Anyone experienced Bone Marrow Transplant with TP53 mutation?

Hi
I’ve been recently diagnosed with high risk MDS. I have monosomes with 15,18,20,22. Missing chromosomes 5,7,17 and TP53 at 87%.

It was diagnosed when I went in for belly cramping, fever, chills.

I do have incredible care team. But there are so many factors, it’s frightening. Thoughts?

@bromlj1 - I’m deeply sorry you’re navigating a high-risk MDS diagnosis—it’s a lot to take in. Your chromosomal abnormalities (monosomies 15, 18, 20, 22, and missing 5, 7, 17) and 87% TP53 mutation indicate a complex situation, often linked to a higher risk of progressing to AML or complications like infections. What are you most concerned about at this time? Your symptoms—belly cramping, fever, chills—likely stem from low blood counts or spleen enlargement, common in MDS. Having a stellar care team is a huge asset, and here are some thoughts to help you manage the fear and complexity.
High-risk MDS with TP53 mutations and complex karyotype can feel overwhelming due to its tougher prognosis, but outcomes vary. Your team is likely using tools like IPSS-R or IPSS-M to guide treatment. Options may include hypomethylating agents (azacitidine, decitabine), though TP53 mutations can reduce their effectiveness, or clinical trials targeting TP53 (e.g., magrolimab or venetoclax combos). Has your team reviewed these topics with you? Stem cell transplant might be considered if you’re eligible—ask about this. Ensure your symptoms are addressed (e.g., imaging for spleen issues, infection checks). Emotionally, the uncertainty is heavy; connecting with the MDS Foundation or a counselor can help. Pace yourself with information—focus on one step at a time, like “What’s my next treatment?” You’re not alone, and research is advancing rapidly. Lean on your team, and let me know if you want specifics on trials, support, or just a space to process

What a terrific post of info by roywalton.
I cannot believe the journey i have been on since my transplant April 9th of 2024. In October of 2023 I had never heard of a 5q deletion or a TP53 mutation. I had been a relatively healthy 60-year-old with a shingles occurrence 4 years previously and a mix of colds, basil cell carcinomas and that sort of thing. I did not read medical terms. I had started donating blood in my mid-twenties while going to college. Talked into it by my older brother. In my mid-thirties, I switched to platelets. Twenty-five years later breast cancer. Chemo, different meds and the Lynparza pill.
On my 2nd visit to the City of Hope I was given an option by a person in the department of the genetics team to have the genetics test. My blood had been tested by the Red Cross for over 30 years. Why not I thought. More details would be helpful.
Then the interesting word of MDS was revealed. Caused by? Who knows exactly. Another genetic mutation, the chemo I received, a side effect of Lynparza pill I took? Blasts? 5q deletion? TP53? Before that the Brca2? What in the world. I read about other people having Brca2, but little else about mutations or blood disorders did I read. Besides that, it never occurred to me I would have anything like these mutations or something such as MDS.
To Julie.
Having a medical team which includes the Doctor, test departments and the nursing team is where you will find answers. This is what the hematology units do every single day. Evaluate where you are at. Study all that information you provided and come out with a treatment plan. Many tests will happen if they have not already.
This reminded me of my 25 plus days in the hospital last year in April. After my transplant with my new cells, I honestly wondered why my precious blood could be drawn 4 times per day every day. What would be left? I voiced this to a nurse one day and she let me know the quantity of blood vs what is in my body. I would be ok. My body will handle it.
Allow yourself to fill the fear but know your caring team is there to care for you. I found Lori and so many others on Mayo connect who have walked this journey and helped me see what I would walk through. I looked through that window of "What is going to happen" to find people who knew.
Keep us posted.

Just wanted to add...my oldest friend of 66 years was diagnosed with MDS 25 years ago....and it never progressed!

@katgob - you're in great hands at COH! Myelodysplastic syndromes (MDS) likely stem from a mix of factors, and your case—possibly tied to BRCA2, TP53, 5q deletion, chemotherapy, or Lynparza (olaparib)—is understandably confusing. MDS involves faulty bone marrow producing abnormal cells (blasts). Your BRCA2 mutation, known for breast/ovarian cancer, impairs DNA repair, potentially making bone marrow cells vulnerable to damage from chemotherapy (e.g., alkylating agents), which is a common cause of therapy-related MDS (t-MDS), often with 5q deletion or TP53 mutations. These occur in 15% and 5-40% of MDS cases, respectively, with TP53 linked to worse outcomes and higher blasts. Lynparza, a PARP inhibitor, rarely (< 2%) triggers MDS, especially in BRCA2 carriers post-chemotherapy, but it’s less likely the sole cause. Blasts reflect disease severity, not its cause, with >5% indicating higher-risk MDS. De novo MDS, driven by spontaneous mutations (e.g., SF3B1, TET2), is also possible, especially with age. Your BRCA2 knowledge likely focused on solid tumors, as its MDS link is less discussed but recognized in t-MDS (16-21% of cases). The shock of these mutations and MDS is valid—it’s often found late via bone marrow tests. Ask your doctor for cytogenetic/molecular results to clarify your subtype (e.g., del(5q), TP53-mutated) and guide treatment (e.g., lenalidomide for del(5q), hypomethylating agents for TP53). Clinical trials or support groups (e.g., MDS Foundation) may help. Share test details for deeper insights. Do you feel more in control as you learn more about genes and genetic testing?

roywalton. I had my transplant 1 year ago April 9th. Your knowledge and what you share is something i shall reread.
I knew next to nothing, and you just filled my inbox with so much more info! This is exactly why i love Mayo Clinic Connect!!!!

Roywalton,
Thank you for your note.

Yes, my care team is looking for a match. Good to know the MDS could cause the abdominal pain. They have eliminated at other potential issues.

The TP-53 is perplexing. I agree, best to just focus on next step…just finished second round of Vidaza. Time to build energy!

Thank you again