ET without genetic mutation

[Lions3]

Just wondering if you can have ET without any of the genetic mutations?

[Mazcd Partner MPNVoice]

Hi Lions3, yes, I am triple negative ET. Maz

[beckyluck]

Hi,

I am also triple negative ET

X

[cmc_ufl]

I might be triple negative ET. Still in the diagnosis process. All driver mutations negative. Platelets 430-455 for 10 years.

[Eadaoin]

Yes. That’s me - no mutations found so far. I have ET .

[cmc_ufl]

There was a recent paper that came out from Claire Harrison's group that showed >20% of "triple-negative ET" patients they re-tested with next generation sequencing (NGS), which is much more sensitive than commonly used clinical assays, actually had driver mutations that were originally missed. I am looking into getting myself re-tested with NGS for this reason.

[GK40]

Yes I'm triple negative and had NGS and still nothing. BMB normal aswell. X

[cmc_ufl in reply to GK40]

Your BMB was normal? As in it did not indicate presence of MPN? What are your platelet counts?

[Elleuno]

YES, I am triple negative.

[GK40]

I had normal BMB. Was told it showed ET but nothing major, no scarring or anything else. Platelets currently at 720 and had HU upped to 3 a day so hoping for count around 500 at next appt in 6 weeks

[cmc_ufl in reply to GK40]

I guess I was a little confused because a “normal” BMB would not indicate ET. Unless you just mean it just looked normal for having ET. There are specific traits of an ET BMB (megakaryocyte hyperplasia, multiple nuclei, etc) that indicate ET and differentiate it from normal, healthy bone marrow.

[Woodlandgarden]

Hi Lions3, I am triple negative ET. My diagnosis was finally confirmed as "beyond doubt" by Haemo following a BMB.

[cmc_ufl in reply to Woodlandgarden]

What were your platelets at when you were diagnosed? My specialist is not pushing for a BMB because he says there’s a greater chance that it will be inconclusive than diagnostic. My driver mutations came up negative, but my platelets have been around 450 for a while.

[Woodlandgarden]

Hi cmc_cfl, my platelets were at 599 and rising when I had BMB in December 2019. Haemo ordered BMB because athough I had tested negative for all mutations my platelets were not reducing at all and he wanted to rule out MPN. He told me , when he gave me the diagnosis , that he was extremely surprised and did not expect this results from the BMB!

My GP monitored my platelets initially after carrying out blood tests due to levels of fatigue and light-headed episodes I was experiencing.

After monitoring these and my various other symtoms( I am highly symptomatic) for about 9 months, my Gp referred me to the haemotology Oncology department in my local hospital for further tests. She explained this was primarily due to my raised platelet levels which were not decreasing and needed to be checked further.

My platelet counts have continued to increase over the past year,:

599 December19/January 20

661 in July 20,

849 in August 20, a few other blood discrepancies also kicked in here!

656 in mid September 20.

708 in late October 20 .

My next test results are due later this month. Really not sure what to expect.

Fingers crossed they will be somewhere in the above range...