My first bone marrow biopsy was in 2012 due to an incidental finding of ANC ~700, WBC ~3, PLT ~100K. I saw a hematologist every six months for 6 years with stable and slightly improved counts. In 2018, I had a second bone marrow biopsy. There was no significant dysplasia and no real change from 2012. At that time, I also had a rapid heme panel (NGS) that revealed DNMT3A and TET2 mutations with high VAFs (~40%). Since 2018, I've had lower than normal but stable blood counts for four years. In the past two years, my counts have begun to decline further. My ANC and WBCs remain low but are up a bit for me. This is likely due to Prednisone I've been on. Platelets have declined to between 75-80K over the past four months in a row. Repeat bone marrow biopsy has not revealed any significant dysplasia and no blasts, fortunately. The diagnosis remains CCUS. However, I have acquired a third mutation (CUX-1). My only symptom is fatigue. Comorbidities I have include psoriatic arthritis and atherosclerotic heart disease. My physicians think both are related to CCUS.
@audrey123 for these diseases that are labeled “undetermined significance,” they have certainly been significant in our health histories. Do you have greatly increased trouble with excessive bleeding accompanying your platelet reduction?
I've had a diagnosis of Clonal Cytopenia of undetermined significance since 2018. (Biopsy and genetic sequencing panel proven genetic mutations). My WBC, ANC and platelets have been below normal since 2012. CCUS males one highly susceptible to myelodysplastic syndrome and AML. Does anyone else on this site have CCUS?
I have a diagnosis of CCUS as well. I chose to let my Doctors do the worrying for me. why worry about something we have no control over. I just had my 4th Bone marrow biopsy.
Like you my counts have been up and down for 30 years. Sounds crazy , I know. Sure I find it inconvenient to wear masks in many crowded places but it is what it is. I sometimes take my mask off just to feel comfortable. My advice, would be to hang in there and know you are not alone.
@audrey123 for these diseases that are labeled “undetermined significance,” they have certainly been significant in our health histories. Do you have greatly increased trouble with excessive bleeding accompanying your platelet reduction?
Hi Patty, I do have easier bruising and slightly prolonged bleeding. Thus far at 75-80K platelets count, I have not suffered any serious consequences. I'm followed every three months. For me, the unknown is the most unsettling.
Hello. I got my results back from the next generation sequencing that was done back
in September. Just showed a low level KM2TC at 2.5 which is less than it was with the
bone marrow biopsy. The ASXL1 didn't show up on the blood panel at all. I don't know what it all
means. Hopefully the remedy for my low counts is an easy fix. I'll find out this week.
I have a diagnosis of CCUS as well. I chose to let my Doctors do the worrying for me. why worry about something we have no control over. I just had my 4th Bone marrow biopsy.
Like you my counts have been up and down for 30 years. Sounds crazy , I know. Sure I find it inconvenient to wear masks in many crowded places but it is what it is. I sometimes take my mask off just to feel comfortable. My advice, would be to hang in there and know you are not alone.
Thank you for your reply and inspiration. I'm sorry you've been dealing with this for so long but glad to hear you've done so well. You do have a great outlook. I am in the medical field and easily find myself going down the rabbit hole of reading too much. Do you mind sharing your mutations and VAF?
Thank you for your reply and inspiration. I'm sorry you've been dealing with this for so long but glad to hear you've done so well. You do have a great outlook. I am in the medical field and easily find myself going down the rabbit hole of reading too much. Do you mind sharing your mutations and VAF?
My mutations are KMT2C and ASXL1, they were detected in a past bone marrow biopsy.
the ASXL1 didn't even show up in the NGS. the genes that were impacted are as follows
TERF2 VAF = 60.7%
FAT1. VAF= 51.1%
AKAP6 VAF= 47.9%
ATM VAF= 37.9%
DUSP22 VAF=22.4%
KMT2C VAF= 2.5%
I believe the only ones they seem to be concerned about are the KMT2C wich was at 3.4%
and the ASXL1 at 1.35%
To me this is all Mumbo Jumbo.
My counts have fluctuated for the past 25-30 years. I started out having a couple of lymph
nodes biopsied and my 1st BMB was in 1999 when my white count was at somewhere below
3.0.
