I have been diagnosed with ET and had a BMB to help confirm it. My Heam said yes it is this, based upon exclusionary factors. Not sure if the BMP told him much. He said there was no iron stain in the reults, and that the cells had smiley faces on them...meaning more than one nucleus indicating unnatrual cloning. Then I read somewhere that paltelettes don't have nuclei- was he meaning my other cells (white and red) are abnormal (smiley faces=cloning cells), and that's how he suspected ET? What does a BMP result usually look like in the case of confirming ET?
Thanks and sorry for the confusing message!!!
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Jschwab
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The biopsy will show fibrosis if there is any. Also, since the hematocrit statistical distribution in ET and PV overlap, inspection of the marrow will allow a more definitive diagnosis.
Maybe. When mutations occur, cells in a nuclei increase in no. and change shapes. These are dysplastic changes. Maybe this was his way of describing it to you.
I recently had a tour of our hospital lab and was shown some ET bone marrow slides projected on a big screen from a rather nice microscope. I was rather reassured to see that the slide did look quite different, even to my untutored eyes, than a normal biopsy slide. There were many more platelets and there seemed to be more of the very large cells that the platelets are made from (megakaryocytes) visible too. Whilst the slide I saw was not my own one, I did feel far more confident of my ET diagnosis after what I saw (my own diagnosis depended on my bone marrow results rather than the JAK2 and one other mutation one that were both negative).
The link above is to the excellent, absolutely 5 star video from the NZ patient forum that stillkicking refers to. ( Hi, Peter) . Its by Prof Ian Morrison, and if you want more detail than just - I’m glad it’s not MF - you’ll find it a really good place to get information.
I've read thousands of blood smears in the veterinary field (dog and cat blood looks the same as ours) and I've seen a few bone marrow aspirate slides too and I still can't figure out what your doctor meant by smiley face cells. One of the things you will see on a bone marrow aspirate slide from an ET patient is megakaryocyte clusters. That was seen in my BMB sample even though the rest of it was deemed fairly normal.
Platelets don't have a nucleus but their precursor cell the megakaryocyte do have a nucleus. Megakaryocytes break apart and become platelets. When he was talking about smiley faces he must have been referring to the nuclei of the megakaryocytes.
I am thinking I should take the BMB results to someone who can interpret them more clearly for me. He said this BMB tells him that I do have ET. But I would like it explained to me better. Thanks again!
Hmm. Something I find interesting is that you didn't have iron staining in your sample which I wonder if that could indicate iron deficiency. Iron deficiency is a common cause of an elevated platelet count. But I do not know if iron deficiency can cause your megakaryocytes to look weird. In my BMB it was noted that I had reduced iron stores. I questioned what that meant and my doctor blew me off. Several years later when I was almost anemic it was discovered that I was indeed iron deficient. I think you are on the right track to get a second opinion.
I am iron deficient, and so he put me on iron pills. After 6 weeks my iron shows normal. Can it be changed that quickly? He often googles answers to questions I ask while i'm there too!!! LOL
He googles your questions...oh hell no...I'd definitely get a second opinion!!! 😄 I was retested after 8 weeks of my iron supplement and there was a noticeable improvement in my results. Did he retest your platelets at that point to to see if they decreased? My platelets went down 100,000 after taking my iron supplement. And let me guess...he didn't suggest that you find the cause of your iron deficiency?
This is the way I tend to look at ET: 1 in 8 women get breast cancer. But only 2 in 100,000 people get ET. So it's rare and many doctors will never see a case in their life and therefore don't know much about it. Oh and one more thing...my hematologist always told me to stop taking my iron supplement one week before retesting my iron because if you retest your iron after recently ingesting a pill it will give you incorrect results.
that's a very good statistic to know and really puts things in perspective. He seems very eager to diagnose this as ET. But you are right, it is so rare that maybe he just doesn't know enough about it. after 6 weeks of being on iron my platelettes went up, and he didnt check my iron! then after the appointment, after I was asking to get the iron checked, he did and they called saying that the iron was in normal ranges. meaning, it wasn't the iron causing the high platelettes. no he did not tell me what was causing the low iron. do you know what caused yours to be low? I think a specialist looked at the results but no one identified specific markers that stood out to be ET except that he spoke of the smiley face look of the cells.
My doctor didn't seem too concerned about finding the reason for the iron deficiency. When I brought it up he said it was probably because of my period. I said nope since I hadn't menstrated in 2 years due to birth control. Sorry if that's TMI. So then he referred me for an endoscopy to check for bleeding in the digestive tract which I never followed through on because I just couldn't be bothered. (A coworker at the time had a recent endoscopy and suffered horrible neck pain for months afterward due to a pinched nerve after his procedure. It scared me enough to make me not want to get the procedure.)
I'd definitely get a copy of that pathology report and then you can read it and google away.
I should add though if your doctor sent your bone marrow sample out to a pathologist (which I'm sure he did)...if the pathologist called it ET then you can be fairly sure you have the right diagnosis. It's just your doctor isn't explaining it well.
I had no iron staining in my first biopsy even though I am not anemic and my iron studies are all normal. The hematologist gave me a half dose iron infusion to see if my counts changed in response to rule out iron deficiency as a cause. It made no difference. My second biopsy did find minimal stainable iron and some markers for ET like an abundance of megakaryocytes, the cells that make platelets. One marker for ET is megakaryocytes that have “hyperlobulated nuclei” and I wonder if that’s what your doctor meant by smiley faces?
Those of us without mutations are harder to diagnose. It took me two biopsies over three years and lots of visits to specialists ruling out secondary causes but I did eventually get diagnosed recently.
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