? chromesome defects

[Gayle D]

How much info is out there concerning the chromesomes that have defects? 5q is seeming the most common with the most info but do the reseachers/Dr.s really have info concerning the prognosis of certain chromesome defects? Or am I looking for too deep an answer?

[Suzanne]

I remember reading about defects in 7 and 8. there is one that is more serious in RAEB then 5q- but I have forgotten which. (chemo brain?) My understanding is that they have tracked people enough with some of these changes to have statistical answers- ie some treatments seem to work better with those with a certian change or those with a change statistically respond more poorly. I don’t think they know why yet. To me it sounds similiar to the fact that some treatments seem to work better with people with certain genetic markers-again I don’t think they know why.

[Neil]

Found some interesting info on chromosome defects.
About half of MDS patients have chromosome defects. The defects are believed to be caused by the disease, not inherited. The number and type of defects can reveal much about the progression of the disease. Patients without chromosome defects generally do better than those who have them. The type of defects, isolated loss of Y, 5q or 20q chromosomes indicate a person will have a less severe form of the disease. Abnormalities of chromosone 7 or complex changes with 3 or more defects point to a more severe form. Those with trisomy 7 and trisomy 8 seem to have higher risk levels
Also recall reading somewhere that those with RAEB/RAEB-t having an abnormal 5 have a more serious form than those with RA and RARS.
Another question that is not clear. Does chemical exposure (benzene) damage the chromosome, thus contracting MDS or does it damage the marrow and thus a chromosome? But then does it really matter?

[KP2112]

From what I have been reading, they have determined that certain chromosomal abnormalities have been detected in MDS cases. There is quite a list as well. The impetus to locate the affected chromosome, from what I read, it to better treat the MDS. Studies are being undertaken in the hopes that is an affected chromosomal abnormality is identified, some treatments may work better than others. This is significant in that it may establish some type of link, disease + appropriate treatment = health. This would help with knowing (establishing a baseline) which drugs to try with people that have certain conditions.

Kind Regards,
Karen P.

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