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Monosomy 7 not showing on second biopsy

Home Demo forums Patient Message Board Monosomy 7 not showing on second biopsy


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    Had a bone marrow biopsy for a pre-clinical trial evaluation. They did the FISH mds panel to check the chromosomes. This is what was in the report. Summary – Hybridization patterns within normal values for chromosomes 5,7,8, 20 and KMT2A. The following page said ” In 200 interphase cells analyzed, all probes had normal patterns: thus there is no evidence for deletions, rearrangements, or trisomies for these chromosome regions.”
    To me it sounded pretty good. Haven’t heard from the doctor yet. I’ll hear from him sometime next week.
    Has anyone else had this happen?

    Dr. Lin

    Yes this is good news, meaning that your MDS does not bad chromosomal changes such as deletion of chromosome 7 or 17


    I have had a third bone marrow biopsy and this biopsy showed no evidence of MDS but the doctor said I had aplastic anemia and has been treating me for that. My blood counts are pretty good now and he has been lowering the dose of cyclosporine. What I don’t understand is how can my first biopsy show Monosomy 7 and my next two biopsies show normal. I had asked my hematologist if that meant I don’t have MDS and he said he can’t totally rule it out. He can’t say 100 percent whether I do or don’t He said he has been treating me for aplastic anemia and I have responded which is good. It just makes me wonder why a biopsy isn’t an absolute. Does anyone have any thoughts? It just kind of drives me nuts thinking about it.

    Cynthia Cowan

    So similar! Last year BMB confirmed MDS Trilineage Trisomy 8, ASXL1, Etnk1 and macrocytic anemia. I was low RBC, borderline to low HMG,HCT, Plt. After BMB 3 weeks ago my doctor said I didn’t have MDS because no dysplasia, only normal cells. Said I do have hypercelluar marrow 70%, Trisomy 8 and macrocytic cells and onky low RBC. Shocked, I asked if I actually don’t have cancer.. Like you it was ‘not exactly’ but his opinion is that I have MPN NOS but numbers don’t support that either. So no clear diagnosis except I have every classic symptom and he ‘thinks’ i will progress and is sure my symptoms are from. Myeloid disorder. He had to leave before I coukd formulate questions and I am waiting days now, for a return call from his team to clarify. I do know this is a complicated and complex disease but like you, if I don’t have MDS, what do I have and what is my trajectory and future. I’m so confused and lost. Not having MDS is good but what happened?? Hopefully we’ll get answers. Good luck to you on this complicated journey.

    Carol Ward

    I think with MDS you need a second opinion. I was diagnosed in 2016 with MDS. My problem
    Was very low platelet count. My red and white cells have been normal over the years. I need to have a hip replacement surgery so my doctor had me come in for a trial platelet transfusion twice and it did nothing to raise my count. I then was put on a steroid and my count shot up. Now I am told I have ITP. When I asked about MDS. my oncologist said well it’s the ITP part of the MDS that is responding to the steroid. How I read it ITP is a separate disease. I don’t think they really understand this disease themselves. They say 40% of people diagnosed with MDS is a mistaken diagnosis for other diseases.


    Yes, Judy this will occur when in treatment. I had a Second bone marrow biopsy at M D Anderson Houston ( May 23 2023); being preemptive for clinical trial for my TP 53 variant with del -5q, del 7q. Well, received all the BM results yesterday and glad to report that results show “normal” – that blurb you have in quotation marks. My understanding is the MDS is all ways present- has not progressed to symptomatic stage thanks to Vidaza treatment ( Cycle 7 at this moment). Good Luck with the Aplastic Anemia treatment.

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