Unclassified Myeloproliferative Neoplasms

[ilc72]

Has anyone else been given a diagnosis of an Unclassified Myeloproliferative Neoplasm?

Originally my diagnosis was PV however was tested for JAK2 and EXON12 mutations which were both negative. I have had two Trephine Bone Marrow Biopsies, one of which indicated MPD features but atypical.

I have had tests to rule out Secondary Erythrocytosis diagnosis, CT, Lung Function, Sleep Tests etc. to no avail.

The consultant indicates that my elevated EPO is not consistent with PV (usually low or normal) but Spleen is enlarged and have all the symptoms usually associated with PV.

I'm totally fed up and being an Engineer and a Project Manager I need a diagnosis to get my head round!

Thanks Ian....

[Aime]

Hi Ian

I was told I have PV although Jak2 negative. Why don't you put a question directly to Maz to see if Prof Harrison can help you. You are entitled to a second opinion but Maz will direct you. I will drop you an email at home tonight so you can get my email address and start buddying.

Kind regards

Aime

[jane13]

Hiya,

Good idea to ask via Maz or just badger your own haematologist (I'm not sure that it's strictly true that you are "entitled" to a second opinion unless there is deemed to be a good reason for this - seems to depend where you live).

To speculate, you do sound unusual, but may be you have something midway between the "pure state" MPNs, not quite PV or ET etc. I have this and I think several other people in this forum have similar. Some of the clinical literature also suggests that intermediate and changing MPNs are recognised.

good luck

Jane

[ilc72]

Thanks for the advice....

My Haematologist has mentioned both Prof Harrison and Prof Porter both in London, he has indicated would like a second opinion from one of them.

My condition is changing, when diagnosed initially led a relatively normal life, but since a botched operation where I ended up losing about 6 units of blood and required a transfusion my illness has spiralled downwards rapidly.

I'm currently in hospital waiting for more tests but my Spleen, initially normal has become larger. In reality the "label" doesn't matter as much as improving quality of life. What worries me is that venesection is becoming very regular 1-2 weeks and as I understand this is not sustainable in the long term.

Hoping to be transferred to my local hospital under the care of my Haematologist soon, then well I'm well enough hopefully get a referral on.

[jane13]

Hey, bad luck.

I had venesections x2 per week when first diagnosed, to bring my blood counts down, now onto hydroxy, with venesections every 2 months. Hope it will be simialr for you and that you get stable and home soon.

jane