BOTH del5q + del20q

[Juan]

Hello to everyone,

First and foremost, let me apologize for my poor grammar and writing skills (I'm from Spain in Europe and sometimes I find it hard to express myself in english).

I would like to ask you all for any info on having both del5q and del20q chromosome mutation. My father (75yo) was diagnosed some months ago with MDS, and im trying to find everything I can about it online, but still havent found a person with both chromosome dels nor any papers on that.
I red that both of them have "good" prognosis, but I dont know if its just when isolated or what...

For now he is being treated with eprex (once a week) and exjade (for the iron) and had a blood transfusion 2 months ago... He looks "fine" and says he feels ok, though I dont know for how long can anyone be taking this kind of treatment before it stops working, and how it can "control" the blasts and chromosomes (as i told you, Im new to all this).

This is so hard to deal with, even more now during xmas days (they gave us the 2 years OS) and Im trying to be as well informed as i can, and attempting to find hope and strength wherever I might... so any help will be much appreciated. THANKS

PS: this is the first time ever I write in a forum of any kind, so Im not sure if I did it "the right way"...

[Neil Cuadra]

Juan,

You can find a Spanish introduction to bone marrow disease and MDS at http://www.mds-foundation.org/wp-con...sh_Low-Res.pdf. There are more details at http://www.mds-foundation.org/international-handbooks but not in Spanish.

You are correct that del(5q) and del(20q) are both favorable cytogenetics for MDS patients. See the calculator at http://www.mds-foundation.org/ipss-r-calculator/.

This article from 2006 reports that

del(20q), is a common cytogenetic abnormality in various myeloid disorders and is known to be a favorable prognostic factor in myelodysplastic syndromes (MDS) when it is the sole change. However, del(20q) occurs with one or more cytogenetic changes when it is associated with disease progression.

This more recent article reports the same thing but neither mentions del(5q) specifically.

I suspect that there are other patients with del(5q) and del(20q) but I didn't find any articles about these two mutations in combination. When doctors refer to "5q- syndrome" it's for del(5q) in isolation. Does your father have any other abnormalities as well? This article says

5q deletion can be seen with other accompanying abnormalities. Review of the recent Mayo Clinic cases shows that major abnormalities include -7, +8, -20, 20q-, -13/13q-, and abnormalities in 12p, in the descending order.

Eprex can help your father maintain his hemoglobin. I'm surprised that he needs Exjade if he has only infrequent transfusions, but his doctor probably knows best. (I'm a caregiver, not a doctor.)

These drugs aren't curative and are treating only the symptoms. The doctors may not want to do anything more aggressive as long as he's stable.

[Juan]

Thank you very, very much Neil for you answer and support...

As far as I know, he only has those two abnormalities (del5q and del20q). One thing I cannot find any info on is this: are these mutations stable while blood counts are also stable or do they progress in a different way? cause if this is the case, shouldnt he be having marrow analysis more often as well, to check on that alongside with blood counts too?

About the Exjade, for what Ive red, I also think that he shouldnt be taking it right now, but doctor told him to continue with it + Eprex, as his blood counts were increasing in the last months... As a matter of fact, after his last marrow tests, they told him to start vidaza, but after seeing the blood counts a few days later, they decided to keep going with Eprex instead...
Im afraid Eprex and Exjade will sometime sooner or later stop working (for how long can anyone take them? I have red of people going on with Eprex for 5 or more years without loosing the effect).

Truth is he looks good. Yes, he is 75yo, but he has a normal life going to the office everyday (which is just 5min far from home, but still), eating well, and going up and down the stairs without any problem (with the treatment of course) and its hard, confusing and devastating for me, looking at him and knowing that something so bad is happening inside him at the same moment... If it wasnt for the info I get from the internet and the doctors (even though some days they say one thing and the next day they say another), i would never say he is so bad with a 2 year survival estimated... how reliable are those numbers btw?

THANKS AGAIN for answering this post, it really helps...
(IM SO AFRAID)

[PaulS]

Hi - there is a lot of great information on the internet - but also some scary stuff and not everything is up to date - or applicable to your father. Everyone is different and MDS outcomes vary. It sounds like your father is lower risk MDS and could be relatively OK for years.

Is just his hemoglobin low? - and how low? If he's responding to EPex that's great - Ejade is usually given to combat iron overload associated with many blood transfusions - I'd ask why he's being given it now - does he have high iron levels?
If he's responding to epex and has no other symptoms it may not be time for a drug like Vidaza - although with q-5 deletion I think Revlimid is often the first choice and can be very effective - another question to ask the doctor.

Its also great your father generally feels well.

Best wishes
Paul

[Juan]

Thank you Paul,

The thing is, its all somehow misleading...

