Re: ALLELE BURDEN FREQUENCIES IN MPNS IN AUSTRALIA?

[socrates_8]

Post by MPN-MATE Admin » Fri Oct 02, 2020 3:44 pm

UPDATE COMING...

Afternoon everyone,

The following is an UPDATE to my seeking answers about MPN Patients being enabled to obtain and order "Allele Burden Frequency (ABF)" Testing for all MPN Driver mutations.

Allan, (one of our MATES members), started me off to discover these responses, and hopefully soon, we here in Australia will also be able to obtain these results, which can often reveal some prognostic values concerning having an MPN.

To date, in Australia, one can obtain a Test for the JAK2 'Driver' mutation, which is available presently at the Royal Prince Alfred, (where I believe the Testing can be - Bulk-Billed or a $75.00 Rebate is available via Medicare.

Further, I have been reliably informed through the Peter MAC CAncer Foundation, that most Australian states at least have one hospital w/ a molecular cytogenics department, who should also be equipped to provide such technical requests.

However, if an MPN Patient in Australia has one of the other 'Driver' mutations, I.e. CALR or MPL

The ONLY way at present to gain the equivalent information for ABF is by requesting a 'Next Generation Sequence (NGS)' gene panel, which is somewhat more expensive at circa $500.00

It is this writer's understanding that the writing below alludes to seeking greater Equity for all MPN patients, irrespective of which 'Driver' mutation they may have.

As I may have mentioned previously, knowing what a patient's ABF is can be a valuable prognostic tool, and in many cases might also provide cause for the removal of some anxiety, where MPN patients are generally concerned. There are many instances where people who might have been diagnosed w/ either ET or PV become most anxious and wondering what longevity they might now have. However, if there medical teams can show them that their particular MPN is mainly indolent then perhaps they might be able to rest a tad more easily, in my view...

Please everyone, do encourage your medical teams here in Australia, to add to the comments section, when it soon becomes available for the 'Expansion of Genetic Testing for MPNs'

Thank you, stay safe & well...

Steven

mpn-mate.com/forum/viewtopi...

[ConniesDad]

Hi Steve

I have PMF CALR positive with ASXL1

At diagnosis I had the driver mutation tests and the NGS panel tests.

My haematologist suggested I have Allele Burden test but that this was not available on the NHS and I would need to approach a private clinic for this test. Obviously at my own cost.

I posted here to seek advice from others and was advised that the ABF test was irrelevant as I had CALR and not JAK2 and the ABF checks JAK allele burden. Needless to say as a frugal Yorkshireman I opted not to have the test.

Now I am wondering whether that decision was wrong and will discuss it again with my haematologist at the next phone consultation.

Confused!!

[socrates_8 in reply to ConniesDad]

Hey there ConniesDad...

Yes, quite often this stuff can easily become confused in the jargon of unfamiliar terminologies etc...

As I have tried to outline in my Post, here in Australia, these tests are rarely performed simply because previously they were not covered by our equivalent of your NHS, (Medicare), and as such, rarely heard of indeed.

Nevertheless, and just for your further information, I am also Post ET / MF, w/ CALR+ Type2, w/ ASXL1+... So we do have a few things in common my northern friend...

I learned through my enquiries here, and was assured, that my CALR & my ASXL1 (Allele Burden Frequency - ABF Tests), were recorded when I had my I had my NGS undertaken in 2018.

Today, I contacted the Lab, (& clinical pathologist), and they simply provided me w/ the ABFs.

Hence, I am assuming, that you should be able to request the same from the Lab, where your NGS tests were conducted too... (?)

NB** Remember, that the JAK2 ABFs can be arranged w/out an NGS being required, however, if one's 'Driver Mutations' are either CALR or MPL, then the NGS is presently the only way to obtain those percentages etc.

Hopefully, into the 'not-to-distant-future' our NGS tests will cost no more than the JAK2 tests do, (hopefully...

NB* My further understanding is that higher CALR 'ABFs' are reasonably commonplace, as the mutation does not interact as strongly as a JAK2 mutation, which are usually a tad lower than the CALR values...

My ABFs: CALR =25% : ASXL1 = 20%

Hope this all helps a tad buddy...

Best wishes...

