Modbury 123

[Modbury123]

hello I am hoping someone can resolve something for me .I was diagnosed with ET plus Jak2 in 2022 treatment since then I have been on Hydroxycarbamide plus aspirin on the whole I manage it all fairly well and feel fortunate at 80yrs to enjoy a busy life .

My question is on my NHS. GP record it states I have ET sometime ago I asked my GP should my records read ET plus Jak 2 his answer was that the Jak2 blood test is just to identify you have ET.

Please correct me if I am wrong but if I understand you can just have ET with out Jak2.

therefore if you have plus Jak 2 should it not say that .

I would appreciate any help to resolve my thinking .

Best wishes to you all

Modbury 123

[EPguy]

You are correct. ET can have one of three mutations, Jak2, CALR, or MPL. It can also have none of these "triple negative" which could still have other unknown mutations. It's worth knowing your mutation to guide potential treatments and esp if you were to enter a trial. But the basic Dx title usually does not have the mutation stated, it's more likely in the notes or other report. If it's not anywhere reasonably findable you're right it should be added.

[lizzziep]

On my nhs app you can access documents sent to your GP, on the letters from the haematologist to the GP, each one states I have MF plus the mutations, it’s the same on every one the last sentence changes each time with what my latest blood results were. Just the platelets, haemoglobin and white blood count.

I can’t access any hospital records, those seem to belong to the secret service!

[ainslie]

to be precise you are correct and your GP hasn’t got it quite right, if my memory serves me correct about half of ET patients are not Jak2 positive. Others on here may have the exact stats.

[hunter5582]

You are asking a slightly complicated question. There is only one ICD-10 diagnostic code for Essential Thrombocythemia (D47.3). There are no modifier codes for ET. However, you are correct that the JAK2 matters. The driver mutation (JAK2, CALR, MPL) is part of determining your risk factors, treatment plan, and prognosis. The non-driver mutations (e.g., ASXL1, TP53, IDH1/2, etc.) can also have clinical relevance but are not always tested for. All of the genetic information relevant to the MPN should be included in your medical records but they do not change the diagnosis.