Anyone else have Clonal Cytopenia of Undetermined Significance (CCUS)?

Not so far, it's been in the normal range since diagnosis. I feel they are preparing me for a change because they mention it more in my appointments. But so far so good. My platelets are at about 30. I get another round of blood work next week.

It’s reassuring for you that your numbers haven’t been changing very much since diagnosis. Many blood conditions tend to develop slowly over time so it sounds like you’re having regular blood work. That will allow your doctors to spot and follow any trends in the results.
I know, having a chronic diagnosis with a potential for changes can feel like you’re waiting for the other shoe to drop. But try to always focus forward and enjoy your life, putting the diagnosis on the back burner. If something changes, then your doctor will talk about treatment options.
How often do you have your bloodwork done?

I'm still figuring out how to use these forums! My doctor has had me in wait-and-see mode since 2017, but I did have changes in 2022. I only get blood work done when I feel the need (lots of bruising); I have a standing order for it. Until this year, it was maybe every 3 or 4 months. This year, it's more often, but not by much. I keep wondering if I should get it done more often? Is enough being done? I don't know much about my mutations and don't even know what questions I should be asking. I'm a natural worrier, and now, reading how much other people know about their conditions, I feel very left in the dark.

Good morning, @pixiesusan. I think we’re all pretty much natural worriers…especially when it comes to medical issues. And blood conditions, well, they can be challenging just because our blood, bone marrow and immune systems are so incredibly complex. Some blood conditions can also take years to progress (if at all) which can add to your stress and puts you in a holding pattern.

You’ve been diagnosed with a blood disorder called Clonal Cytopenia of undetermined significance. A mouthful for a condition where your body isn’t making enough of a certain blood cell and there is no apparent cause. So there’s little that can be done at this time for treatment except to keep an eye out for any changes in blood work, symptoms or upward/downward trends in blood numbers.

You mentioned that you’re having more frequent blood work this year. What are the results showing? Are there upward/downward trends in those numbers? Doctors look for patterns (trends) and that can help them determine if a condition is potentially progressing.

With your diagnosis, there were most likely some NGS (next generation sequencing) genetic tests run. This checks for any potential acquired mutations in cells which could be causing the CCUS. What did those tests show?

You’re being seen annually at Dana Farber. They are instrumental in developing a tool to estimate the risk of MDS or AML for patients with CCUS or CHIP. Do you know if you’ve had that risk test?

Found this article for you: https://blog.dana-farber.org/insight/2019/04/what-is-clonal-cytopenia-of-undetermined-significance-ccus/

Are you being seen locally with a hematologist oncologist or just annually at Dana F? What does your local doctor say about the changes in your blood numbers?

Now that you’re in the forum, and reading about what other members with CCUS know of their conditions, that will also help you with what questions to ask…anything that you feel in the dark about and want clarified.
Maybe it’s time to sit down again with your doctor to get some straight answers. Write those thoughts down, make a list of questions then take those with you to your doctor.

How often are you actually seen by your local hematologist oncologist or do you just go in for blood work?

I don't have a local hematologist-oncologist. I don't know if they have estimated the risk for MDS or AML yet. I'll ask them. She said my risk was low but that it could change. My doctor at Dana is responsive by email, but I think I should see her again before my annual appointment next year. I feel like there is a lot I don't know and should be asking, but again, I'm so in the dark that I'm unsure what to ask. I'm going to do more reading about it. My blood work so far is stable, other than my platelets. Those range anywhere from 30 to 55, but lately, they have been on the low end of that range. It's hard to find more people with this CCUS issue; there are some here in this forum, but they don't seem to be active. 🙁

Good morning, @pixiesusan. I feel it would give you peace of mind to meet with your Dana doctor sooner rather than waiting for next year’s appointment, even if it’s just a tele-visit. It doesn’t appear that you were given much information and feel pretty at sea for not knowing what’s going on or even what to anticipate with your CCUS. That’s not fair to you and really increases your stress level. With your changing blood results I think you’d like a little more reassurance.

