Trisomy 21

[helen c.]

how does trisomy 21 affect mds ,

[Neil Cuadra]

Trisomy 21 is the second-most common trisomal abnormality in MDS patients, after Trisomy 8. Both tend to produce a less favorable prognosis.

Trisomy 21 is also commonly associated with acute nonlymphocytic leukemia (ANNL).

[helen c.]

my husband has mds and now has chrmozone 21 involvment what do i ask the dr. about this what does it mean

[Neil Cuadra]

After your husband's bone marrow biopsy, his doctors looked at his cytogenetics, which means they studied his chromosomes under a microscope. They looked at the shapes of the chromosomes (their morphology) and they also counted them. Normal cells have two of each chromosome, so it's abnormal when when cells have only one chromosome (monosomy) or cells have three chromosomes (trisomy). You asked before about trisomy 21, so I assume that is what they found in your husband's cytogenetics.

Trisomy 21 is not not one of the commonly found abnormalities in MDS patients and I don't think it indicates a better or worse prognosis. The most common abnormalities in MDS patients are at chromosomes 5, 8, and 20. You can ask the doctor if your husband's particular cytogenetics are a concern. I think the answer will be no, except that the presence of any abnormalities can further confirm the MDS diagnosis.

Since your husband has probably had a few bone marrow biopsies in the past year, I suggest asking the doctor if the chromosome results have been stable or if they have been changing over time and if this is significant in planning his treatment. My wife had chromosomal abnormalities that led to the MDS diagnosis. While the particular abnormalities didn't indicate anything further, the fact that the chromosomes were changing from one biopsy to the next indicated that the MDS was in some way "active", which we took to mean that an aggressive approach to treatment was warranted.

I should mention for completeness that a particular abnormality of chromosome 5 is especially important. It tells the doctors that the patient falls into a class of patients who (statistically) respond well to the drug Revlimid. That's not an issue for your husband unless they tell you they've identified the abnormality called 5q minus or 5q- or -5q.

[helen c.]

thank you for answering me i made a mistake when i asked about trisomy 21 after the last bmb she told us that 21 was involved i dont remember whether she said trisomy or the monsomy ( hope the spelling is right) but the said that 5q i think it is was not involved but im not sure but i do know she took a more aggresive form of treatment vidazaa every 4 to 5 weeks b/c his platlets are now unstable along with the hemogloben we see her tomorrow i will ask about the 21 thing
he did so well last year on vidaza and was transfusion independant after 2 transfusions after 4 or 5 treatments of vidaza was put on just watch and wait we were extremely pleased but when he went in Dec. his platlets had dropped and continued dropping so another bmb and thats when she told us about 21 but no other chrmosone involment and said he would stay on vidaza until it didnt work anymore. hes had platlet infusion and this week blood transfusion. i will let u know tomorrows results i know this is long but i am worried best regards helen