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  #1  
Old Wed Jun 27, 2018, 12:40 PM
BDKELL BDKELL is offline
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Location: Jacksonville, Florida, USA
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New Member/Biopsy ???

Hello, Thank you for allowing me to join the group. My name is Brian and my Mother and I are caregivers for my 75 y/o Father who was recently diagnosed with MDS. He is currently receiving Procrit shots and started Revlimid pills on Monday. I am still trying to learn all I can; I had allot of questions for the Oncologists who answered some of them. They told me he was high risk and he was not a candidate for a Transplant. When I asked what sub-type was his MDS she told me they do not type them anymore which did not seem right. I bought up to my Dad maybe we should get a second opinion and he is adamant that he does not want to do that. I was able to get a copy of his BMB report, which states the following:

ABNORMAL MALE KARYOTYPE

46,XY, add(5)(q13)(2)/44-47,idem,-7,-9,add(15)(q22),-16,add(17)(p 11.2),+21,+1-2mar[cp16]/46,XY[2]

Cytogenetic analysis shows abnormal male karyotype. Two cells show additional unidentified material on 5q, resulting in deletion of 5q, and a composite of sixteen cells show this change as well as loss (monosomy) of chromosomes 7, 9 and 16, additional unidentified material on 15q and 17p, resulting in deletions of 15q and 17p (TP53), a gain (trisomy) of chromosome 21 and one to two unidentified marker chromosomes, indicating clonal evolution. Two cells show a normal karyotype.

Can anyone help me interpret what this means? Sorry for the long post…
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  #2  
Old Wed Jun 27, 2018, 11:17 PM
BDKELL BDKELL is offline
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Well I guess I asked the wrong questions, over 40 views and no replies, not even a hello... I'm sorry..
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  #3  
Old Thu Jun 28, 2018, 02:05 AM
lisa3112 lisa3112 is offline
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Hi,
Sorry I am not familiar with cytogenetics. I'm sure someone will have an idea.. hopefully your dad decides to get a second opinion. Good luck!
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Now 30yr old. Diagnosed AML dec 2015 (Most likely MDS prior). Trisomy 6. Runx1 mutation also. Had induction and consolidation chemo. Marrow failure ++ so SCT on 21st of March with MUD. Married with a 1yr old!
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  #4  
Old Thu Jun 28, 2018, 08:00 AM
BDKELL BDKELL is offline
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Sorry, I'm just overwhelmed with my Dads care, I don't know how to help him, I'm just trying to find answers and when I ask the Dr's they act like they are the experts and I shouldn't question them... well they better buckle up because this is my Dad your talking about... my Dad is fading fast, a few weeks ago he was 215lbs, now he is 170lbs, I just don't want to lose my hero...
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  #5  
Old Thu Jun 28, 2018, 09:24 AM
Sally C Sally C is offline
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Hi BDKELL,
I can certainly understand your confusion and frustration. Hematology is so extremely complex so please understand that people do care, they just don't have the answers.
I copied this years ago from someone on Marrowforums who posted it. I don't remember who so I can't give them credit but I hope this helps.
All the best,
Sally

Cytogenetics from my personal experience:

I was extremely confused when I received my first cytogenetic report. I understood that I had "complex cytogenetics" meaning multiple chromosome abnormalities and that this was very bad news. After a lot of reading, this is my basic understanding of the notations in the report. Notations vary slightly from lab to lab. Anyone, please correct me if I'm wrong about any of this info. I have no medical expertise and don't want to give out misinformation.

Cytogenetics, for our purposes, is the study of chromosomes and their structure. We are not talking about inheritance and genetics. Each of our cells has 23 pairs of chromosomes or a total of 46. The term "karyotype" means the arrangement and structure of the chromosomes. If one has no chromosome abnormalities, it will be designated 46,XX for a female or 46,XY for a male.

The pairs of chromosomes are labeled 1 through 23, and each individual chromosome has two arms, the top or short arm is labeled "p" and and the bottom or long arm is labeled "q". Each arm has numerically labeled regions.

In damaged chromosomes, anomalies or defects are generally classified as deletions, additions, translocations or inversions.

Deletions:If an entire chromosome is missing, it is designated monosomy, such as "monosomy 7" or "-7"; If only part of a chromosome is missing it is designated del( ). For example a deletion of the entire q arm of chromosome 5 might be notated "del(5q)" or "-5q"; if only part of an arm is missing, there will be an additional notation showing which region, for example "del(5q21:33)" or "del(5)(q21)".

Additions: Sometimes there is an extra copy of a chromosome, called trisomy, such as "trisomy 8" or "tri(8)" or "+8". Sometimes instead of a copy, there is an addition of unknown origin, designated "marker" such as "mar(unknown)" or "+mar".

Inversions: Sometimes the arms of a chromosome are partially or completely inverted - all or part of the p arm is swapped with all or part of the q arm on the same chromosome. This is noted something like "inv(4)(p13q22)" to show which regions are swapped.

Translocations: Sometimes part of a chromosome gets swapped with or added to part of a different chromosome. This is noted something like "t(9;22)(q34;q11.2)" meaning part of chromosome 9 (region q34) is swapped with part of chromosome 22 (region q11.2).

Going back to my own report as a full example, here is what it showed:

46,XX,-3,del(5)(q14q33),-6,+8,+mar[14]/46,XX[6]

My sample size was 20 cells. Of these [14] were abnormal with multiple anomalies and [6] had no defects.

