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

Posted by j68eis @j68eis, Sep 24, 2023

Last bone marrow biopsy revealed a couple of gene mutations in the KM2TC And ASXL1

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@audreyl23

@sjjs Please understand I am not trying to give you medical advice.. only arm you with the info you may need to help you make informed decisions about your care.

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no worries, that’s exactly what I got from your message. Sharing is caring. I was told so take care, Suzanne.

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@pixiesusan

I've been on it for 6 weeks, but someone (not a doctor) told me that different people react in different ways, so we'll see what the new test results are this week.

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Hi @pixiesusan and @loribmt
Susan, I've been away but have been thinking of you. How are you doing?

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How nice of you to ask; thanks. Ups and downs would be the best way to describe how I feel. I'm still exhausted and have bone pain, although it seems a little better than it was. So, I guess I'm holding even. My thyroid is still off, so they upped my Rx on that, and I get retested in another six weeks. I hope everyone in this group is doing well!

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Glad to hear you're having some good days. 🙂 I hope you continue to feel better and get your much needed answers soon. Don't forget to advocate for yourself. Best of luck to you!!

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@pixiesusan

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.

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PixieSusan, I like you have low platelets. After bone marrow biopsy I was diagnosed with low risk MDS. I am on watch and wait as well . I see the Doctor mostly every 3 months but because I'm in the 30'000's now she wants to see me in 2 months. My platelets are at 35,000. I was told at 30,000 I have to start treatment. I know there is Promacta and NPlates for those who have low platelets. So there is a treatment. I have a tet 2 mutation. Watch and wait can leave you with a feeling of helplessness. I am on a few MDS support groups but there is very few that has platelets only affected. I do at times have bone pain and as you I can only take Tylenol. I don't think my doctor feels the bone pain is MDS. I don't have much bruising just petechia on my lower legs and feet. I really don't have any answers for you because I have no none for myself but I do get it. I try to live my life and not let it affect me but in the back of my mind it is there. Hope you can find a good support group soon.

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I had bloodwork yesterday, and my red and white cells are in the normal range, but my platelets are lower, at 32. So, I guess I'm pleased with it overall. My doctor doesn't have a hard and fast line where I'd start treatment for the low platelets. So far, I'm not a bleeder (but of course, I bruise easily) so we are "wait and see" on the platelets. My doctor has told me she has no explanation for my bone pain and fatigue. Yet, in a few groups, I've found people with CCUS or pre-MDS have said they always have bone pain and fatigue. So I don't understand why my doctor says this. To be fair, some of the others I just described said their doctors had said the same: no reason for bone pain. I'd like to keep in touch; my platelets keep going down, too, so I am reasonably sure those drugs are in my future too. I've been told (not by my doctor but by others in various groups) that my gene mutation is the worst one: TP53 (the dreaded TP53, as one group member told me). What I don't understand is the difference between CCUS, low-risk MDS (I believe the "low-risk" part refers to your chances of getting AML), and pre-MDS. I honestly didn't know you could be MDS if you only had platelet involvement, but I'm new to all this and have so much to learn. I want to thank everyone for being patient with me and helping me figure this out. I've had low platelets since "at least" 2014.

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Hi @pixiesusan
You have some very good questions that deserve answers. Both CCUS and MDS are very complex conditions. There are many factors that are considered as part of diagnosis, treatment and ultimate prognosis. Everyone’s experience with this is different. I find it comforting to go to my appointments with my significant other. This can be a source of comfort. Also, a support person can often pick up things you may not have heard. Have you asked your hematologist to explain your specific mutations and treatment plan to you in laymen’s terms?

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@audreyl23

Hi @pixiesusan
You have some very good questions that deserve answers. Both CCUS and MDS are very complex conditions. There are many factors that are considered as part of diagnosis, treatment and ultimate prognosis. Everyone’s experience with this is different. I find it comforting to go to my appointments with my significant other. This can be a source of comfort. Also, a support person can often pick up things you may not have heard. Have you asked your hematologist to explain your specific mutations and treatment plan to you in laymen’s terms?

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That's on my list! 😉

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@pixiesusan

I had bloodwork yesterday, and my red and white cells are in the normal range, but my platelets are lower, at 32. So, I guess I'm pleased with it overall. My doctor doesn't have a hard and fast line where I'd start treatment for the low platelets. So far, I'm not a bleeder (but of course, I bruise easily) so we are "wait and see" on the platelets. My doctor has told me she has no explanation for my bone pain and fatigue. Yet, in a few groups, I've found people with CCUS or pre-MDS have said they always have bone pain and fatigue. So I don't understand why my doctor says this. To be fair, some of the others I just described said their doctors had said the same: no reason for bone pain. I'd like to keep in touch; my platelets keep going down, too, so I am reasonably sure those drugs are in my future too. I've been told (not by my doctor but by others in various groups) that my gene mutation is the worst one: TP53 (the dreaded TP53, as one group member told me). What I don't understand is the difference between CCUS, low-risk MDS (I believe the "low-risk" part refers to your chances of getting AML), and pre-MDS. I honestly didn't know you could be MDS if you only had platelet involvement, but I'm new to all this and have so much to learn. I want to thank everyone for being patient with me and helping me figure this out. I've had low platelets since "at least" 2014.

