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Old Sun Jun 5, 2016, 02:52 PM
kyis kyis is offline
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Join Date: Jun 2013
Location: Marin, California
Posts: 56
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.
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Male 56, MDS 2008, pre SCT Hypocellular 5-30%, Normal Cytogenetics. WBC 500, anc 45, Blasts 15%, Platelets 45, HGB 7, RBCC 1.71, HCT 20.5, MCV 120. Became Transfusion dependent 3/2016. 5 cycles VIdaza started 3/14/16 which reduced Blast counts. . Marrow Transplant 9/1/16, Hereditary MDS/AML.
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