I did tag @audreyl23 @j68eis @mlarneson and @thipley in a previous response. If you’d like to ask any of them questions feel free to tag them with their @name They should get notifications and can respond to you. I hope you find some answers because it can feel really lonely having an unusual diagnosis. Hopefully you get some feedback from our members who also have CCUS.

In the meantime, maybe drop your doctor a note in the patient portal or call their office to see about setting up a tele-visit or appointment. What do you think?

Hi @pixiesusan

My name is Audrey L. I am sorry I have not seen your messages until now. I have had CCUS for over 12 years now. Progression for me has been slow. My Platelets began in the 120-140 range many years ago. My WBCs were in the 3500-4000 range and my ANC from 900-1200. Although there were ups and downs, they were stable for at least 8 years. My bone marrow biopsies did not show evidence of MDS. I was therefore put on a wait, watch& see schedule of care. My labs were repeated every 6 months. My Platelets dropped to the 90-95K range three years ago. My labs were then repeated every three months. They were stable in that range until about six months ago. I had NGS panel in 2018. This showed 2 mutations with very high VAF. (40% range). My mutations are DNMT3A and TET2. A repeat bone marrow biopsy three years ago and again a few months ago, have failed to show progression to MDS. However, repeat NGS showed that I have acquired a third mutation. (CUX-1). The VAF is much lower on this one, but it likely does mean there is some evidence towards progression. My platelets have decreased to the 75-79 K range over the past six months. (We have checked them monthly for 4 months.) My hematologist indicated that should my platelets reach 50K, I would be referred to a Stem Cell Transplant doctor for a consultation.

Platelet counts in the 30K range are quite low. At the very least, you do need to see your hematologist. I would assume she/he will want to check a new bone marrow biopsy, (possibly also cytogenetics, flow cytometry and rapid heme panel) in the near future to help you decide your next steps.

CCUS can be a very confusing and lonely diagnosis. It is like you are always waiting for the next shoe to drop. The fear of the unknown is real. Also, not many people.. including other providers, (like PCPs) really even understand what it is. This means, people with CCUS often have very little support.

I have read a lot over the years about this. I want you to feel reassured to know that Stem Cell Transplants are thought to be CURATIVE. In the meantime, there are other treatments available, if needed… until a transplant becomes a viable option. I have seen several doctors for my CCUS (due to change in my health insurance, retired hematologist, etc..) I also had a second opinion. All of my doctors have been at top cancer institutions. All of them have said the wait, watch and see approach is absolutely the way to go. The treatments can cause patients to become sicker sooner than they would have if they had just let it run its course. It is important you have frequent blood testing and follow ups. At least every three months is standard of care for this.
Once again, I do think at 30K, your platelets likely
need some type of treatment. This will likely be a discussion between you and your hematologist. I hope I may have answered some questions for you. I wish you all the best. Please reach out to me for any further questions, or if you just need a friend to talk this out with. It is important we are there for one another.

Hi, first, I was going to try to respond just to Audrey, but try as I might, I can't make that happen.

I was diagnosed with low platelets in 2017, and going back through my medical records, I had them since at least 2014, and no one thought to mention them. Since 2017, my platelets have been in the 30 - 50 range, but lately, they have been closer to the mid-30s. I've had no treatment, and my doctor is hesitant to treat my low platelets now because, other than exhaustion and bruising easily, I didn't have any other symptoms until recently. She felt that most of the treatments could have side effects worse than my general health now.

None of my other blood work is abnormal. Yet.

However, over the past few months, I've had bone pain. My doctor says she isn't sure why this is; I don't have MDS or anything else yet. That answer annoys me because it seems worse at night and wakes me up. Because of my platelets, I can only take Tylenol, and that barely helps at all. So I'm left with very painful bones and now exhaustion like I've never had before in my life.

