Tara,

Great question, and good area to explore further. There hasn't been alot of
discussion about genetic issues on our ATRT board, and it is an area of critical
importance.

Could EVERYONE answer the following question:

Has your child had the genetic testing?
What were the results?
For those with the INI1 deletion, is it just in your child or also in a parent?
Any with a family history of schwannomas or neurfibromas?


I will go first.Andrew Padfield
INI 1 deletion in the tumor and in all cells
Neither parent has the deletion
Andrew's great grandfather died from a brain glioma in his 60s.



To: ATRT@...: DegoBoo02@...: Thu, 16 Oct 2008 05:32:08
+0000Subject: [ATRT] Schwannomas and ATRT




Many of you may or may not know of our our daughter, Mattea. She was diagnosed
with ATRT in July 2006. We obtained one of the last openings in THE PROTOCOL
that many people are now basing their own treatment off of. Mattea will be 2.5
in November and is doing wonderfully. She is 27 months from diagnosis and 1 year
off of treatment. Her most recent scan, on August 25th, was stable. As far as
she is concerned, things couldn't be much better.When we realized we were
pregnant with our second child, we underwent extensive genetic testing in hopes
of ruling out suspicion that our experience with ATRT was the result of a
genetic issue. Unfortunately, we were told that Mattea, and my husband Mike both
have the INI-1 gene mutation (and in their case, a total deletion). Further
testing revealed that our second child, Mackenzie, does not have this mutation.
One of the primary issues that Dr. Biegel (Children's Hospital of Philly) is
trying to address is, why do some people with INI-1 suffer from these vicious
cancers while others with the same mutation develop benign schwannomas and
neurofibromas. So far, it's a mystery. Anyway, we are now a multi-generation
family with the presence of this gene mutation and the following: ATRT, possible
medulloblastoma (diagnosed in the early 1960s), Schwannoma, and
Neurofibromas.Has anyone else had an experience similar to this? I know it's a
long shot, but I'm trying to gather any information I can that could be anywhere
close to what we're experiencing right now. Thanks,Tara Lesorgen





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