Anyone experienced Bone Marrow Transplant with TP53 mutation?

Posted by Steve1958 @alohasteve, Aug 13, 2023

After 10 healthy years, living with Essential Thrombocythemia w/JAK2 mutation and taking Hydroxyurea, my blood disease has transitioned into Myelofibrosis. I'm now taking Jakafi for my enlarged spleen with no known side effects, so far. The kicker is the diagnosis of TP53 gene mutations added to my JAK2 mutation, which has also copied itself. I am scheduled for a Bone Marrow/Stem Cell Transplant from a top hospital next month. I recently got a second opinion from another top institution. Both agree that the transplant is necessary, but they differ on their recommended conditioning regimen (chemo/radiation). One suggests a more aggressive chemotherapy, that includes Fludarabine & Melphalan, the other Fludarabine. Melphalan is known to be more toxic with more potential side effects. Both doctors told me that currently, there is no known treatment for the TP53 gene mutation. The TP53 gene mutation is a more aggressive mutation and is known to comeback, even after a transplant. I've done plenty of research and feel like I'm in good hands with my doctor. But, I'm interested to see if anyone else has experienced a similar situation with a TP53 gene mutation and any experience with Melphalan? Stem Cell Transplants? BTW...the crazy thing is, other than a little fatigue, I stay active, look & feel healthy (I'm 65). It is all very surreal, considering my diagnosis. Best to everyone dealing with these blood diseases. Carpe Diem!

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

Hi @alohasteve. Sorry to hear about your newest adventure in the world of blood cancers. I didn’t have your TP53 mutation but 3 others which made treating my AML difficult. I underwent an allogenic (donor cells) bone marrow transplant 4 years ago, also at the age of 65 and happy to report I’m in a durable remission and feeling as though nothing ever happened. So this is all doable…not a day at the beach but definitely worth the effort.

I’m happy to talk transplant with you. You’re wondering about the preconditioning. For my pre-conditioning I had 5 days of Fludarabine, concurrent with Melphalan the last 2 days. Because I went into the transplant ‘clean’ with a chemo induced remission my doctor opted for no radiation. I had a lumbar puncture to make sure my spinal fluid was free from cancer cells and bone marrow biopsies came back clean 2 months in a row. So he felt comfortable forgoing the radiation.

We all have cancerous cells in our body. Every day our immune system nabs them before anything happens. When we have a mutation, it can trick the immune system into no longer recognizing the cancerous cells so they’re allowed to proliferate. There are some mutated cells which can morph, elude chemo and lie dormant, hiding out for a while. Months after chemo or BMT, they can resurface. The goal of our newly implanted immune system is to recognize these invaders as diseased and do what our old systems could no longer do…exterminate them!
So that last push with Malphalan and/or radiation helps to eliminate any potential interlopers to reduce a comeback. It’s no guarantee but it’s a little more of belts and suspenders.
Side effects whether you have just the fludarabine or combination of both will be similar. Extreme fatigue, nausea, hair loss, gut/intestinal issues, mouth sores. But these pass. The first 2-3 weeks are generally the worst when blood numbers drop to record lows during the nadir period or neutropenic state. Most patients feel physically and mentally exhausted until engraftment of the new cells. Then, as the WBC starts increasing you’ll being to feel much better with daily progression of strength and stamina.

Honestly, any of our chemo meds or radiation can possibly cause secondary issues years down the road. But the gift is they buy us precious time and an opportunity for a second chance at life. If I hadn’t had my transplant it is a certainty that I would no longer be here.

So as long as you’re comfortable with your transplant team, you’ll learn to trust them and your doctor to help guide you through this process. Having a larger top hospital behind you will help insure that you’ll be in the best experienced hands. There are a number of us in the forum who have undergone the process of a Allogenic transplant and are happy to use our experiences to help you through yours.
Do you have any specific questions? Has a donor been found for you yet?

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@loribmt

Hi @alohasteve. Sorry to hear about your newest adventure in the world of blood cancers. I didn’t have your TP53 mutation but 3 others which made treating my AML difficult. I underwent an allogenic (donor cells) bone marrow transplant 4 years ago, also at the age of 65 and happy to report I’m in a durable remission and feeling as though nothing ever happened. So this is all doable…not a day at the beach but definitely worth the effort.

