Need your advice about cytogenetics

[italianburrito]

My father was recently diagnosed with RAEB2 multilineage with an increasing blast count. The most recent being 18% in the peripheral blood. He will be on Vidaza for 5 days every 4 weeks for 6 months to get his blast down so they can do a stem cell transplant. When he was originally diagnosed, the doctor said his cytogenetics were normal! Needless to say the doctor seemed a little puzzled and thinks there are a couple of things going on. With the cytogenetics being normal he said the risk is now intermediate (from very high) which is a relief. Has anyone experience a normal cytogenetic profile??? very odd

[Neil Cuadra]

italianburrito,

Your father presumably has a high blast count in his bone marrow as well as in his peripheral blood, and that's part of an MDS diagnosis. Abnormal cell morphology (shape and appearance) are also evaluated.

A certain percentage of MDS patients have normal cytogenetics. According to this article by Dr. Sekeres at the Cleveland Clinic, it's 20% to 50%, depending on the type of test performed. From the article:

Cytogenetic abnormalities are found in approximately 50% of MDS patients using conventional karyotyping techniques, and in up to 80% using single nucleotide polymorphism array technology.

My wife's situation was different. She was lucky not to have excess blasts (MDS-RA, not RAEB), but unlucky to have abnormal cytogenetics. She was cured by a transplant.

Hearing that your father has a lowered risk level is very positive news. I hope they can get his blast count down with minimal side effects from Vidaza.

[italianburrito]

Neil, That is the hope that he will also receive a SCT as soon as the blasts are 0%. I read that as well that it is common for the cytogenetics to be normal so I am confused as to why the doctors would be confused. The doctors said they caught this early since he has no cytopenias at the moment and feels fine. I just hope the blast count can go down so we can do the transplant ASAP.

[Neil Cuadra]

italianburrito,

His blast count doesn't have to be 0%, for two reasons:

1. A blast count of less than 5% in the marrow is considered normal. Blasts are immature white blood cells, so you normally have a supply of them, maturing in the bone marrow and then being released as white blood cells into the bloodstream.
   
   
2. According to a research report in the International Journal of Hematology (May 2013), once the blast count is below 12%, it doesn't matter exactly what number it is. In their study, the transplant success rate was found to be the same with any blast count under 12%.

From your user name it sounds like your family has a mixed heritage. Did your father find a matched stem cell donor?

[italianburrito]

Originally Posted by Neil Cuadra

italianburrito,

His blast count doesn't have to be 0%, for two reasons:

1. A blast count of less than 5% in the marrow is considered normal. Blasts are immature white blood cells, so you normally have a supply of them, maturing in the bone marrow and then being released as white blood cells into the bloodstream.
   
   
2. According to a research report in the International Journal of Hematology (May 2013), once the blast count is below 12%, it doesn't matter exactly what number it is. In their study, the transplant success rate was found to be the same with any blast count under 12%.

From your user name it sounds like your family has a mixed heritage. Did your father find a matched stem cell donor?

To clarify, Dr. Rizzieri from Duke said his peripheral blood needs to be at 0% to be given the transplant. That is interesting about the blast count needing to be below 12%... will need to research that! And yes I am mexican/Italian but my dad is 100% Italian. My aunt and Uncle and been sent swabs to see if they are a match. If they are not, I am hoping the search for a donor wont be long because of my dads heritage.

[Neil Cuadra]

Originally Posted by italianburrito

To clarify, Dr. Rizzieri from Duke said his peripheral blood needs to be at 0% to be given the transplant.

Yes, wanting 0% blasts in peripheral blood makes sense. Blasts aren't supposed to leave the bone marrow until they are mature and are therefore no longer blasts. The study I mentioned was only about blasts in the bone marrow.

Good luck with the donor search. With 2 siblings, the odds are over 40% that one will match. If not, having a European heritage and both of his parents from the same country will help his chances for an unrelated donor match.

[Cheryl C]

My cytogenetics have been normal all along (last tested Feb 2014).

[italianburrito]

Originally Posted by Cheryl C

My cytogenetics have been normal all along (last tested Feb 2014).

