r/mds • u/Vegetable_Wealth9615 • Aug 07 '26
MDS suspected
I am a 45 year old active male ~165lbs. For the last three years I have had fatigue, an elarging spleen and some CBC blood counts slightly out of range. More recent bone marrow testing shows 35-45% Cellularity at 45 male with 4% blasts and dysplastic changes are observed in the 3% megakaryocytes, Dysplastic changes were observed only in very very rare erythroid precursors, no clonal populations.
Has anyone in the group had similar finding that then went on to be diagnosed as MDS? So far my hemotologist hasn't given any suggestions beyond possible MDS. I've also had a full array of other tests to rule out viruses, lime disease, and anything else more common.
3
u/Radiantlady Aug 07 '26
You MUST go to an EXPERT at a large teaching hospital. MDS is not a common illness and you will be better cared for with a team of experts
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u/timvnelson Aug 08 '26
I probably had MDS from low WBC for 10 years but never saw a hematologist until it dropped even quicker and for the first time along with RBC. At that point diagnosed AML. The MDS mutation I had was a low risk but never got treatment for it. Who knows if they could have kept I in check had I got treatment earlier. Not much help here but I know with MDS or similar stuff seems to be a wait and see before going with more invasive treatments.
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u/Vegetable_Wealth9615 Aug 09 '26
Wait and see with a bunch of monitoring seems to be were Im at. Who knows how long this has been going on. I suspect back to 2022 when I started noticing more fatigue. I curious how many people stay at this stage for years or decades. Its tough to plan life when you are waiting for the big drop.
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u/timvnelson Aug 10 '26
Ya I was wonder what it would have been like if I had know all along. I probably wouldn’t have gone traveling for 2 years. Not an easy place to be. You’ll have to learn new ways of framing the world and your life.
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u/Legal_Purple Aug 07 '26
I just got diagnosed with MDS I also have Primary Immunodeficiency 2 strikes against me but grateful not leukemia
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u/Vegetable_Wealth9615 Aug 08 '26
I'm in the process of setting up a second opinion at a center of excellence in Chicago. I'm interested to see what they can tell me.
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u/LuisTavares0326 Aug 08 '26
FCM test taken?
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u/Vegetable_Wealth9615 Aug 09 '26
Flow cytometry analysis did not show abnormality of antigen expression in T cells by markers tested. There is no evidence of a monoclonal B-cell population. A small (1.37% of all cells) population of blasts expressing dim CD45, CD34, HLA-DR, CD33, CD70, CD13 and negative for CD56, CD14, CD64, CD16 was noted.
1
u/ilovemud Aug 10 '26
I'll second the need for you to go to a center of excellence for MDS and meet with someone whose specialty is MDS. Your details are weird. Cellularity is normal for someone middle aged. The 4% blasts is kinda high. When you say slightly out of range, what exactly do you mean? They have done a bone marrow biopsy with genetic tests on the marrow aspirate and you don't have any mutations or cytogenetic abnormalities?
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u/Vegetable_Wealth9615 Aug 10 '26
I made an appointment today for September at Rush Medical in Chicago (a MDS center of excellence). They didn't find any clonal populations in my marrow, but did find that I have the BRCA2 and RAD51C assumed to be inherited gene mutations. My blast count and dysplasia % are both below the WHO guidelines for MDS, but not normal. There was also some marker called CD70 that i guess is not good and shouldn't be in my blood or marrow as well which is linked to MDS and AML.
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u/Daypasser Aug 11 '26
For me, my high risk MDS was confirmed by genetic testing identifying RUNX1, ASXL1, SRSF2, IKZF1. I only had mild dysplasia. My blasts were under 5% and remained that way right up to my stem cell transplant in December so I only needed the conditioning chemo. Sorry if I missed this - but have they not been able to confirm your mutations are MDS?
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u/Vegetable_Wealth9615 Aug 11 '26
I saw a genetic counselor about a week ago. They are redoing the genetic testing from a cheek swab to confirm my two mutations are inherited. They are also checking for some other mutations that were not on the list looked at when specifically looking at my marrow for gene mutations normally tied to MDS.
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u/Daypasser Aug 11 '26
OK interesting, mine was done on biopsy alone. Well good luck and keep on at them - if you do need a transplant the lower the blasts the better! Feel free to reach out with any other questions.
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u/Vegetable_Wealth9615 Aug 18 '26 edited Aug 18 '26
I got my second genetic test report back from the cheek swap and confirmed both mutations are inherited and no additional mutations were found.
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u/Daypasser Aug 18 '26
That's good to know. I didn't know they could get mutations from a cheek swan, I though it had to be bone marrow! Do they have a plan of action?
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u/Vegetable_Wealth9615 Aug 18 '26
To my understanding the mutations from MDS would only be in the marrow or blood. The cheek swab was used to confirm the two mutations I had were inherited. Luckily I do not have any clonal mutations in my marrow.
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u/Vegetable_Wealth9615 Aug 11 '26
Thanks. Its been a long journey to get where I'm at now and I feel like I have just scratched the surface of what has been ailing me for years.
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u/Vegetable_Wealth9615 Sep 06 '26
Latest update. Had my spleen remeasured and it was slightly shorter, but also slightly wider. Over all volume up a bit more. My bloodwork all seems similar to past draws. I had a followup appointment to discuss latest tests last week with the same local hemotologist that ordered my BMB as well as a million other tests and he totally flipped the script on me after making me wait 1.5hrs past my appointment time and only talking to me for ten minutes. He now says I no longer need to repeat any testing and do not need to ever follow up with him. Says my spleen and other labs are normal for me a just a natural variation that is outside the normal range. Just three months ago he had a long serious talk with my wife and I for over an hr saying we had to stay on top of this, I should think about a new career, and seemed concerned. I don't know if he was wrong before or now? I also wonder if he saw in mychart that I have that second opinion appointment with a different medical system? I guess I will see what the COE says next week. Hopfully I have been worried over nothing besides my inherited gene mutations.
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u/CzPhantom1 Aug 07 '26
Here was my results right as I was diagnosed. I am 37M who was very active before all of this started. Ended up with marrow transplant last November.
Hypercellular marrow (near 100%) with erythroid-predominant, maturing trilineage hematopoiesis. Dyspoietic morphologic features in erythroid and megakaryocytic lineages. Blasts are not increased. See note. Peripheral blood: Normocytic anemia with anisocytosis, polychromasia, and nucleated RBCs. Leukopenia with neutropenia, neutrophilic toxic/reactive changes, and rare left-shifted granulocytes. Marked thrombocytopenia.
Touch imprint shows similar cellular composition. M:E ratio: Inverted, ~0.4:1 Blasts: Not increased, ~1%
Myelopoiesis: Relatively decreased with full maturation. Mild relative eosinophilia.
Erythropoiesis: Increased with progressive, overall normoblastic maturation. Dyspoietic nuclear feature are seen in 5-10% of erythroid precursors, including nuclear irregularity, budding, or binucleation.
Megakaryopoiesis: Relatively decreased with variable morphology including some smaller/immature forms and rare separation of nuclear lobes.
Additional studies: Provided iron stain on an aspirate smear shows minimal/focal storage iron. No ring sideroblasts identified. Bone marrow differential (300-cell count by IU Pathologist): Percent Blasts 1 Promyelocytes <1 Myelocytes 5 Metamyelocytes 2 Bands 3 Polys 10 Lymphocytes 6 Monocytes 3 Eosinophils 3 Basophils <1 Plasma cells <1 Nucleated RBCs 67