Who has been diagnosed with a MPN without having had a bone marrow biopsy?

[Reflex4]

I was always led to believe that a bone marrow biopsy was the only way to truly diagnose a MPN. This is another example of Myeloproliferative neoplasms being so confusing as I have read today on this forum that people have been diagnosed without one! How can this be?? I look forward to hear from you all

[piggie50]

Hi reflex4, I was diagnosed with PRV 8 years ago and only had a bone marrow biopsy in September last year. PRV can be diagnosed with just a blood test. I also had a scan just after diagnosis to confirm the size of my spleen, which was enlarged. I was told that a BMB was not necessary for diagnosis any longer. I am Jak2 positive, I don't know if this makes a difference?

Regards x

[Reflex4 in reply to piggie50]

Hello piggie50, Thank you for your reply. My partner was only diagnosed with ET last April and is Jak2 Negative, and they did a biopsy on him straight away to confirm if he had a Myeloproliferative neoplasm or not, as they said it was the only really way to know for definite if it was a MPN. I just find all this so fascinating as we are all being told different things.

[Loubielou]

Hi yes I find this confusing too! My ET diagnosis was made solely on the basis of blood test results. 4 years on and I feel increasingly uneasy about this, and am planning to get a referral to see another haematologist. (My current consultant didn't think a BMB was necessary).

[Reflex4 in reply to Loubielou]

Hello Loubielou, after reading all the way down to the bottom of the forum and seeing as Maz got back to us with an answer do you mind me asking if your are Jak2 positive?

[Loubielou in reply to Reflex4]

Hello yes I am JAK2 pos. it'll be very interesting to see what comes back from Claire Harrison.

[Reflex4 in reply to Loubielou]

Prof Claire Harrison's answer is below It all makes sense now to me (I think, lol). Beginning JAK2 positive shows there is a known mutation so no BMB required for diagnosis. That's my understanding of it anyway

[ilc72]

The diagnostic criteria have changed, have you been tested for the JAK2 V617F mutation?

If so, was the result positive?

If you have been diagnosed with PV then 98% of people with PV have the JAK2 V617F mutation.

That said it is generally useful to get a Trephine Bone Marrow Biopsy done for a reference point.

However be careful what you wish for as they can be very unpleasant!

Regards Ian

[piggie50 in reply to ilc72]

Hi Ian,

I agree. I went for nearly 8 years without one and it really didn't bother me, I trusted in my heams judgement. I only had one prior to starting Hydroxy as a reference point to see how the drug was working in the future.

Judy

[piggie50]

Hi Maz,

I hope you are well. I wonder if you could get the definitive answer from Prof Claire Harrison on this.

Thanks

Judy

[Mazcd Partner MPNVoice in reply to piggie50]

Hi Piggie, yes thank you I am very well, as I hope you are, and everyone else. I have asked Claire for an answer about this, I will post her response as soon as I have it. Best wishes, Maz.

[tommy123 in reply to Mazcd]

could you let me know when nex meting is

[Mazcd Partner MPNVoice in reply to tommy123]

Hi Tommy123, we have 2 forums booked so far this year, Colchester on Wednesday 29th January and Belfast on Tuesday 25th February, details for both forums are available on our website = Colchester mpdvoice.org.uk/get-involve... and Belfast mpdvoice.org.uk/get-involve... Kind regards, Maz.

[Val_P]

I was diagnosed with ET in 2008. To date I have never had a Bone marrow biopsy, although it has been mentioned occasionally by my haematologist. My diagnosis was made on blood results over a period of time. The year prior to diagnosis I had several admissions into hospital for various investigations due to vague symptoms of my undiagnosed MPD. Once I was finally referred to a haematologist who said that the diagnosis was clear from the history of my numerous blood results and have no need for a biopsy. I was later transferred to Guys Hospital. Who occasionally mention me needing a biopsy but so far this hasn't happened. I am being treated with 2000 mg (2gm) Hydroxy daily, and my platelets are at last well controlled. However I now suffer with terrible fatigue and am on long term sick leave.

[Reflex4 in reply to Val_P]

Hello Val_P, do you mind me asking if you are Jak2 positive?

[Val_P in reply to Reflex4]

No I'm negative. Do you think that makes a difference?

[Reflex4 in reply to Val_P]

I'm back to being confused! LOL. I thought I had it figured it out after reading what Prof Claire Harrison had said. But since you are negative which is the same as my other half I'm none the wiser! I thought being JAK2 positive showed there is a known mutation so no BMB was required for the diagnosis - How wrong am I? LOL.

