1p19q chromosome deletions

connsteele

I've read in several posts on this site about the 1p19q chromosome deletions topic, and that several readers of this list have had this test, which I understand can be valuable prognostic tool and predict how a tumor responds to chemo.

Our son (age 34, dx 4-13-11, AA3, inoperable) has not had this test, and when I brought this up to a member of his medical team, she said that, after further review from two neuropathologists, David would not benefit from knowing if he has this deletion. The reason given is that knowing if a patient has the 1p19q chromosome deletion is only helpful for lower grade gliomas in determining response to chemo, not for high grade, like our son's.

I've read about several cases here on this list who have high grade tumors and their NOs seem to value this test in determining treatment protocol.

I don't know how far to push this with my son's NO as I have a feeling that knowing if he has the deletion or not won't really change his treatment protocol anyway.

Has anyone else on this list brought this topic up with their NOs and gotten the same response?

I_Promise

Pushing for tests
Not for this 1p19q deletion, but in our case (AA3) MGMT, IDH, EGRF VIII, etc..

I met a lot of resistance. It seems some centers do it automatically. Some don't do it at all. It was not until I had a list of makers from Duke and showed it to the Hopkins team that Hopkins decided to test the tumor.

Their reluctance was 1) Insurance company might not pay for it (let me decide what I can or cannot pay) 2) It won't change the treatment plan (my answer: it could in the future; in actuality it is helping us NOW) 3)the prognosis value can be misleading (sure, but I still need to know).

Frankly in this 21th century, knowing that every single brain tumor is different, the least they could do is to sequence the whole monster, culture a few cell lines on a petri dish so that we have a ever lasting supply of these cells when the tumor blocks run out (or the biopsy).

My feelings on it is: Insist. I went directly to the pathology department and found the the right liaison person for my request. She gave me the paperwork and I brought it to my neuro-onc who eventually signed them.

J.

cindysuetoyou

gene deletions
Hi, connsteele.

We have run into different opinions....no surprise there since we have had the issue of differing opinions since the day David was diagnosed. The disagreement with the deletions was this: OHSU feels that the lack of the gene deletions are a definite prognostic factor for David, and he was diagnosed from the beginning with a grade 3,not a grade 2. Then when we went to NIH, they said that the importance of the deletions is not fully understood and may not be as definite as once thought. OHSU of course disagrees. I don't dwell on it any more because it could make me crazy. And OHSU said it doesn't mean FOR SURE that chemo won't be as effective...the odds are just higher that it might not be as effective.

A side note: I also asked NIH if I was correct in this line of thinking....that every tumor is unique to the individual that has that tumor...that the tumor has a certain genetic profile based on the individual. And so every tumor is unpredictable in how it will react and behave to chemo or other treatments. What will work for one person may not work for another person...even if they have the same type and grade of tumor. And what does not work for one person may work for another person. NIH said yes, that is correct, and as of right now, they do not understand the genetic indicators that would show which treatment would work the best, on an individual basis, but research is being done as we speak to figure that out.

As far as treatments....when we first found out that David had a grade 3 oligodendroglioma, our NO at OHSU said it was up to us...we could do either radiation, OR chemo, OR both. Our choice. But when the FISH evaluation was completed and showed that 1p19q were intact, he said that we no longer had a choice...we HAD to do both. We were still in the early stages following diagnosis (shock, disbelief, denial) so we went to Fred Hutchinsons in Seattle and they told us do only do one--radiation OR chemo---and save one treatment for later---even considering the lack of deletions. OSHU STRONGLY disagreed and said that doing both together would have a synergistic effect---they each would amplify the effect of the other, and we really needed to do both because of the lack of deletions. So we got a THIRD opinion from UCSF and they agreed with OHSU and said that considering David's younger age (he could handle both treatments easier than an older patient) and considering the fact that he did not have the deletions...they recommended that David do both treatments. So back to the basic problem...the doctors don't know for sure what works the best. If they knew which treatment worked for sure, everyone would be getting that treatment.

Other than that, nothing different was done for David regarding treatments, based on the deletions.