On the lighter side i never really get sick or ill. I did have a rather large pulmonary embolism in 2017 and another BMB a year later. had another BMB in 2023, and my last one a couple of weeks ago. ( I think I'll start charging for bone marrow). The Mayo clinic is wonderful.
Perhaps they will find a cure to stabilize those wacko blood counts. I'd hope for a pill. My Dr
at the Mayo Clinic did mention that these mutations may clear on their own . Who knows.
we can only hope . I believe miracles happen to everyone every day.
So to everyone with this wacky diagnosis heads up.
My mutations are KMT2C and ASXL1, they were detected in a past bone marrow biopsy.
the ASXL1 didn't even show up in the NGS. the genes that were impacted are as follows
TERF2 VAF = 60.7%
FAT1. VAF= 51.1%
AKAP6 VAF= 47.9%
ATM VAF= 37.9%
DUSP22 VAF=22.4%
KMT2C VAF= 2.5%
I believe the only ones they seem to be concerned about are the KMT2C wich was at 3.4%
and the ASXL1 at 1.35%
To me this is all Mumbo Jumbo.
My counts have fluctuated for the past 25-30 years. I started out having a couple of lymph
nodes biopsied and my 1st BMB was in 1999 when my white count was at somewhere below
3.0.
On the lighter side i never really get sick or ill. I did have a rather large pulmonary embolism in 2017 and another BMB a year later. had another BMB in 2023, and my last one a couple of weeks ago. ( I think I'll start charging for bone marrow). The Mayo clinic is wonderful.
Perhaps they will find a cure to stabilize those wacko blood counts. I'd hope for a pill. My Dr
at the Mayo Clinic did mention that these mutations may clear on their own . Who knows.
we can only hope . I believe miracles happen to everyone every day.
So to everyone with this wacky diagnosis heads up.
Thank you for sharing your info. My mutations are entirely different but also diagnosed as CCUS. I've fortunately been relatively well too. (other issues but thankfully no cancer!!) The worst part of this diagnosis is the unknown effects of the genetic mutations... I'm glad to hear you've done so well for so long. I truly hope you continue to stay well! Yes, a cure would be wonderful. They seem to be learning more and making headway every day.
I have been diagnosed with CCUS, too. I don't really know anything about how genes are affected, and I'm not sure knowing would change anything. I've had low blood platelets since 2014; however, no one caught it until years later (and I have a physical every year). I'm now going, once a year, to Dana Farber in Boston, and I guess with some recent gene changes, they now call it CCUS. I feel like it's a matter of time before I get MDS or worse. I want to connect with others to see how they are doing and see what if any, symptoms you have. I have very low blood platelets and am constantly exhausted.
I have been diagnosed with CCUS, too. I don't really know anything about how genes are affected, and I'm not sure knowing would change anything. I've had low blood platelets since 2014; however, no one caught it until years later (and I have a physical every year). I'm now going, once a year, to Dana Farber in Boston, and I guess with some recent gene changes, they now call it CCUS. I feel like it's a matter of time before I get MDS or worse. I want to connect with others to see how they are doing and see what if any, symptoms you have. I have very low blood platelets and am constantly exhausted.
Welcome to Connect, @pixiesusan. When you have an uncommon diagnosis it can be so helpful to be able to talk with others with similar condition. As you’ve already seen, @audreyl23@j68eis@mlarneson and @thipley have been sharing their experiences in the forum. I hope they’ll be able to help you out with your questions.
You mentioned your platelet level runs low and you’re constantly exhausted. Is your hemoglobin also on the low side?
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My first bone marrow biopsy was in 2012 due to an incidental finding of ANC ~700, WBC ~3, PLT ~100K. I saw a hematologist every six months for 6 years with stable and slightly improved counts. In 2018, I had a second bone marrow biopsy. There was no significant dysplasia and no real change from 2012. At that time, I also had a rapid heme panel (NGS) that revealed DNMT3A and TET2 mutations with high VAFs (~40%). Since 2018, I've had lower than normal but stable blood counts for four years. In the past two years, my counts have begun to decline further. My ANC and WBCs remain low but are up a bit for me. This is likely due to Prednisone I've been on. Platelets have declined to between 75-80K over the past four months in a row. Repeat bone marrow biopsy has not revealed any significant dysplasia and no blasts, fortunately. The diagnosis remains CCUS. However, I have acquired a third mutation (CUX-1). My only symptom is fatigue. Comorbidities I have include psoriatic arthritis and atherosclerotic heart disease. My physicians think both are related to CCUS.
