August 21, 2020 at 8:20 am #52710Anne EllisParticipant
Hello Mrs warriors. My name is Annie my twin sister has been diagnosed with MDS for the last 4 years. She’s at a point where she’s receiving blood transfusions every two weeks. She is an eligible for stem cell transplant because of kidney failure due to other issues. Her bone marrow biopsy showed a mutation in runX1 gene.
an effort to find out whether or not it is hereditary because I am her twin I had something attic testing done buy invitae labs, and was found that I am positive for a mutation in runX1.
My sister is trying to tell me that having that mutation does not mean I will get MDS. I feel like in reality if my twin sister has MDS and run X1 and I also have run X1 I would think it is most likely that I will at some point get MDS or already do have MDS.
Neither one of us really understand this very well and I am looking for an honest not sure coded answer as to what this run X1 means for my chances of developing MDS. I am going to have a genetic counseling appointment at 7 am but I have a feeling i will be the I told the tow the line answer because they don’t have “evidence” . I’m not looking for scientific evidence more just practical answers. Can anyone here please give me your opinion and your experience with the occurrence of mutation in run X1 gene? I feel that maybe in the general population having a run X1 mutation is not a clear indication that disease will occur, but when you have a twin sister who has severe disease it most likely increases the likelihood that I will in fact develop disease. I have had my white blood cells sitting on the low border for 2 years now. platelets have dropped consistently over the last two years as well, but still within normal. I know firsthand the suffering that MDS patients endure, and send you my deepest love and respect. Wishing you wellness,
AnnieAugust 23, 2020 at 7:09 pm #52712
I feel so much for your situation as I am in a similar one. I think everyone feels more comfortable when someone will give their frank opinion of what might happen… their best educated guess. Hearing that there are too many unknowns or that your situation is too unique for them to hazard a guess is extremely hard to hear. I have done a fair bit of reading on MDS because I have CCUS. It seems that RUNX1 is associated with poorer outcomes in several MDS studies and that there are many ways that it can interfere with normal cell processes if it is mutated, possibly leading to some sort of hematologic cancer. I hope you’ve had your genetic counseling appointment by now and that they were able to give you more information. Sorry I can’t give you the answer you sought but I hope it helps to know that someone else shares your feelings, wanting so very badly for a doctor to say what they’re thinking without holding back. For now, I guess we’ll just have to wait and live with the fact that we have things in our medical history that are associated with cancer and cause an increased (but difficult to quantify) risk.August 25, 2020 at 5:37 am #52718Anne EllisParticipant
Thank you so much for your reply!I wish you weren’t fishing uncertain diagnosis as I am but I will say that you are right it does help to know that there are others who understand how I feel when struggling with actual answers. I did speak with the cannot assess who spent a very large amount of time with me but still told me that my particular variant is uncertain to the point where if I or my children have specific symptoms they would then we classify it and it would not be uncertain. in other words we would be the deciding factor for them to say yes it is exactly a pathologic illness. I saw my primary care doctor this morning who completely pooh-poohed the whole idea and despite the fact that I have the letter from the geneticist. he did in the end agree to send me to hematology because he can’t exactly not do so if I were to end up with leukemia he would have his butt died, lol. I have had my white blood cells be right on the cusp exactly at 3.8 for two years it sometimes goes down to 3.5 but it never goes any higher than 3.8. I was told by a hematologist when my son was sick that it is completely abnormal to not have fluctuations in to the higher levels. The normal high being 13 means that at some times you should be in the mid-range and sometimes you may be low but the fact that your white blood cells do not move around means they’re not operating properly. I’m going to go look up CCUS and find out more about it. Have you’ve been diagnosed with CC us and just don’t have very much information about it or is the diagnosis still in question? Is it a genetic problem like mine is? I just wanted to check in and say thank you for your reply. I will be seeing a hematologist probably within the next few weeks I put in a call but I have to wait for a call back in order to schedule an appointment. Nobody ever actually answers the phone to schedule an appointment anymore. I have to admit that being that they are hematology and oncology I am not their most urgent patient which I am thankful for. I am willing to take a back seat on this one. I do however have thickening in my stomach and a lot of stomach pain and have lost 25 lb in a short Of time. I had no idea that that actually could be symptoms of leukemia so I’m a little more scared then I thought I should be. I also am postmenopausal and just this morning found some spotting. Uggh! Just seems like every symptom is not enough to really be anything but enough to make you go crazy. Thank you so much for replying and understanding. I wish you the very best and hope that you have answers as well!August 25, 2020 at 7:46 am #52720
My white cell count started declining a couple of years ago into the 3s. Now it never goes higher and sometimes dips into the 2s. It’s been as low as 2.2. 2019 was my year for hematologist referral and after about 9 months and a great deal of tests on my peripheral blood which ruled out pretty much all other causes, they did a bone marrow biopsy and found an overabundance of very suspicious looking platelet precursor cells. The testing also showed I have several chromosome abnormalities which are associated with myeloid cancers. They referred me to a specialist as they were pretty sure I had cancer. This link will describe a bit more about CCUS if you’d like to read it:
https://blog.dana-farber.org/insight/2019/04/what-is-clonal-cytopenia-of-undetermined-significance-ccus/. It’s relatively short.
