Secondary AML with TP53 Mutation

Recent diagnosis
1

We have been informed that my 75 year old father’s blood condition (Polycythaemia vera ('PV')) has likely developed into secondary acute myeloid leukaemia with TP53 mutation (multi-hit). We are still awaiting further biopsy results to confirm.

We have asked his current team to refer to King’s Hospital, for a second opinion.

My father is 75 years old and usually relatively healthy. He has been living with polycythaemia vera (Polycythaemia vera ('PV')) for the past 11 years following a stroke. He has been suffering with low haemoglobin levels recently as his condition is supposedly accelerating, so he has had to have blood transfusions and he developed a chest infection that turned into pneumonia but is recovering extremely well. Otherwise he has lived very healthily and is an extremely active for a 75 year old, going to the gym multiple times per week, however, has not been able to do this more recently.

As mentioned above, we are currently awaiting further biopsy results, which are expected in the next few days.

We understand that his blast count has started to increase, and from what I have read, if the levels do reach up to 20% this may indicate transformation to Acute myeloid leukaemia ('AML'). An additional concern is the presence of a TP53 mutation (multi-hit), which I understand does not respond well to standard treatments.

I would appreciate any advice from anyone who themselves or a family member has had a diagnosis of secondary acute myeloid leaukimia with TP53 mutation, specifically:

-How you, your family member/friend managed with this process?

-Did you, your family member/friend obtain treatment, no treatment or allogenic stem cell transplant?

-Did you, your family member/friend reach out to a specialist centre for a second opinion on diagnosis and treatment options?

-How did you, your family member/friend manage their condition and what support did they receive?

We want to provide the best options we can to our father, whether that is via treatment or just palliative care only.

We are really concerned how quickly this can progress and we are completely devastated.

1 Like
2

Hello @Nataliex and welcome to the forum.

I’m sorry to hear that your father’s condition appears to be progressing in a direction you hoped it wouldn’t.

There’s a number of people living with Polycythaemia vera ('PV') on the forum.

My primary diagnosis was Myelofibrosis another Myeloproliferative neoplasms ('MPN') which progressed to Acute myeloid leukaemia ('AML').

Once blasts were over 20% I was moved from low intensity chemotherapy to high intensity chemotherapy.

Unfortunately didn’t produce the result that was hoped for so I was put on maintenance chemotherapy

Surprisingly and against all the odds I got to a point where a Bone Marrow Transplant was offered and an anonymous donor found.

I had my transplant just over a year ago

I and my wife just decided to take each day as it comes, accepting there would be ups and downs

We both had total confidence in our Haematology team so didn’t seek a second opinion.

That said as there’s only one centre for allogenic transplant in Scotland they were very much taking the lead in that part of my journey.

Support wise Maggies was brilliant. Very much a place to go to to get away from the hospital. They will provide as much or as little help your father and your family wants.

It’s also worthwhile speaking with a Macmillan Benefits Adviser as they can help make sure your father has all the financial support that he qualifies for.

There are some benefits such as PIP and Adult Disability Payment(Scotland only) that aren’t means tested.

Like your father I was fit and healthy before diagnosis and that helped for sure.

I was 59 when diagnosed and 60 at time of my transplant.

You are all bound to feel devastated as a family. Its completely normal.

I know personally that my mindset played a huge part in getting me to where I am now

Hopefully this reply helps and I’m sure others will share thoughts.

You might also want to reach out to the @BloodCancerUK-SupportTeam and the @BloodCancerUK_Nurses

2 Likes
3

Hello @Nataliex

Thank you for taking time to send your post into the forum

My heart goes out to your and your family

I can see @DuncanB has left you a detailed and very helpful response and i echo his words

Take good care

Kind regards

Mike

2 Likes
4

Hello there @Nataliex, welcome to the forum at this concerning time. It’s really so caring of you to be here to support your dad, what a lucky man to have such a caring daughter. I hope you’re bearing up okay.

Like your dad I’ve been living with Polycythaemia vera ('PV') so have an idea of the kind of treatments and symptoms he’s been having. For his Polycythaemia vera ('PV') to progress to Acute myeloid leukaemia ('AML') in his lifetime is not unheard of, but is still pretty rare from my understanding. I try to learn what I can as I have that rare chance of mine transforming too, so thank you for sharing what you have as it’s already helping forum members.

I’ll share the great Blood Cancer UK information about Acute myeloid leukaemia ('AML') here for you, which has many links to further information: Acute myeloid leukaemia (AML) - what it is, symptoms, tests, treatment, prognosis and support. | Blood Cancer UK

You’ll likely find answers to your queries by looking around the forum further using the search box at the top or Related Topics below. As your dad was diagnosed with a rarer gene mutation there will be fewer forum members who have shared about that than, say, JAK2 gene mutations, but do reach out to others using an @ before their username when you find posts that resonate with your experiences and they should get a notification.

Like dear @DuncanB shows from his own lived experiences, there are options for treatment that don’t necessarily lead to palliative care, so do please hold out hope that your dad has options too. His being healthy and active is a great big positive like we blood cancer survivors are often told by our specialists.

Might it help to speak with the lovely Blood Cancer UK nurses about all this? They really know their stuff and can point you and your dad towards medical information that we forum members can’t really advise on. Their free number is 0808 2080 888.

Hope that helps a little @Nataliex, thinking of you at this difficult time. Do please keep us posted about how you and your dad get on.

5

Hi @Nataliex,

I’m so sorry about what’s happening with your dad, and I’m glad you found the forum. What a frightening time for your whole family, and it’s clear how much care and thought you’re putting into making sure he has every option in front of him.

@Duncan and @DuncanB have both shared valuable perspectives. If you haven’t already, it’s also worth scrolling down to the ‘Related Topics’ feature below this post - there are two threads there specifically about Acute myeloid leukaemia with TP53 that might speak directly to some of your questions, and where you can connect with the users (Aml tp53 and AML, TP53 and chromosome defects) and there may be others that you’d find useful, too.

We also have some resources specifically for people supporting a loved one, including some thoughts on looking after yourself.

I also just wanted to reiterate that our Support Line is there for family members and carers as much as it is for people with a diagnosis themselves. If you need someone to talk through what you’re all facing, or want help thinking about questions to raise at upcoming appointments, please do reach out on 0808 2080 888 (option 1) or support@bloodcancer.org.uk.

Please do keep us posted about the biopsy results and how your dad is getting on.

Take care,

Ceri - Blood Cancer UK Support Services

1 Like