@audrey123 for these diseases that are labeled “undetermined significance,” they have certainly been significant in our health histories. Do you have greatly increased trouble with excessive bleeding accompanying your platelet reduction?
I have a diagnosis of CCUS as well. I chose to let my Doctors do the worrying for me. why worry about something we have no control over. I just had my 4th Bone marrow biopsy.
Like you my counts have been up and down for 30 years. Sounds crazy , I know. Sure I find it inconvenient to wear masks in many crowded places but it is what it is. I sometimes take my mask off just to feel comfortable. My advice, would be to hang in there and know you are not alone.
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Helpful -
Hug
1 ReactionHi Patty, I do have easier bruising and slightly prolonged bleeding. Thus far at 75-80K platelets count, I have not suffered any serious consequences. I'm followed every three months. For me, the unknown is the most unsettling.
Waiting for these results is hard. Best of luck!
Thank you for your reply and inspiration. I'm sorry you've been dealing with this for so long but glad to hear you've done so well. You do have a great outlook. I am in the medical field and easily find myself going down the rabbit hole of reading too much. Do you mind sharing your mutations and VAF?
My mutations are KMT2C and ASXL1, they were detected in a past bone marrow biopsy.
the ASXL1 didn't even show up in the NGS. the genes that were impacted are as follows
TERF2 VAF = 60.7%
FAT1. VAF= 51.1%
AKAP6 VAF= 47.9%
ATM VAF= 37.9%
DUSP22 VAF=22.4%
KMT2C VAF= 2.5%
I believe the only ones they seem to be concerned about are the KMT2C wich was at 3.4%
and the ASXL1 at 1.35%
To me this is all Mumbo Jumbo.
My counts have fluctuated for the past 25-30 years. I started out having a couple of lymph
nodes biopsied and my 1st BMB was in 1999 when my white count was at somewhere below
3.0.
On the lighter side i never really get sick or ill. I did have a rather large pulmonary embolism in 2017 and another BMB a year later. had another BMB in 2023, and my last one a couple of weeks ago. ( I think I'll start charging for bone marrow). The Mayo clinic is wonderful.
Perhaps they will find a cure to stabilize those wacko blood counts. I'd hope for a pill. My Dr
at the Mayo Clinic did mention that these mutations may clear on their own . Who knows.
we can only hope . I believe miracles happen to everyone every day.
So to everyone with this wacky diagnosis heads up.
-
Like -
Helpful -
Hug
1 ReactionThank you for sharing your info. My mutations are entirely different but also diagnosed as CCUS. I've fortunately been relatively well too. (other issues but thankfully no cancer!!) The worst part of this diagnosis is the unknown effects of the genetic mutations... I'm glad to hear you've done so well for so long. I truly hope you continue to stay well! Yes, a cure would be wonderful. They seem to be learning more and making headway every day.
I have been diagnosed with CCUS, too. I don't really know anything about how genes are affected, and I'm not sure knowing would change anything. I've had low blood platelets since 2014; however, no one caught it until years later (and I have a physical every year). I'm now going, once a year, to Dana Farber in Boston, and I guess with some recent gene changes, they now call it CCUS. I feel like it's a matter of time before I get MDS or worse. I want to connect with others to see how they are doing and see what if any, symptoms you have. I have very low blood platelets and am constantly exhausted.
Welcome to Connect, @pixiesusan. When you have an uncommon diagnosis it can be so helpful to be able to talk with others with similar condition. As you’ve already seen, @audreyl23 @j68eis @mlarneson and @thipley have been sharing their experiences in the forum. I hope they’ll be able to help you out with your questions.
You mentioned your platelet level runs low and you’re constantly exhausted. Is your hemoglobin also on the low side?