46,XX = each cell had 46 chromosomes, all female

-3 = monosomy 3 = one of the chromosomes in pair number 3 was completely missing

del(5)(q14q33) = region 14-33 of the long arm q of one of my chromosomes in pair number 5 was deleted. This is common in MDS. If it had been the only anomaly, my prognosis would have been good but combined with my other anomalies, it wasn't.

-6 = monosomy 6 = one of the chromosomes in pair number 6 was completely missing

+8 = trisomy 8 = I had an extra copy of one of the chromosomes in pair number 8. This may be associated with AML.

+mar = I had some extra chromosome material of unknown type and origin. Sometimes the material can be identified and offers clues to prognosis or origin. Mine did not.

After 3 cycles of Vidaza, I had the same abnormalities but only in 1 of the 20 cells sampled in my biopsy, so the report looked like this:
46,XX,-3,del(5)(q14q33),-6,+8,+mar[1]/46,XX[19]

I'm happy to say that I've had 4 bone marrow biopsies since November 2010, all with cytogenetics reported as 46,XX[20], i.e. no abnormalities.
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  #6  
Old Thu Jun 28, 2018, 02:23 PM
Rarity Rarity is offline
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Hi BDKell,
So sorry to hear of your dad's MDS diagnosis. It is quite a shock for everyone when they are first informed. There's a lot of information to learn and to take in and it can be overwhelming. Just make sure you are looking on reputable sites and even with that it can be contradictory. I'm sure someone will help with your question. These are very informative and supportive individuals on the forum. Best wishes to your Dad.
Rarity
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  #7  
Old Thu Jun 28, 2018, 04:49 PM
BDKELL BDKELL is offline
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I'm sorry everybody, I have just been looking for answers since my Father's diagnosis, I haven't been sleeping real well, I keep thinking at any moment I could lose the only real life hero I have ever known, just a few weeks ago my Dad was working, driving, a healthily 213 libs, now he is getting transfusions every other day, he can hardly breathe and is on oxygen and he's pale from anemia and only weighs 170 lbs. I'm just looking for answers to something I think that I already know, they transferred my Dad to a rehab hospital and he said his next stop is hospice, just overwhelming...
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  #8  
Old Thu Jun 28, 2018, 09:46 PM
Sally C Sally C is offline
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I am so very sorry to hear this. There is nothing anyone can say to make this better. All I can say is how Blessed your Dad is to have you - and I'm sure he knows it. Lean on those close to you - you need them and I'm sure they need you.
God Bless
Sally
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  #9  
Old Thu Jun 28, 2018, 10:34 PM
Hopeful Hopeful is offline
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BDKELL,

I am so sorry to read about your dad. Have they talked about Vidaza to slow the progression to leukemia, even if he isn't a transplant candidate?
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52 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
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  #10  
Old Tue Jul 3, 2018, 08:26 AM
BDKELL BDKELL is offline
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Thank You

Thanks Everybody for your replies... I went with my Dad Friday to his Oncologist appointment. We saw a different Dr. and he answered allot of questions. He said right now he was RAEB-1, and said we might want to consider starting Vidaza. They did his blood work and his Hemoglobin was 5.3 so they had to admit him into the hospital and after his transfusion they got it up to 7.4 and released him to the rehab hospital. My Mother broke down last night because he wont eat and he keeps telling her all this is futile that he wont be coming home. I know its hard on her, they have been married for over 50 years I know he is discouraged.

Any suggestion about getting him to eat? I know the condition and the medication zaps their appetite, its hard to see him wasting away like this.
Thanks again for the replies, and letting me vent a little, I was not trying to be a butt but was a little in shock and was not getting answers at first from Dr.
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  #11  
Old Tue Jul 24, 2018, 11:38 PM
BDKELL BDKELL is offline
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Thank you everyone who offered me advice... my Father has lost his battle and will be going on comfort care tommorow, the Revlimid never had a chance to work, what a horrible disease...
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  #12  
Old Wed Jul 25, 2018, 07:40 AM
Meri T. Meri T. is offline
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I am very sorry that you have to go through this. Please take care of yourself and your Mother.
Your Father will be in my prayers.
Meri.
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Female 52, diagnosed MDS RAEB1 in August 2016, watch and wait for 9 months. Sibling match - Stem cell transplant in June 2017. GVHD GI tract, liver, skin, eyes. Thanking God everyday for Life is wonderful.
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  #13  
Old Mon Aug 6, 2018, 08:46 PM
KatailS KatailS is offline
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Quote:
Originally Posted by BDKELL View Post
Thank you everyone who offered me advice... my Father has lost his battle and will be going on comfort care tommorow, the Revlimid never had a chance to work, what a horrible disease...
So sorry for all your father, your mother, you and your family are going through. I don’t have any wisdom to share with you, ..... no educated words, no advice ..... all I can say is that life is precious but your loved ones are even more so. Find comfort in each other. I am keeping you all in my thoughts and prayers. I wish there was more I could say or do.
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Kathie - 54 yr old mother of 4, pancytopenia since 11/2014, moderate AA 8/2016, small PNH clone (now increasing), monitor bloodwork every three months
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  #14  
Old Sun Sep 9, 2018, 05:37 PM
BDKELL BDKELL is offline
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Just thought I would check in and offer my thoughts and prayers to everyone fighting. Thank you all for all your prayers my Dad passed July 25th peacefully, it is surreal, I can't believe it... keep fighting, he didn't give up... Thanks to all who offered me advice...
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  #15  
Old Sun Sep 9, 2018, 07:32 PM
Sally C Sally C is offline
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Brian, I am very sorry to hear this. He was very Blessed to have such a loving son. I wish God's Comfort for you and your family in the coming days.
Sally
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