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Pixiesusan, so good to hear back from you. My first bone biopsy in Oct. of 21 had me with CCUS. Almost a year later Sept. of 22 second bone marrow biopsy noted " The patients history of clonal hematopoiesis with TET 2 mutation is noted. Given the degree of thrombocytopenia and morphologic dysplasia, the current marrow is best classified as Myelodysplasia with Single Lineage Dysplasia. MDS-SLD" There is also the question could pathology got it wrong? I don't know? I have not had another biopsy since then. I had a Blood Flow Cytometry that showed "raised concern for myeloid neoplasm." Doctor explained to me that was MDS. All of this makes my head spin. Either way whatever it is low platelets are the problem and getting lower can cause spontaneous bleeding for both of us and the treatment would be the same. You are correct about the "low risk" pertains to our chances of getting AML. They haven't changed my risk factor even with them going lower. One book I read said " in the 20,000's/mm often indicates the MDS is evolving from lower-risk to higher risk." Others don't agree with that. I have read that people with higher risk (meaning all three cells involved) get down in the 20's and even lower and are not on treatment for the platelets. The book also stated that "low platelet count occurs least commonly as and initial sign of MDS." We are rare! I am 68 have some mobility issues that is why my doctor told me I cannot go lower than 30,000. She has a concern for me falling and causing a bleed. Like you my low platelets stated quite awhile ago in 2017. So I guess you could say we both are on quite a journey. I would love to talk to others with just platelets and see what their journey has been but seems to be so few of us. Hope you are feeling better and I look forward to following along with you on your journey if you post......take care.

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@1dgrab

Pixiesusan, so good to hear back from you. My first bone biopsy in Oct. of 21 had me with CCUS. Almost a year later Sept. of 22 second bone marrow biopsy noted " The patients history of clonal hematopoiesis with TET 2 mutation is noted. Given the degree of thrombocytopenia and morphologic dysplasia, the current marrow is best classified as Myelodysplasia with Single Lineage Dysplasia. MDS-SLD" There is also the question could pathology got it wrong? I don't know? I have not had another biopsy since then. I had a Blood Flow Cytometry that showed "raised concern for myeloid neoplasm." Doctor explained to me that was MDS. All of this makes my head spin. Either way whatever it is low platelets are the problem and getting lower can cause spontaneous bleeding for both of us and the treatment would be the same. You are correct about the "low risk" pertains to our chances of getting AML. They haven't changed my risk factor even with them going lower. One book I read said " in the 20,000's/mm often indicates the MDS is evolving from lower-risk to higher risk." Others don't agree with that. I have read that people with higher risk (meaning all three cells involved) get down in the 20's and even lower and are not on treatment for the platelets. The book also stated that "low platelet count occurs least commonly as and initial sign of MDS." We are rare! I am 68 have some mobility issues that is why my doctor told me I cannot go lower than 30,000. She has a concern for me falling and causing a bleed. Like you my low platelets stated quite awhile ago in 2017. So I guess you could say we both are on quite a journey. I would love to talk to others with just platelets and see what their journey has been but seems to be so few of us. Hope you are feeling better and I look forward to following along with you on your journey if you post......take care.

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We certainly are on a journey, and I have realized how little I know about what is going on with my health. I honestly don't think that's the fault of my doctor; in the beginning, I didn't have any genetic changes, and I was 100% wait-and-see. I believe they detected the first change in 2022, but I skipped 2 years prior to that due to COVID (my choice, but it doesn't change anything). When I went in 2022, I discovered a problem with my TP53 gene via a blood test at Dana Farber. And even then, no one said MDS or cancer; it was just, "We will continue to get frequent blood work and see." I get my blood work locally, so it's not any genetic testing; it's just CBC, keeping an eye on my platelets. As I said before, my platelets are drifting down. I'm still CCUS and not MDS, so far. It doesn't seem like there are many of us around. I am on a Facebook group for MDS, but many of the comments in that group go way over my head. I need to learn more about this; however, since I'm a world-class worrier, I'm not sure that's good for me. 😉 But it's what it is, and I think knowing is better than not knowing. I hope you are feeling okay right now. I'll send you some good zen.

PS I know I answer these quickly like I'm waiting, but I work online, so I see the emails when they come in!

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