They told us he was in a RAEB2 but, as you said, apparently he looks like Low Risk... They told him to go with vidaza after the marrow test, but after the last (and better) bloodtest results, they decided to keep him going on Eprex...

The complete story is that at first, they told us he was at RAEB1 (2 months ago) but suddenly a new clinical trial appeared where they wanted so hard to put my father in. They said "It would be good for him to get a little worse so he can enter the trial"... thats hard to hear, wouldnt it have been better to keep being stable?? BTW, the trial was just vidaza + rebolade (good for platelets).

They did all tests again and finally told us that he was "good" to enter cause he had got worse, but the date expired so he couldnt...
On top of that, the marrow results said he had the del5q and del20q with 5%blasts, and in another page of the same document the number was 11%... they told us it might have been an error, but the true one was the 11%... ALL SO WEIRD, i dont know...

MDS is very scary, I know we are all in the same page here, but is it always this confusing and misleading also??

Thank god there are groups and forums like this one where we can share and help each other (Im new to this, but I hope some day I would be able to help others with my experience also).

[bailie]

Juan, tests can be inconsistent from one test to the next. It is the trend that really tells the story. Do your best to somehow get the Vidaza. I too was diagnosed with MDS (RAEB-2). The Vidaza was the only thing that would prolong my life.

[Juan]

Hello to all and thank you very much Bailie for your advise

In our last visit to the doctor, she told us that my dad's blood tests were getting better thanks to Eprex, close to normal (everything but the platelets, which were low but not very low neither), so she told him to stop Exjade and start taking Eprex once every ten days instead of once a week. She also said she was going to review the marrow tests they did to him in case blast counts results were somehow wrong (apparently sometimes its easy to mistake a blast from a normal cell... dont know). I asked her if all this might mean that he is still RAEB1 and she said "maybe"... I dont know what to think cause even if all this is true and there was a mistake, I still dont understand the 5q and 20q mutations and their relevance in the big picture...

Our next visit is next week (so scared), I'll let you all know what happens then.

THANK YOU ALL

[PaulS]

That all sounds like good news. I'm glad he's responding well to the treatment.
There can be a lot of ups and downs - this is an up, so enjoy the moment.
Good luck with your next doctor visit.

Best,
Paul

[Juan]

Hello to all,

Following up since my last post:

For the past weeks my father kept on taking the EPO every 10 days + exjade and the doctor was surprised on how much it was increasing reds and whites (up to normal counts). She also re-viewed the marrow results from last time, and told us she was seeing no more than 6%blasts (maybe when they told us it was 11% it was "an error"). So, things were apparently developing as good as it could... The "only" con, was that platelets were decreasing a bit...

She told him to take corticosteroids one week in case something else was destroying the platelets, but today, a week later it has kept decreasing and count is around 14...

A new doctor, (who never saw my dad before, cause his usual doctor was out today due to an important family matter), told us the MDS "might be evolving", wants to make a marrow extraction next week, and told him to keep on the same medication.

I don't know if its the contrast between last weeks good news and todays possible bad news, the cold as ice new doctor, or maybe a mix of everything all together, but since we left the doctor, i cant help but feeling like crying (and trying not to in front of my dad).

Anyone has any tip on this low platelets count?
Could it be possible, that whites are destroying the platelets now that they are "stronger"?
Might the EPO be influencing the platelets count?
What could "evolving" mean? leukemia?
(I know all these are questions to ask the doctor... but we were shocked by her coldness and the bad news... sorry I ask too many questions).

SO SCARED (again and again)

[PaulS]

Hi Juan,

First - try an avoid the cold doctor at all costs - its important to have a doctor you feel comfortable with and can trust - the disease is scary enough - information should be presented and discussed in a way that doesn't induce unnecessary fear. If your too afraid it can be difficult to ask questions or hear/digest the answers.

Why is your father taking Exjade - I thought they were stopping that?
How low were the platelets before? Platelets counts aren't that accurate so they will vary from test to test - the trend is more important than any single test. I can't speculate on why the platelets may be low - nor what the doctor meant by evolving - other than its changing as platelets are now low and the other counts are not especially - the BMB should hopefully help understand why and what to do about it.

When was the last BMB? - not necessarily a bad thing to do if there is a change in the blood counts - especially given the uncertainty of the last test - the quality of the marrow sample may influence the accuracy of the blast count - After going a few years low or zero blasts - I had a count of 8% - which my hematologist thought was not accurate due to a "patchy" sample - and closer to my transplant they were much lower in a new biopsy - reading the BMB is a bit of an art I think.

Don't let fear overwhelm you - there will be plenty of ups and downs along the way - important thing is you still have your father and try and make the most of your time together - MDS was great at reminding me to be thankful for life, family and other loved ones.
Best,
Paul