What does normal Chromosomes mean?
 

I just learned "good news" in that my chromosomes are normal. However, all I could summize from a short telephone conversation is that this bodes well for long term prognosis. After I had put the phone down, I wondered what exactly that means? Will I live longer? Healthier? Does it mean I am at low risk of developing AML? My Hematologist has now referred me to the MDS Specialist at our large teaching hospital (the same unit she works at) as she wants a second opinion. It seems that while a BMB confirmed MDS, my symptoms don't fit the diagnosis. My white cells are within range and until now my platelets were normal. Now they have risen to 429. I'm new to all this and in some ways anxious to know more and in others, frightened to know more. Your thoughts are always welcomed and if you live in Vancouver, perhaps we could meet for coffee.

Normal chromosomes simply means that you don't have any notable damage to your chromosomes. MDS patients have a high rate of chromosomal abnormalities such as monosomy 7, del 5q, trisomy 8, and others. The relevance is that the damage to certain chromosomes may foretell how aggressive your disease course is. Normal cytogenetics is a lower risk factor than say a monosomy 7. Multiple cytogenetic anomalies tend to suggest a more advanced disease.

I hope this answers your question.

Rauld
 

Dan, do you know the difference with prognosis with MDS trisomy 8? I am being treated with 'supportive' care for now just wondering if I need a second opinion.
RAULD is what the BMB said but there wasn't enough to test for the blasts. New to this. Thx

BMB
 

Hi Jen,
I am afraid that I don't know what RAULD means.

As far as I understand the prognosis with trisomy 8 can be the same as if you don't have any chromosome aberrations. http://www.mdsbeacon.com/tag/trisomy-8/
Kind regards
Birgitta-A
Del12p (a good aberration) and X- (an intermediate aberration)

It is my understanding that trisomy 8 means that there is an autoimmune component to your disease which may make you a candidate for IST.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895154/

Don't be afraid to ask your doctor to interpret RAULD. Also, I'm always in favor of second opinions :)

There is a lot of conflicting literature on the web about trisomy 8 MDS. If it is a sole trisomy 8, then the prognosis is more or less neutral, meaning that it could be an aggressive disease or it could be indolent. I believe that one of the problems with these studies is the inconsistency of reporting and grouping of abnormalities. When trisomy 8 is added in with one or more additional chromosomal abnormalities, it may present a worse clinical outcome.

As Hopeful noted, there are studies done by the NIH that show that trisomy 8may have a strong correlation to auto-immune disorders, so many patients respond quite well to IST such as ATG + cyclosprine and Campath. There are a couple of other factors that may favor use of immune suppression, such as age, length of time since diagnosis, and the presensce of HLA DR15. Another note is that Trisomy 8 also has a high rate of response to Vidaza.

I was diagnosed with trisomy 8 MDS in July 2010 and have not received any supportive care as my RBC, WBC, and Platelets have all been stable, though my platelets teeter around that 20k number. I bruise like nobody's business, but have been fortunate thus far that the platelets I have work well enough.

As for the second opinion, like many others on the forum, I strongly suggest that you reach out to one of the MDS centers of excellence for a second opinion as they may have a different perspective on when to treat and what to treat with, or they may affirm your doctor's current course of action. Either way, it may provide you with more confidence as to which direction is right for you.

I have held appointments with UCLA and the City of Hope in addition to two different hematologists in Denver. For my local hematologist I chose the one who was most closely aligned with the recommendations of the aforementioned institutions.

Sorry for the long response. I think the short answer to your question is that there is good reason that the IPSS and other scoring systems generally list Trisomy 8 as having an intermediate prognosis, but an argument can be made based on your specfic circumstances that it is either more toward the favorable or unfavorable, it just averages out to middle.

Also, I would have to say that the RAULD is normally referred to as RA with Unilineage Dysplasia, meaning that only one cell line has notable dysplasia in 10% or more of the cells. In this case, probably the red blood cells.

Thank you for your replies everybody. I am still learning what all the abbreviations mean and how those impact the future, but I am so grateful for your input. :)

Thank you Dan. This was very helpful.