Just got my blood test results today. I have MDS

@sonieaml
I was diagnosed with MDS/MPN/sMF in 2017. The molecular panel indicated I have the JAK2, SF3B1, SRSF2, and IDH1-R132H mutations. I had labs on Monday and the pathology report came back indicating the number of blasts has increased significantly which indicates disease progression. So my Oncologist at Sloan requested more labs and a sonogram. Depending on what these new tests indicate I may have to have another BM Aspiration and Molecular panel. So tired of this nonsense.

@mjpm2406 the only mutation I can relate to at this point is the newly found SF3B1 found during my BMB in December as I shared before. My FLT3 and NPM1 mutations (AML) are tracked with the MRD blood test which I had last Thursday. That blood draw is run every 3-4 months. Those results should be back next week.
However you are almost 10 years out from your initial diagnosis, right? When you got diagnosed did you think you’d be posting in 2026? I certainly didn’t think I would be doing as great as I am. The tests, treatments and options have improved so much for AML in just the last 2 years!
I hope your test results will be definitive and your Medical team puts you on a path so you can improve with each passing day. Thankfully for now the MDS isn’t an issue and this December is when I have a BMB looking for SF3B1 mutation. If anything has changed my HemOnc MD’s will have a plan of action I am sure.
Keep us posted on your path please.

@sonieaml
The SRSF2 gene us a splicing gene normally associated with MDS. The JAK2 gene is normally linked to MPN disorders. The SF3B1 mutation is also a splicing gene and is normally linked to MDS. The IDH1-R132H gene mutation is typically linked to AML.

@sonieaml
When I was diagnosed with MDS/MPN/sMF in 2017 my Oncologist at Sloan said the life expectancy for this overlap disease was 5-10 years and that it would most likely mutate to AML. Originally, on the MPN component, I had ET, with a platelet count of 80,000. Last year the MPN component mutated to PV. My platelet count is now around 100. With PV, your red blood cells become overactive and they get very large. So I have to get a phlebotomy every month. My current labs indicate a significant increase in blasts and the amount of immature white blood cells. That most likely means AML but I have to undergo more tests to confirm that. I know that once you get AML it's really tough. We’ll see.

@mjpm2406 Thank you for that breakdown and description!
After my induction therapy the AML treatments have decreased significantly. From Dacogen 5 days every 4 weeks along with Venclextca for 14 days to 1 day of Dacogen and 2 days of Venclextca every 6-7 weeks now. My CBC numbers (WBC/RBC/Platelets and Neutrophils and more) seldom get into the normal range. My Hem/Onc thinks the SF3B1 may be the cause.
I am actually a candidate for no chemo in my port/move to strictly pill form! The results of this latest MRD test will drive that treatment option. Granted AML is no cake walk but it is not the death sentence it was even 2 years ago. That is when I was told without a bone marrow transplant I could not be cured. I elected NOT to have a transplant and look now…no FLT3 or NPM1 mutations were found in Dec after being 89% of my blasts at diagnosis 2 years ago! My prayers and gratitude along with my AML team have me feeling so good I just started a second part time job. I am living my best life and give thanks every day. As we know every person will have their unique experience (read challenges). My prayer for you is you will also get to live your best life one day too.