It's tough for me because I have zero medical background and I'm trying to learn things on the fly as David's situation continues to evolve. I worry that I am not doing enough, researching enough, pushing enough and making sure that David gets every possible treatment and chance that is available. I am not a confronter by nature and I am intimidated by doctors and it's hard for me to get in their faces and argue about what they are or are not doing. I agree with Julia, though. I'd insist that your doctors do the tests for the gene deletions. It might be significant for something else down the road. Leave no stone uncovered, I guess....

Love and blessings and peace to you,
Cindy in Salem, OR

sadinholland

cindysuetoyou said:

gene deletions
Hi, connsteele.

We have run into different opinions....no surprise there since we have had the issue of differing opinions since the day David was diagnosed. The disagreement with the deletions was this: OHSU feels that the lack of the gene deletions are a definite prognostic factor for David, and he was diagnosed from the beginning with a grade 3,not a grade 2. Then when we went to NIH, they said that the importance of the deletions is not fully understood and may not be as definite as once thought. OHSU of course disagrees. I don't dwell on it any more because it could make me crazy. And OHSU said it doesn't mean FOR SURE that chemo won't be as effective...the odds are just higher that it might not be as effective.

A side note: I also asked NIH if I was correct in this line of thinking....that every tumor is unique to the individual that has that tumor...that the tumor has a certain genetic profile based on the individual. And so every tumor is unpredictable in how it will react and behave to chemo or other treatments. What will work for one person may not work for another person...even if they have the same type and grade of tumor. And what does not work for one person may work for another person. NIH said yes, that is correct, and as of right now, they do not understand the genetic indicators that would show which treatment would work the best, on an individual basis, but research is being done as we speak to figure that out.

As far as treatments....when we first found out that David had a grade 3 oligodendroglioma, our NO at OHSU said it was up to us...we could do either radiation, OR chemo, OR both. Our choice. But when the FISH evaluation was completed and showed that 1p19q were intact, he said that we no longer had a choice...we HAD to do both. We were still in the early stages following diagnosis (shock, disbelief, denial) so we went to Fred Hutchinsons in Seattle and they told us do only do one--radiation OR chemo---and save one treatment for later---even considering the lack of deletions. OSHU STRONGLY disagreed and said that doing both together would have a synergistic effect---they each would amplify the effect of the other, and we really needed to do both because of the lack of deletions. So we got a THIRD opinion from UCSF and they agreed with OHSU and said that considering David's younger age (he could handle both treatments easier than an older patient) and considering the fact that he did not have the deletions...they recommended that David do both treatments. So back to the basic problem...the doctors don't know for sure what works the best. If they knew which treatment worked for sure, everyone would be getting that treatment.

Other than that, nothing different was done for David regarding treatments, based on the deletions.

It's tough for me because I have zero medical background and I'm trying to learn things on the fly as David's situation continues to evolve. I worry that I am not doing enough, researching enough, pushing enough and making sure that David gets every possible treatment and chance that is available. I am not a confronter by nature and I am intimidated by doctors and it's hard for me to get in their faces and argue about what they are or are not doing. I agree with Julia, though. I'd insist that your doctors do the tests for the gene deletions. It might be significant for something else down the road. Leave no stone uncovered, I guess....

Love and blessings and peace to you,
Cindy in Salem, OR

I feel the same way. My
I feel the same way. My husband trust the hospital so much that he won't even think about going elsewhere for a second opinion. I suggested we just have someone look at his MRI results and he said no, he feels his doctor knows what he is doing. My husband won't even allow me to ask for a disk of his MRI, we only get the written reports. I always feel like a second opinion, even third on something this serious is necessary. Especially since so many doctors have so many different opinions on this anaplastic olios. And most of the time, I have no idea what the doctor is telling us. I just understand the "bottom line" the MRI shows everything is "stable".

As far as treatment choice, they told us either do both radiation or chemo, or my husband was going to die soon. I went home and read as much as possible on the treatments, my husband didn't want to hear what I read after the docs said if he didnt' do both he would die soon, his mind was made up. We NEVER had a doctor tell us about the effects of radiation, I researched it myself. They even told us he could have radiation again, possibly, if he needed it. Since I was never allowed to ask questions in the doctors office, I had to keep my mouth shut about my concerns and opinions when we went for dr. visits. They did tell us the 1p 19q deletion was significant in treatment. In my opinion, whatever they can do, test, to get a better understanding of the tumor, do it!!