While my diagnosis isn’t in question, I still struggle with much uncertainty because, thus far, I do not have the same type of genetic mutations that you have and most people with CCUS have. Hence, I don’t feel that the page you read outlining risk to progress to cancer applies much to me because I’m different. It seems like I have many things that point to cancer but that they don’t meet the formal criteria for either diagnosis they’re considering (MDS vs. myelofibrosis). They are retesting tomorrow for genetic mutations because the last test was done by a different facility and might not have tested for the same things. I know they were surprised that I don’t have any so now I’m nervous that the new test might turn up some! I feel like so little is known that I requested a repeat bone marrow biopsy to see if anything had changed and they agreed. That will be tomorrow too. I’m a bit nervous about everything. It’s hard to put it out of your mind when you have to be monitored every 3-4 months!
Regarding your situation, 25 lbs of weight loss in how long? Did you discuss this with your PCP or mention it when you left word that you needed to make an appointment with a hematologist? If this weight loss was fast and unintended then, you need to speak to them about it ASAP as it could be significant as a symptom.
Take care, ErinSeptember 19, 2020 at 9:30 pm #52872DonnaParticipant
Hi Anne….I would think your doctor will want to check out both the 25 lb weight loss and the spotting after menopause. I hope all is well. As far as the RUNX1, I have that mutation too along with ASXL1, TET2 and SRFS2. In fact, RUNX1 added another one in my last biopsy. Same mutation but with different numbers after it. Now they call it RUNX1 X2. I started with CCUS about 4 years ago. My PCP sent me to a hematologist when my WBC went to 3.8. Since then it has been a gradual decrease. Eventually my RBC and platelets were involved. My first bone marrow biopsy said probably evolving into MDS and they put me in the CCUS category. A year letter my biopsy confirmed MDS. I eventually started Dacogen infusions 5 days/month, had 3 cycles and my numbers dropped so low, we stopped. Then we waited 5 months and tried again, this time it was to be every 3 months instead of monthly to see if I could tolerate it better, had 1 round then COVID hit. I am only having blood work monthly now. Chemo helped my platelets but did nothing for my WBC (runs around 1.2 and neutrophils at .4 now) and made my anemia worse and I needed several blood transfusions, which I didn’t need before treatment. So I guess I’m kind of watch and wait again. My MD said when platelets drop, we’ll maybe try 2 or 3 days/week instead of 5 or try the new oral Dacogen. I don’t have living family members to check the RUNX1 but I did have a first cousin pass away from AML but I couldn’t get his records. My doctor would have liked to see them to see if there was a familial link. Well, best of luck to you.
October 6, 2020 at 8:49 pm #53121
- This reply was modified 3 years ago by Donna.
Was thinking of you recently when I had a genetic counseling appointment for inherited genetic testing. I was asking them how much is known about risk with certain genes related to blood cancers and disorders. She happened to bring up RUNX1 as an example and said patients with it have a 50% risk of MDS or AML in their lifetime. I know you had brought it up on this message board so I wanted to get back to you with the information.
Hope you are well, Erin
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