Steve

[Windy51 in reply to socrates_8]

What is this test for

[socrates_8 in reply to Windy51]

Hey there Windy...

My name is Steve from Sydney...

These Tests "Allele Burden Frequency" (ABF), measure the amount of the 'Driver Mutation' that might be present in the blood of anyone who has one of the MPNs, (ET, PV or MF) etc.

The 'Driver Mutations' are: JAK2, CALR & MPL

However, some people are 'Triple Negative' because they are unable to detect any of those Three (3) mutations, in some people...

In other parts of the world, (other than Australia), those ABF tests are more common, and I/we are hoping that we will now see them conducted more regularly here 'Down Under' in Oz too...

mpn-mate.com/forum/viewtopi...

Hope this helps...

Best wishes

Steve

[Titatagg in reply to ConniesDad]

Just FYI I had 2x allele burden tests both on NHS .

[ConniesDad in reply to Titatagg]

That’s interesting. Which area are you in the uk?

[Kdavie12]

Thank you Steve 😊

[MPort]

Hi Steven, thank you for explaining this so clearly. It has been hidden for a long time but has now filtered down to us via the many excellent Seminars we could watch this year. I have a Jak2 allele burden test arranged for Tuesday in London. I have had very good info on this site from Manouch and Mary. I have PV since 2005 so I am very keen to find out the results. When I get these I will follow up the panel tests you mention.

I hope your results have helped you.

Best Mairead

[socrates_8 in reply to MPort]

Hey Mairead...

Just remember that the NGS, is really mainly to learn if other High Molecular Risk (HMR) mutations are present, and that the JAK2 ABF test can be conducted independently, and for a lot less, (as I understand it...)

Best wishes

Steve

[pontygirl]

Hi Steve,

I must get some answers for my ABF & the rest of the Alphabet Soup of questions..

I am , ET -JAK2- MF- PV- AXSL1, just started Ruxolitinib two (2) weeks ago...

1 Gram of HU & 20 mgs of Ruxolitinib Daily...

With the intention of getting off HU as soon as possible...

My fight for hopefully a better QOL became my singular battle of late..

Now I see there are indeed, many more questions to be asked, and hopefully answered....

I was diagnosed with this little package back in March 2018 ..

ET, JAK2 at first, then MF in June after BMB..

August brought the AXSL1 Mutation, 2018 was a productive year so to speak..

November 2019, told I also have PV, with the routine of Venesection.

My Blood doesn’t know if it’s Coming or Going Scenario....

2020 dawned and so on so forth for All of Us..

My battle to have Ruxolitinib was conducted Remotely...

My local Haematologist is very good, clearly did his best for me at the MDT meeting which is held to discuss the merit of me receiving Ruxolitinib...

Now for the Alphabet Soup Battle, to obtain different answers to different Questions, Yikes 😬

However a tiny voice in my head is cautioning, “ do you need to know the answers to these questions “ ?..

“ It’s up to you it’s saying, have we not got enough going on, in this head of ours ? “

That is the Question for Me personally, Yes I believe I would like to know the Answer to this Question !

Thus thank you Steven for this Light Bulb Moment..

As Always You are a Veritable Font of Knowledge..

I will of course drop by Mates and voice my thoughts on this subject, looking forward to the next

Catch Up on Mates....

Hopefully you and yours are all Well and Staying Safe...

All the Best

Maria 😘

[socrates_8 in reply to pontygirl]

Evening from a very sunny & warm Sydney...

Maria, in your case, (& as you have already had an NGS Panel done), finding your ABF should not be so difficult, and indeed, should be part of the 'Record' of your NGS, (as I understand it...)

Knowing what are ABFs are, might be useful, as while it might suggest a 'Progression' if the ABFs were to rise, it might also suggest an ongoing Chronic condition prevails, or indeed an ABF level that has diminished... (?)

However, it is a question for each of us I guess...

Best wishes, stay safe & well...

Steve

[MAP44]

Canada does not do these tests. I asked they said they are unneeded. 😕

[socrates_8 in reply to MAP44]

Hey Map44...

I guess it is just about how much information is enough, for each MPN individual, as some like more & others are content w/ less...

Best wishes, stay safe & well...

Steve

[MAP44]

I would love more information, I will keep asking. Thanks Steve 🍻