So we have been in watch-and-wait mode since 2017, and I guess I didn't really take any of this very seriously because no doctor was saying, "Oh wow." So I thought I was ok. At my most recent appointment in May 2024, my doctor pushed harder about what was happening to me. I think she realized I was in la-la land and wanted me to understand that this was a lot more serious than I thought. Since May, I have not had a single day that I have not thought about this - a lot. Between the worry, exhaustion, and bone pain, my quality of life is awful.

I don't have any of the information you and many others seem to possess: mutations, NGS, VAF (I don't even know what those mean). I don't know why I don't. And since I was in la-la land for a while (mostly because nothing was changing with my health or blood, and I felt OK), maybe they think I'm not bright enough to take it all in. For the record, I consider myself fairly intelligent and a critical thinker. 😉

The only thing I do know is that my TP53 gene has some mutation, and the TP53 gene is responsible for fighting aggressive cancers. I feel doomed.

I feel my hematologist is good, but how would I really know that? She is on staff at Dana Farber Cancer Institute in Boston, specializes in leukemia, and teaches at Harvard. She sounds good on paper, and I like her. But I do feel left in the dark in some ways.

The lack of support is challenging. When they first found my low platelets, they thought I had Immune Thrombocytopenia, and I joined a support group on Facebook with 10,000 people from all over the world. That was great and always so supportive. However, it turns out that isn't what I have. It's CCUS, and other than this group with a few people in it here at Mayo Clinic, I can't find another group for it at all. My PC is clueless.

Thanks for listening.

Hi @pixiesusan. Here’s how to make sure you can respond directly to a member’s comment. ☺️
In this case, you wanted to respond to @audreyl23 and her lovely response to you.
Right under her reply is a little oval ‘button’ that says Reply. If you click there, it will open up a little blue box where you can type your reply. It will have the notification right on top to Audrey, in your reply, that she has a message. ☺️

Another way, if you see a comment or a member where you’d like to reply and make sure they get a notification, type in their @name as it was written in their comment. Always put the @ sign in front of the name. The official user name for all of us should include that @ sign..like mine is @loribmt

I’m so happy you joined Connect. I know you’re having a difficult time finding other people who have CCUS and it really can help to not feel so alone when there are others who share the same diagnosis. We all need a lifeline sometimes!
In no way should you admonish yourself for not understanding your diagnosis. You mentioned even your PC is clueless. That’s because this out of the scope of your primary doctor and the reason that having a leukemia specialist is an important part of your health team to monitor your CCUS.
Dana Farber is a top cancer institute and from what you’ve mentioned of your doctor there, I don’t think you need to have any misgivings about her credentials or expertise. But if you don’t feel as though you are being seeing frequently enough then you need to discuss that with your doctor.
You have legitimate questions and would like some clarification on the potential for your disease to progress. You’d like to know what to expect for treatment options if things do change. You’d like to better understand what caused this disease and how this is impacting your life.

With my leukemia diagnosis and subsequent bone marrow transplant, believe me, I had no clue! That was never on my radar! My husband and I asked a ton of questions and not one time, did any of my doctors balk at having to take time to explain the details of what was taking place. We had a little notebook with questions so we could go right down the list without wasting time. Armed with extensive knowledge I learned about my disease and the transplant, I went from being a bystander to an integral part of my own health team and now I help others.

So I absolutely understand you feel as though you’re sitting on the sidelines watching what’s ’happening to you’ when you want to be an integral part of your team! It’s ok to be that person! We have to be our own advocates for health.
For your peace of mind, I encourage you to check in with your doctor soon instead of waiting until next year’s appointment. What do you think? ☺️

Hello everyone,
At first, they thought I had MDS, but then another doctor said CCUS. My bone marrow showed only the DNMT3A mutation with an 11q deletion. I am receiving EPO injections when my hemoglobin is below ten, and it is checked monthly. I recently saw another hematologist who is an expert in these blood disorders and asked if I should have another bone marrow biopsy since my first and only was several years ago. She said that unless something dramatic or suddenly changes in my bloodwork or how I feel, she should keep doing what I am doing.
I am also studying epigenetics. I am trying to read Ben Lynch's Dirty Genes and Dawson Church's Genie in Your Genes.