Thanks for responding Cheryl, did this change your treatment plan at all? I noticed by your signature that the blasts has reduced on its own. Thats amazing!! I just find it so odd that genetically the marrow tissue is normal but there is obvious disease going on. I just hope the vidaza keeps him from turning to AML.

[italianburrito]

Originally Posted by Neil Cuadra

Yes, wanting 0% blasts in peripheral blood makes sense. Blasts aren't supposed to leave the bone marrow until they are mature and are therefore no longer blasts. The study I mentioned was only about blasts in the bone marrow.

Good luck with the donor search. With 2 siblings, the odds are over 40% that one will match. If not, having a European heritage and both of his parents from the same country will help his chances for an unrelated donor match.

Thank you Neil! And I appreciate your comments regarding my question. I know this is a long journey but I will be with him every step of the way. Labs taken again this tuesday so I hope the blast count hasnt gone up.

[traceyn11]

Hi Italian Burrito -
I was just recently diagnosed with RAEB-2 Int. and my cytogenetics came back normal too. My blasts were at 14%.

I just started my first round of Vidaza 7 days on, 3 weeks off to get the blast count down to do a SCT. It sounds like your dad and I are on a similar path. May I ask how old your dad is? I am 57.

Tracey

[Cheryl C]

No, I don't think my normal cytogenetics would have changed anything had my blasts not decreased. A drop in blasts is very rare. My bone marrow transplant specialist had the BMB results checked by three other specialists as he couldn't believe it. Blasts seemed to be the most the significant factor at the time. I was preparing for transplant and my older brother was compatible so it was all systems go until the blasts dropped.

[italianburrito]

Originally Posted by traceyn11

Hi Italian Burrito -
I was just recently diagnosed with RAEB-2 Int. and my cytogenetics came back normal too. My blasts were at 14%.

I just started my first round of Vidaza 7 days on, 3 weeks off to get the blast count down to do a SCT. It sounds like your dad and I are on a similar path. May I ask how old your dad is? I am 57.

Tracey

My dad is 64 years young. No other health problems so we at least started on a good foot. No other cytopenias at the moment. He is on Vidaza as well so I hope this helps him. This disease is awful but I hope the SCT will cure him.

[Cheryl C]

Many people in their 60s and even older are having SCTs and doing well and it sounds as though your dad is otherwise healthy which is a real advantage. It seems that if one can get through the first 2 years post SCT the prospects for long term survival are very high. Unfortunately no one can guarantee a successful outcome so it's important that your dad goes into transplant with full knowledge of the associated risks.

[Mary4Mike]

My husband had a SCT over 5 years ago. He had no blasts and normal cytogenetics. His diagnosis was RARS. His donor was his sister, his only sibling, and she was a perfect match. I noticed on another thread you asked about neuropathy. My husband has none. His only complaints are infrequent dry mouth and dry eyes. He did have tightness in his hands where the tendons in the palm of his hands were rigid. This subsided a few years ago. He hasn't taken any prescription drugs for over 3 years. This transplant has been a total success. It is wonderful that they are doing SCT so soon after diagnosis. My husband suffered with MDS for over 10 years before his transplant. My husband is 70 years young and you would never guess it to look at him. This has been a new lease on life. We thank the Lord everyday.

[traceyn11]

Wow, Mary! That is fantastic that your husband is doing so well! It's great to read that someone who was 65 at the time of his SCT came through it so well. Thanks for posting.

[Cheryl C]

A wonderful story, Mary. It seems that in Australia transplants aren't done for low risk MDS or unless blasts are >5%.

[italianburrito]

Originally Posted by Cheryl C

Many people in their 60s and even older are having SCTs and doing well and it sounds as though your dad is otherwise healthy which is a real advantage. It seems that if one can get through the first 2 years post SCT the prospects for long term survival are very high. Unfortunately no one can guarantee a successful outcome so it's important that your dad goes into transplant with full knowledge of the associated risks.

