If i were to report his mutation, what exactly would it be?
This is called a "frame shift error" at codon position 173. It can also be referred to as an "insertion" error.
Here's a phone number with a frameshift error:
http://vhl.org/gifs/frameshf.jpg
In your son's case, one letter (a G) was inserted into the very long string of letters in the code, pushing the frame just one notch, but making an important difference in the meaning of the code.
Best wishes,
Joyce
The full article describing these errors is
http://vhl.org/newsletter/vhl1993/93bbfram.php
which is an illustration in our article on the finding of the VHL gene:
http://vhl.org/newsletter/vhl1993/93bagene.php
Best wishes,
Joyce
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