Low WBC, Low Platelets, Low RBC, Large cells - is it always Leukemia?

I saw the other latest comments including your dilemma with two vastly different treatment plans/diagnoses to date. Truly that's a sure anxiety producer. Also the classic "hurry up and wait" we all have from time to time. So sorry you have this going on. I'm going to have a "think" on this and may write more after if I come up with anything.

I do agree that only your medical team can get you what you need for diagnosis and treatment. Rather than two different diagnoses maybe what's happening is that this one wants to rule out other causes because your numbers are stable and there's time to do so. You're having two different diagnosis approaches. I like the latter longer one in case you don't have the suspected MDS. Differential diagnosis is a good thing and it takes time.

If the wait and labs and peripheral lab smears and such don't reveal a cause, I don't believe they can get there with confidence without a bone marrow biopsy with flow cytomegry and NextGen sequencing. Unless: the neutropenia and thrombocytopenia are being generated by a viral infection, or a deficiency somehow including the B12. Waiting to do a biopsy is reasonable if your numbers are kind of stable, to rule things out. Also maybe some fancy labs to detect viral presence. Seems like that's what's happening (?). One outlier is that these ae being generated by a problem elsewhere in which case a full body MRI/PET scan might be ordered to rule out.

Bottom line: Getting to an MDS or other bone marrow factory diagnosis (if above doesn't find something) will IMHO require the BMB.

So it's a hurry up and wait. Tests, tests, and more tests. Hopefully you're at Medicare age or have great insurance. The darn tests are a challenge for approvals.

I had no blasts and blood work normal...but doctor did not call it remission because I had some mutations....is this normal for lukemia...

Bettersleep68- Remission versus regression- whatever they call it we're blessed. What form of leukemia do you have?
I was diagnosed with CLL (considered an incurable form of leukemia) 25 years ago, my blood counts slowly worsened for 10 years than my blood counts improved and became normal within 5 more years without any treatment. All leukemia blood counts and markers like lymphocytes have been in the normal range for 10 years now but my oncologist still insists I get a CBC twice a year, but since I feel no physical symptoms I do it only once a year. Like you my Hematologist's/Oncologist's refuse to call it a remission, instead call it a spontaneous regression. CLL is not curable, however in my case and in less than 5% with CLL it reverts back into the bone marrow and lays dormant. Another bone marrow biopsy could confirm this if I wanted to deal with that miserable procedure again.

I just saw the pathology report from the 2nd hospital.

They noted DDX41 (R525H) (3% vax) as a possibility for MDS.

Is anyone familiar with this?

Hi there,

I also have a DDX41 mutation.

I'm not sure what hospitals you are working with but would highly advise you seek an opinion from Mayo Clinic. They are the experts in the field when it comes to DDX41 mutations. There are many sub-types of DDX41 mutations - some with quite good prognosis and other that might warrant going down the road of a BMT sooner rather than later.

It wasn't until I went to Mayo and met with their physicians that I felt I had a path forward based on evidence that I could understand myself.

Well, after switching hospitals for a 2nd opinion. The 2nd hematologist took a baseline CBC using their lab and suggested 4-more weeks of weekly b12 injections followed by an office visit and CBC. He was skeptical of the 1st diagnosis of MDS.

The new baseline was WBC-1.6, Neutrophil-.7, MCV-99, Platelets-85, normal red blood cells.

Today I went for the 4-week follow up visit and CBC (this is now based on a total of 9 weekly b12 injections).

All the numbers remained the same. The WBC went from 1.6 to 1.7

He is suggesting a b12 injection every other week, and in 6-weeks a 2nd bone marrow biopsy. He says he does not have a diagnosis as of yet.

I'm kind of confused, if I'm not responding to 9 weekly b12 injections, then doesn't it have to be MDS?

Again, I'm no physician.

It could very likely be MDS. Your numbers are similar to mine - low overall WBC, low neutrophils, low platelets, normal RBC & hemoglobin. If it weren't for routine bloodwork, I wouldn't know I have MDS. From what I've read, this is fairly typical of DDX41 driven MDS.

You can continue to work with your physician and I'm happy to see that they are exploring other angles. That's great! My physicians did the same but very quickly ruled out other causes after the bone marrow biopsy (I had 7% blasts on my first biopsy).

If you do truly have a DDX41 mutation, set up something with Mayo in parallel with what you are doing and let your physician know that he will be collaborating with them.

@asarnesejr I am curious whether you asked the Dr about the lack of response to the B12 injections? Also, with the mutation (ddrx1) noted in the pathology report, did he comment on that? @sherbs gave you some excellent advice about Mayo. If it were me, I think I would follow her advice. At least you will have a decision you can move forward with.

The doctor wasn't concerned about the type of ddx41 r545h (vax 3%) that I had. He was surprised that the 10 B12 injections did not move any of my blood counts. He told me that my 1st BMB was very detailed and almost all of it came back negative.

He reduced my B12 injections to every two weeks and is aware that I stopped drinking on July 5th. Told me that my white blood cells are 'funky' looking. But that my bone marrow output was at 40% which is good for someone my age (61).

He told me he can't make a diagnosis, because he just doesn't know yet.

He ordered another BMB in 6 weeks (3-months between the 2) and wants to see me with a CBC at that time.

Meantime, I am a total wreck, crying daily, thinking I'm going to die soon.