I have watched and read countless videos and articles regarding this topic so the risk is still there. I am an oncology nurse so I also feel like I know too much? Its so odd to be on the other side of treatment

[italianburrito]

Originally Posted by Mary4Mike

My husband had a SCT over 5 years ago. He had no blasts and normal cytogenetics. His diagnosis was RARS. His donor was his sister, his only sibling, and she was a perfect match. I noticed on another thread you asked about neuropathy. My husband has none. His only complaints are infrequent dry mouth and dry eyes. He did have tightness in his hands where the tendons in the palm of his hands were rigid. This subsided a few years ago. He hasn't taken any prescription drugs for over 3 years. This transplant has been a total success. It is wonderful that they are doing SCT so soon after diagnosis. My husband suffered with MDS for over 10 years before his transplant. My husband is 70 years young and you would never guess it to look at him. This has been a new lease on life. We thank the Lord everyday.

Wow your story is truly inspiring! I hope and pray that He will have the same outcome as your husband. So far the only complaint he has is fatigue and needs a daily afternoon nap but his Hgb is sitting around 8.5. I am a nurse so I will be with him every step of the way. Thank you for your story

[italianburrito]

Originally Posted by traceyn11

Wow, Mary! That is fantastic that your husband is doing so well! It's great to read that someone who was 65 at the time of his SCT came through it so well. Thanks for posting.

Yes keep the good stories coming!

[rar]

Make sure that when you have a BMB that they check for mutant IDH1/2. There are drugs that are very effective against this mutation. I got my blasts down from 15% to 2% in 2 months on AG-221.

65 is not that old. I was 73 when I got my SCT 10 months ago. My oncologist is optimistic for the long term. My skin cancer doctor told me he would never believe I had a SCT, I looked to healthy.

Ray

[italianburrito]

Just wanted to give a little update on my dad. Today is cycle2 D2 of vidaza and his labs yesterday showed blast at 1% (from an 18% 3 weeks ago) !!! The doctor is really happy with how he is responding to chemo and will still complete 6 cycles to in his words "bring you down slowly to build you back up". He is still battling nausea but is taking compazine for this with mild relief. Dr. M put him on septra when this all started prophylactically so I am wondering if this could be the cause of the nausea and not the chemo?? For people on Viadaza have you had nausea?

[traceyn11]

Wow, that is great news about the blast count! I start my cycle 2 next Monday. I don't do my labs until Sunday, but I would love to get good news like that too!

To answer about the Vidaza causing nausea - yes for me it did on my first cycle. I took Zofran which helped, but I still felt nauseous, just not as bad. I do however get motion sickness pretty easily too.

How is your dad feeling otherwise?

Tracey

[italianburrito]

Originally Posted by traceyn11

Wow, that is great news about the blast count! I start my cycle 2 next Monday. I don't do my labs until Sunday, but I would love to get good news like that too!

To answer about the Vidaza causing nausea - yes for me it did on my first cycle. I took Zofran which helped, but I still felt nauseous, just not as bad. I do however get motion sickness pretty easily too.

How is your dad feeling otherwise?

Tracey

My dad always downplays how he feels so we ask him what his number is 1-10 out of 10 to really understand him. On monday he says he is an 8/10. Dr. M was really hesitant about giving him blood because he feels that it might interfer with the transplant but he was having so many symptoms that he ordered 1 U of packed red cells yesterday. He now says he is an 8.5/10. He is talking better and seems more like himself. His Hgb went down to 7.2 this week!! Waaaay too low but thats this awful disease for you. I just hope his marrow can natually raise his Hgb. How are you feeling so far other than your slight nausea?

[traceyn11]

Originally Posted by italianburrito

My dad always downplays how he feels so we ask him what his number is 1-10 out of 10 to really understand him. On monday he says he is an 8/10. Dr. M was really hesitant about giving him blood because he feels that it might interfer with the transplant but he was having so many symptoms that he ordered 1 U of packed red cells yesterday. He now says he is an 8.5/10. He is talking better and seems more like himself. His Hgb went down to 7.2 this week!! Waaaay too low but thats this awful disease for you. I just hope his marrow can natually raise his Hgb. How are you feeling so far other than your slight nausea?

Sounds like the red cells gave him the little boost he needed! I hope his Hgb goes up.

I am doing pretty good right now. I had quite a bit of pain at my injection sites during chemo and the week after, but this week that is much better although you can still see some red areas and bruising. My energy level is normal though so I am happy about that. Thanks for asking.

Tracey