I’m happy to talk transplant with you. You’re wondering about the preconditioning. For my pre-conditioning I had 5 days of Fludarabine, concurrent with Melphalan the last 2 days. Because I went into the transplant ‘clean’ with a chemo induced remission my doctor opted for no radiation. I had a lumbar puncture to make sure my spinal fluid was free from cancer cells and bone marrow biopsies came back clean 2 months in a row. So he felt comfortable forgoing the radiation.

We all have cancerous cells in our body. Every day our immune system nabs them before anything happens. When we have a mutation, it can trick the immune system into no longer recognizing the cancerous cells so they’re allowed to proliferate. There are some mutated cells which can morph, elude chemo and lie dormant, hiding out for a while. Months after chemo or BMT, they can resurface. The goal of our newly implanted immune system is to recognize these invaders as diseased and do what our old systems could no longer do…exterminate them!
So that last push with Malphalan and/or radiation helps to eliminate any potential interlopers to reduce a comeback. It’s no guarantee but it’s a little more of belts and suspenders.
Side effects whether you have just the fludarabine or combination of both will be similar. Extreme fatigue, nausea, hair loss, gut/intestinal issues, mouth sores. But these pass. The first 2-3 weeks are generally the worst when blood numbers drop to record lows during the nadir period or neutropenic state. Most patients feel physically and mentally exhausted until engraftment of the new cells. Then, as the WBC starts increasing you’ll being to feel much better with daily progression of strength and stamina.

Honestly, any of our chemo meds or radiation can possibly cause secondary issues years down the road. But the gift is they buy us precious time and an opportunity for a second chance at life. If I hadn’t had my transplant it is a certainty that I would no longer be here.

So as long as you’re comfortable with your transplant team, you’ll learn to trust them and your doctor to help guide you through this process. Having a larger top hospital behind you will help insure that you’ll be in the best experienced hands. There are a number of us in the forum who have undergone the process of a Allogenic transplant and are happy to use our experiences to help you through yours.
Do you have any specific questions? Has a donor been found for you yet?

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Lori, Thank you so much for taking the time to reply. I have been looking at Mayo Clinic Connect for a couple months, but had never posted anything, until this week. I've seen a number of your posts on BMT/SCT. Your words are encouraging and helpful to many, including me.

The great news is that I have a designated donor with a 12/12 match. Apparently, the donor had a scheduling conflict, so my SCT has been pushed out another month. My disease hasn't progressed to AML, so the doctor isn't concerned with the additional month.

Thanks for the offer to reach out, should I have additional questions. I just may take you up on that. Carpe Diem! Steve

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@alohasteve

Lori, Thank you so much for taking the time to reply. I have been looking at Mayo Clinic Connect for a couple months, but had never posted anything, until this week. I've seen a number of your posts on BMT/SCT. Your words are encouraging and helpful to many, including me.

The great news is that I have a designated donor with a 12/12 match. Apparently, the donor had a scheduling conflict, so my SCT has been pushed out another month. My disease hasn't progressed to AML, so the doctor isn't concerned with the additional month.

Thanks for the offer to reach out, should I have additional questions. I just may take you up on that. Carpe Diem! Steve

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Steve, Congratulations on such a great donor match! That one is definitely worth waiting for. I had to wait an extra month too and it was not an issue to delay.
This gives you time to prepare. Do you have to relocate for your stay? My husband and I had to set up housekeeping in Rochester for 4 months. It’s about 4.5 hours from our home. Initially it all felt daunting, especially while recovering from all the months of chemo from the AML. But I made lists and we got everything set. It was quite a great adventure for an old married couple. 😅
Let me know what I can help with. We have some great discussions here about what to pack for transplant, lodging ideas, etc.
Keep me posted…and I truly Carpe Diem! Never waste a moment.

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@loribmt

Steve, Congratulations on such a great donor match! That one is definitely worth waiting for. I had to wait an extra month too and it was not an issue to delay.
This gives you time to prepare. Do you have to relocate for your stay? My husband and I had to set up housekeeping in Rochester for 4 months. It’s about 4.5 hours from our home. Initially it all felt daunting, especially while recovering from all the months of chemo from the AML. But I made lists and we got everything set. It was quite a great adventure for an old married couple. 😅
Let me know what I can help with. We have some great discussions here about what to pack for transplant, lodging ideas, etc.
Keep me posted…and I truly Carpe Diem! Never waste a moment.

