DDX41 Hereditary MDS, AML

[kyis]

I recently found out I have a mutation of DDX41.
You can google lots of recent papers and research, but this is quite interesting and should be closely looked at if you have any family related blood cancers.
My Father had AML and past some 27 years ago. Now I have MDS for the last 8 years or so. Basically I had a 50/50 chance of inheriting from my parents and the same goes for my offspring. My sibling who is a bmt match now also has MDS. My other 2 siblings are not matches but are fine. I don't know if they have DDX41 mutation (yet). More to follow I'm sure.

https://consultqd.clevelandclinic.or...lder-patients/

http://www.mdpi.com/1422-0067/17/6/838/pdf

http://www.bloodjournal.org/content/...o-checked=true

[lisa3112]

Thanks for info. Why don't heamatology team tell patients that family should be tested for mutation? I have runx1.. shouldn't my 1 yr old be tested? I will discuss next appointment. Thanks!

[kyis]

I don't know much about RUNX1. It may only be an acquired mutation, but if you read any of the articles certainly a knowledge of family medical history is becoming a bigger role and yes I'm sure donors will start being checked for these types of mutations. That will be a slippery slope also. A guy gets a swab for be the match and now finds out he has a mutation that could or couldn't be an indicator for some sort of cancer.
All of this research is very new and they need know which needle in the haystack they even are looking for and will that needle come back to poke you.
They can determine by skin biopsy and growing in a lab if the specific mutation was acquired or if I was born with it. I was born with it. They know that gene is a tumor inhibitor, but not much more. They have tons of works to do still and of course that will require lots of Money.

Testing children at this time could help research depending on the case, but If I was a kid or teenager I wouldn't want to know, as there is nothing that can be done at this time. And of course if I didn't know there was even a test that would be great too. And but Of course once they make any kind of determination that early detection can be slowed or stopped that would be great knowledge. Everyone's personalities are different too. The one article articulates on counseling and feelings dealing with psychological aspects of passing this along to offspring etc. I'm dwelling on the thoughts myself.

My next wondering will be about chromosome 5 as apparently this is where DDX41 is. I still have normal chromosomes but I have mutations on genes. I guess some studies are indicating Revlimid may be having some success with DDX41 even though there is no Deletion 5q. Hopefully this continues to become more interesting.

[bailie]

It is interesting. They had me on Revlimid (with Vidaza) for the last three months before my SCT. There was no known reason except it might do something positive that they didn't know about.

[kyis]

Do you think the Revlimid helped?

[bailie]

Good question. I think so many of these procedures have unknown results. The feeling is that "it might help, but we are not sure why". The cumulative results from so many of the studies indicate that there is something working in so many situations that it is worth the effort to try if they know there will be no harm. It is much like "throwing paint at a wall and hoping that something sticks". Many times something sticks.