[Reflex4]

Thanks for all your replies, I think that is a good idea piggie50 to ask Maz

[sjdard]

I was diagnosed with ET in July 2012 from a blood test only. I am JAK2 positive and was told that I don't need a bmb. Im on 1500mg hydroxicarbmide daily and my platelets are well controlled. I see the doc every 3 month for blood test (Chelsea and Westminster hospital). I think it down to the doctor you see. I know it can be painful having a bmb but I would like one even if it's only form a base line to see how the condition progresses.

[Little-friend-Susan in reply to sjdard]

When I was referred to a haematologist because of a high platelet count, 1200, it was suggested that I had ET. If I was lucky the diagnosis could be confirmed on blood test alone but if not I would have to have a BMT. Guess what, I needed to have a BMT! JAK2 has never been mentioned and I have only heard of it on this site.

[Reflex4 in reply to Little-friend-Susan]

Hello Little-friend-Susan, I wonder if you are Jak2 Negative and that is why they then proceeded with the BMB? Interesting.

[beetle]

It is twenty years since I was diagnosed with ET and maybe things were different back then but I had a very experienced Haematologist at the time and she said there was no need for a BMB as she had no doubts about the diagnosis. There were no internet sites for discussion back then and info was in short supply so I guess I didn't think anything of it. When I went to the most recent in the line of Haematologists she was absolutely amazed that I had never had a BMB. I didn't escape with her though as she rightly suspected that my ET had progressed to MF. I dare say that I will have more of them as this beast progresses too!

[Reflex4 in reply to beetle]

Hello beetle, sorry to hear your ET has progressed to MF, its a very scary thought for us at the moment as my partner was only diagnose 9 months ago when he was 45. Are you Jak2 Negative? All the very best for your future beetle.

[mark382]

I was diagnosed with PV about 5 years ago as my bloods were found to be very high. I am JAK 2 negative and have had scans of my spleen, liver and kidneys - pleased to say all were clear. My haematologist is brilliant, can see her when ever I want between appointments. When asked about my condition she said all she could say was I had some form of PV. At the moment I'm on aspirin and venesections as required. Don't fancy mentioning about bone marrow biopsy, sounds a bit daunting!!. All the best to all. Marc

[Mazcd Partner MPNVoice]

Hi everyone, I have had an answer from Prof Harrison about whether or not a bone marrow biopsy is required to diagnose a MPD - It will depend upon the MPD eg for PV it is not but most people would prefer to do a BMB to diagnose ET or PMF however it is not always strictly needed..

I hope this helps, Maz.

[Reflex4 in reply to Mazcd]

Thank you Mazcd for finding out an answer. As my other half presented with ET maybe that is why I was led to believe he needed to have a BMB to be sure of the diagnosis. I still find all this fascinating. Thanks once again, Lorraine

[tommy123]

could you let me now when next meting in london is

[rubyrubyruby]

I was under the impression that a BMB is more to do with assessing the state of your bone marrow so there is a benchmark for monitoring its deterioration ! A repeat BMB at a later date would then show any changes to the bone marrow. I had a JAK 2 diagnosis and then a BMB.

[Reflex4 in reply to rubyrubyruby]

Hello rubyrubyruby, are you Jak2 Neg?

[rubyrubyruby in reply to Reflex4]

No, positive!

[Aime]

Hi Reflex4, I was diagnosed with PRV in 2012 without a bone marrow biopsy. Apart from blood tests, I had an ultrasound abdo scan, ct scan, blood mass volume nuclear test. I am Jak2 neg.

Regards Aime x

[tommy123]

is there any in london this year

[mol56]

I was diagnosed with E.T. in 2005 after numerous blood tests, an ultra scan to check the spleen and a BMB ( taken on my 31st wedding anniversary!). I was tested for JAK 2 last year after I requested it. I am negative. I have only had the 1 BMB.

Reflex4, this is a very interesting question you have posted.

[mac77]

I was diagnosed with ET (JAK 2 neg) 20 years ago when I was 17, I was diagnosed after regular blood tests. it wasn't until I moved from the north of Scotland down to London at 22 when I had my first appointment at St Thomas's that I had A BMB, i have moved back north again and have so far had 6 of them (might be because i am part of the PT1 trial) they seem to be every 2yrs .

[Tinkerbell13]

I had a blood test taken and sent to Cambridge which came back Jak 2 positive so never needed a bone marrow biopsy...trust same could apply to you...best wishes, Tinkerbell

[andrewschorr]

They were pretty sue I had PMF because I was JAK2 positive. But they did do a bmb to confirm it. And it gives them more information about the stage. Right now it seems necessary. I have a video about bmbs and their utility for this coming soon.

[jillydabrat]

I have been diagnosed with blood test only as they found the jak2 gene mutation which is found in 80+% of people with MPD's. If no mutation is found then a bone marrow biopsy will be ordered.

[rubyrubyruby]

Next week I have my second BMB, I feel sick at the thought of it!