Deciphering BMB results – karyotype definitions

[Kenneth_In_Va]

Here is my karyotype from my last Bone Marrow Biopsy report:

44-46,XY,del(5q)(q22q33),t(2,11)(p21,q23)[cp20]

I get the del(5Q) part in that the deletion in chromosome 5 is on the lower long leg (q) between area 22 and 33. I get that there is a transformation from chromosome 2’s area 21 on the upper short arm to chromosome 11’s lower long leg at position q23. I also get the XY part cause I’m a guy.

I don’t know if the 44-46 at the start means that this mutation only occurred on 2 of the gene pairs (44 and 46)?

I have no clue what the [cp20] refers to?

Anybody got a textbook of genetics out there to help out?

[maggiemag]

Hi Kenneth. You piqued my curiosity, but I have been unable to find it as well. Just now tried to dig a little deeper, and I did find a website with a zillion links. I bet you can get your answers on one of them. Here is the link:
http://www.kumc.edu/gec/prof/cytogene.html

Also I was wondering if you had your cytogenetics from other BMB and how does this latest one compare? Did the report list how many cells they tested and what % of them have each abnormality? For instance, my second BMB lists 27% of cells tested had the 5q. How does yours compare?

Please let us know what you find out, OK?

Mags

[Zoe]

Kenneth,

I don’t know if this site has the info you need, but it has a lot of genetic info on cytogenics in oncology and hematology. It is fun to look around there. I haven’t done it for a while though.
http://atlasgeneticsoncology.org/
Zoe

[Kenneth_In_Va]

Zoe and Mags,

Thanks for the urls. No luck. All I seem to find is cp20 shown at the end of a karyotype listing but never a definition. I have asked my oncologist/hematologist 2 times and he promises to ask the pathologist. Maybe he’ll remember when I see him next month for my 2nd BMB.

Mags,

I will have my 2nd BMB the 3rd of May so will then have comparison numbers. The initial BMB did not list the # of cell and the %. But I think it did say all showed the same results.

Thanks again,

Gene In Virginia

[maggiemag]

Gene, that has to be it then, that all the cells show the same thing! I bet it stands for complete profile or something like that. On my reports, they both say that number of cells counted was 46, and total number analyzed was 20. After my del(5)(q13q33) there is a bracket with a 13 followed by 46,xx bracket 7. In the summary it says that of the cells analyzed 13 of the 20 showed the 5q deletion and 7 were normal karyotype. So my whole karyotype is:

46,xx,del(5)(q13q33){13}/46,xx{7}

Mags

[Kenneth_In_Va]

Mags,

You’re a genius!

So you have the textbook 5q syndrome. I have the trans-location from 2 to 11 as well. Due you have any reference to fibrosis inn your chart like I do?

Gene In Virginia

[maggiemag]

Thanks, Gene! (taking a very small bow….)

It does appear that I have the 5q- syndrome. No other chromosome abnormalities on either BMB. I do have mild myelofibrosis reported on both of my BMB. My heme/onc isn’t sure of the significance yet, but says I do not have primary myelofibrosis. I have had macrocytic anemia for a couple of years. My Hb in Feb. was 10.2, which is my lowest so far. I go on a growth factor at 10.0 and she will transfuse at 8.5 since I already have CHF. Btw, I just turned 62 as well (gasping)! I am an RN.

Keep us posted!

Mags

[Kenneth_In_Va]

Mag,

Our ailments are nearly identical. Except for the extra t(2,11) in my karyotype. I just turned 63 last month but haven’t updated my profile. (Guess I will do that tonight.

Interestingly enough, My wife is an NP and my mother was an RN for 50 years.

Has your heme/oncologist mentioned Revlimid/lenolidimide as a next step for you?

Gene In Va

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