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Fortunately, my wife and I live relatively close to the transplant hospital in Los Angeles. But, commuting to and from is never fun in LA traffic. And you are correct, the extra month takes a little pressure off the preparation for my hospital stay. I also have my list that I'm diligently working on. But certainly, any ideas are welcome. The good news is that there are so many resources, such as the transplant center and outside organizations, like...Be the Match. But the best ideas come from other transplant recipients, like yourself. Please LMK if there are other posts or resources, I might want to check out. Mahalo! Steve

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@alohasteve

Fortunately, my wife and I live relatively close to the transplant hospital in Los Angeles. But, commuting to and from is never fun in LA traffic. And you are correct, the extra month takes a little pressure off the preparation for my hospital stay. I also have my list that I'm diligently working on. But certainly, any ideas are welcome. The good news is that there are so many resources, such as the transplant center and outside organizations, like...Be the Match. But the best ideas come from other transplant recipients, like yourself. Please LMK if there are other posts or resources, I might want to check out. Mahalo! Steve

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Hi Steve, Here are a couple of links to conversations about prepping for transplants and after care.

The first was in a list I compiled for transplantation while I was at Mayo-Rochester for 4 months. Other members have added their ‘necessities’ to the lists in subsequent conversations.
https://connect.mayoclinic.org/comment/703859/

https://connect.mayoclinic.org/discussion/my-bone-marrow-transplant-bmt-story-will-you-share-yours/

This is a really comprehensive aftercare guide from Memorial Sloan Kettering. I had a very similar list from Mayo but this was already online so it’s my go-to guideline.
You’ll no doubt have your own educational classes and information for life going forward.

https://www.mskcc.org/pdf/cancer-care/patient-education/leaving-hospital-after-your-allogeneic-transplant

There are other friends here in the forum who have also had allogenic stem cell transplants a few of these are: @alive, who just celebrated her 7th rebirthday, @kt2013 who had her transplant 10 years ago, I’m at 4 years and @edb1123 who is coming up on her 3rd anniversary.
Don’t hesitate to ask us questions. We’re here to offer support and to help you (your caregiver) navigate this journey. It helps to talk with others who have walked the walk.

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Awesome! Thanks so much for all the additional resources. I’ve got more homework to do:)

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Hi, Steve. Congratulations on finding such a great match! I was diagnosed with acute monocytic leukemia 10 years ago. One of my sisters was a super good match and graciously donated 7 million peripheral stem cells to me. Her immune system engrafted seamlessly and I remain in remission.
I celebrate every day with gratitude for her giving heart. I won’t tell you it is an easy journey, but there are gifts at every crossroad you will come to. Gather those in hand and keep them close, they will bring you comfort on the rough days. Looking back, I remember the people who stepped up to support me, these are the angels among us. And I try to pay it forward whenever an opportunity presents itself. I will keep you in thought and prayer and invite you to keep in touch with us!

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Thank you for your kind thoughts:)

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@kt2013

Hi, Steve. Congratulations on finding such a great match! I was diagnosed with acute monocytic leukemia 10 years ago. One of my sisters was a super good match and graciously donated 7 million peripheral stem cells to me. Her immune system engrafted seamlessly and I remain in remission.
I celebrate every day with gratitude for her giving heart. I won’t tell you it is an easy journey, but there are gifts at every crossroad you will come to. Gather those in hand and keep them close, they will bring you comfort on the rough days. Looking back, I remember the people who stepped up to support me, these are the angels among us. And I try to pay it forward whenever an opportunity presents itself. I will keep you in thought and prayer and invite you to keep in touch with us!

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@kt2013, great pic. I hope you'll add it to your profile. Learn how to update your profile in the Help Center https://connect.mayoclinic.org/help-center/

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Any new news? I have the TP53 at 2%. I am thinking the DR. said they have a couple possible matches. Two months on the transplant list. I will be at City of Hope in Duarte. Today I am in Fredonia NY visiting my sister. If i lived here, I would be at Mayo. He said I will have another blood test in 2 months. See where my numbers are. Platelets at 130.....white cells 2.9 but red are good. I donated platelets till 2021. 25 years. I had high counts. These numbers are why I asked my MO office to refer me to a hematologist.

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