Abnormal or not???

[Data]

I just read my last bone marrow biopsy report and it said in part:

Chromosome Analysis
RESULTS: 46,XY,t(7;18)(q11.2;q12.2)[2]/46,XY[19]
Abnormal karyotype, male
INTERPRETATION:
Two of the twenty one mitotic cells examined were characterized by a
translocation between the long arms of chromosomes 7 and 18. No
abnormalities were evident in the remaining nineteen cells.
The abnormality described here is not disease or cell lineage
specific, although its clonal nature is evident.

Is this considered abnormal when you use the IPSS or IPSS-R calculator? Any other ideas of what this means?

Thanks for all ideas or opinions in advance!!!!


Data

[Julianna]

Sorry not sure. Might have to wait for your Drs input. Hard to wait I know. Hang in there. Hope they can give u some answers & an idea for treatment soon.

[Data]

I may have found the answer to my own question. Dr. David Steensma, (physician at the Dana-Farber Cancer Institute and professor at Harvard Medical School) wrote the following in “Understanding Chromosome Analysis – Part 3: MDS-Related Chromosome Abnormalities And How They Affect Prognosis And Treatment Decisions.”

Only a small number of chromo¬some patterns are counted in the IPSS, including the five most common MDS-associated abnormal patterns: loss of part or all of chromo¬some 7 or loss of the entire Y chromo¬some, deletion of the long arm (q arm) of either chromo¬some 5 or chromo-some 20, and the presence of complex patterns in which there are three or more abnormalities in the same cell.

The complete article can be found here:

http://www.mdsbeacon.com/news/2013/1...decisions-mds/


My impression is that 46,XY,t(7;18)(q11.2;q12.2)[2]/46,XY[19] would not be considered abnormal with respect to the IPSS or IPSS-R. I would still be interested in anyone else’s thoughts on the subject.

Thanks


Data

[DanL]

I am not an expert at all on what specific translocations mean, but from what I understand, translocations are not considered normal, it just may mean that either we don't know of any prognostic significance like the mutations noted on the IPSS and IPSS-R, or they are so rare that there hasn't been any correlation to prognosis that would be statistically valid.

[Data]

Dan,
I have been reading as much as I could find on the Internet and tend to agree with you. I don't think this translocation is anywhere near as bad as deletion of another chromosome like 7. I think, like you said, it probably just doesn't happen often enough to have prognostic value.

Good luck and thanks!!

Data

[Jparker82]

Reach out to Dr. Scherer at the Children's Hops in Toronto. He was in charge of the genome project for chromosome 7. I had a rare translocation t(6;7)(q27;p12). He might be able to shed some light on your translocation. With it being more than one cell it wouldn't be considered an anomaly.

Best of luck.

[Data]

Originally Posted by Jparker82

Reach out to Dr. Scherer at the Children's Hops in Toronto. He was in charge of the genome project for chromosome 7. I had a rare translocation t(6;7)(q27;p12). He might be able to shed some light on your translocation. With it being more than one cell it wouldn't be considered an anomaly.

Best of luck.

J Parker,
I took your suggestion and looked up his e-mail address and asked him the question. I will post the answer on this forum when I get an answer.

Cheers

Data

[Data]

I got an answer to my question about the translocation (46,XY,t(7;18)(q11.2;q12.2)[2]/46,XY[19]) yesterday from my doc (a board certified hematologist and oncologist at the University of Florida - Gainesville). She said the translocation would make my cytogenetic category "Intermediate" on the IPSS and IPSS-R. That made my score a "1" on the IPSS and a "4" on the IPSS-R. My hemoglobin was 8.2 on Monday. She said she was going to put in a consult to the EPO clinic. I am hopeful that will give me some energy - I am very tired all the time.

Happy holidays to all!!!

Data

[bailie]

Data, has anyone put a label on your MDS? My label is RAEB-2. Has the stem cell transplant been mentioned yet? It was mentioned for me in my first meeting after my first BMB and diagnosis. I never had any transfusions before the SCT and felt fine right up until the transplant (now at Day +111).

[Data]

Originally Posted by bailie

Data, has anyone put a label on your MDS? My label is RAEB-2. Has the stem cell transplant been mentioned yet? It was mentioned for me in my first meeting after my first BMB and diagnosis. I never had any transfusions before the SCT and felt fine right up until the transplant (now at Day +111).

Bailie,
As far as the label, yes. It is Refractory Cytopenia with Multilineage Dysplasia (RCMD). On the stem cell transplant, we (my wife and I) talked about it briefly yesterday with the doc. The doc said they wouldn't consider it until I were worse than I am now. As of Monday my Hg was 8.2, ANC was 1.4, Platelets were 35K, and my blast count from my last biopsy was 0.5. I am 64. You RAEB-2 may have put you closer to the transplant category. Thoughts???

Data

[bailie]

You are right that I really had no choice except to immediately consider a SCT. My counts went from normal (and no symptoms) to poor counts (HGB @12.6, HCT @35.7, PLT @ 48, RBC @ 3.75, WBC @ 4.7, Neut @ 2.1 and MCH @ 33.6) in about 10 months. The downturn continued until the second round of Vidaza. The downward trend was so rapid that the discussion of a SCT was necessarily immediate. I also had a difficult match so we had to start early to get a donor.