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Mutations. Meeting with hematologist tomorrow. Does anyone have insight into this?

April 29
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A myMPNteam Member

I am Essential Thrombocythemia Triple Negative. I am not aware of any other genetic testing performed (no results provided to me). No bone marrow biopsy. HEM told me there was a 60% chance it would NOT show anything conclusive and only show what we already know. Platelets started getting very high so HEM started me on Hydroxyurea to reduce the risk of blood clots. Previously already on baby aspirin to thin blood.

May 7
myMPNteam

It's completely understandable to feel uncertain heading into that appointment tomorrow. The good news is that testing negative for the three primary mutations (JAK2, CALR, and MPL) doesn't automatically rule out an MPN diagnosis.

A small percentage of MPN cases are what's called "triple-negative," meaning none of those Show Full Answer

It's completely understandable to feel uncertain heading into that appointment tomorrow. The good news is that testing negative for the three primary mutations (JAK2, CALR, and MPL) doesn't automatically rule out an MPN diagnosis.

A small percentage of MPN cases are what's called "triple-negative," meaning none of those three mutations show up — but other genetic changes may still be present. Some myMPNteam members have been in exactly this situation, where standard mutation tests came back negative but other diagnostic tools pointed clearly to an MPN.

Doctors use a combination of tools to reach a diagnosis, not just mutation testing. These can include:

- Complete blood count (CBC) to look at blood cell levels
- Peripheral blood smear to check for abnormal or immature cells
- Bone marrow biopsy/aspiration to look for physical changes in the marrow
- Cytogenetic testing like FISH or qPCR to find harder-to-detect genetic changes Going into tomorrow's appointment, it may help to ask your hematologist specifically about triple-negative MPN and whether additional genetic testing is being considered. Writing down your questions beforehand can make the most of that time.

You've got this — and asking the right questions is already a great step forward! 💪

April 29

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