questions about mutated / unmutated

[BlueGillfisherman]

Good morning all, was wondering if anyone had a simple explanation about 13q and mutated versus unmutated. I am 13q deleted and mutated.

thanks and have a wonderful day

james

[Kwenda]

If 13q is the ONLY negative FISH result, then that is a GOOD indicator.

Mutated is better and also a good sign. ( Unmutated not as good )

This can never be 100%, but your indications are both excellent.

Dick

[BlueGillfisherman in reply to Kwenda]

Thanks Dick

james

[Newdawn Administrator]

Hi James,

First of all you hit the jackpot with your biomarkers because mutated and 13q deleted is in the words of Dr. Cheya Venkat;

‘The least dangerous of the lot is the deletion on the long arm of the 13th chromosome (13q). It is also the most common chromosomal defect, perhaps that is what makes CLL a “good cancer”.

This long, illustrative and often humourous article from Cheya is rather dated now so don’t get too hung up on survival predictions. However, the explanation of mutated v unmutated IgVH is excellent and in a form many will find easier to understand (including me). Hope it helps.

updates.clltopics.org/3256-...

Newdawn

[BlueGillfisherman in reply to Newdawn]

thanks for your help

[annmcgowan in reply to Newdawn]

Hi Newdawn thanks for the info on prognostics very good reading.

Ann

[lankisterguy Volunteer]

Here is a useful guide from the CLL Society

cllsociety.org/2017/09/prog...

Len

[MsLockYourPosts Passed Volunteer]

Chaya's article, Three Important Blood Tests, gives the best explanation of mutated vs unmutated, in understandable language, that I have found. As Newdawn has said, the information about treatments and prognostic indicators is dated (great news for us!), but her basic explanations are very helpful.

[Hidden]

13Q means some of the base pairs are deleted...gone, missing, bye bye, and thus genes on your 13Q Chromosome (Q means long arm, p is short arm). The actual size of the deletion varies from small 50Kb to 3MB or something like that...

Mutated means your IGHV gene/immunoglobin shows mutation...I am pretty sure the mutated status refers a heavy chain molecule but I could be wrong on that and might refer to the gene(s??) themselves.....but in other words our IGHV protiens, which also attach to various blood cells is now different than it was before someone hit the Delete button on your DNA.

Mutated status is determined from a Flow Cytomerty test usually....this does not actually test the status but looks for expression of CD38 and ZAP70 which if negative indicated a mutated status....it is used as a proxy for status and is about 80% accurate +/-

Scott

[lankisterguy Volunteer in reply to Hidden]

Hi Scott,

I think you may want to edit your last paragraph above, after reading this:

mayomedicallaboratories.com...

"Although the determination of mutation status can be accomplished by PCR followed by Sanger sequencing, this approach only allows for analysis of single samples at a time. Next-generation sequencing (NGS) technology (eg, using the Illumina MiSeq platform) represents a significant improvement over existing Sanger assays by allowing for batch sample analysis and simultaneous identification of clonal IGH rearrangement, the tumor-specific rearrangement sequence, and determination of somatic mutation percent."

Your comments about the lack of accuracy CD 38 and ZAP 70 is correct, but the current methods in the USA use more modern tests like Sanger or NGS, which is much more accurate.

Len

[Hidden in reply to lankisterguy]

Thank you. I will go read about it. I only had the flow cytometry, last year...no other test to check or verify mutated status.

[lankisterguy Volunteer in reply to Hidden]

No problem Scott, I didn't know the difference for the first 4 years after my 2008 diagnosis. My first two Hematologists could not explain the significance of my being Zap-70 negative and CD-38 positive.

-

When I went to see a CLL expert at Stanford in 2011, he surprised me when he said that Stanford already had tested my blood in 2008 when my first Hem/Onc sent it in. Stanford had reported me as UnMutated but my first two doctors did not know how to interpret or utilize the three different test results.

-

In 2012 Dr. Furman got my agreement to send extra tubes to a new start up company called CGI.

cancergenetics.com/about-cg...

They were developing this

cancergenetics.com/laborato...

sy8kqhbibn-flywheel.netdna-...

Most community doctors & some Hem/Oncs would be overwhelmed by the blood test choices on the menu above. They would need to quickly study online to know how to order the tests.

Len

[GMa27]

I am 13q mutated. Good markers. Was on W&W 12 years. Just started FCR last month. Doing great. Blood work great and nodes just about gone!

[Joelcarver]

Hey Jim... I’ve quoted my wife a few times since joining CLL support group in June of this year. I had a CLL prognostic panel done about 6 mos ago. I remember Donna trying to explain mutated vs unmutated, 13q 17pqrstuvwxy and z. And then she asked me, “ Joel, would you live your life any differently if you knew you were mutated or unmutated?” My answer was a big fat NO! We never discussed it again. To be honest, I don’t want to know. I think I understand that your prognosis might be better if you’re mutated. And if you’re not??? I would hope you’re not planning your funeral or pondering your poorer prognosis. I know there are many here who have a need to research and know all there is about CLL and that’s fine. My wife is a lot like most of you here. Me? Unless there’s something I can do to change my bio markers, chromosomes, long or short arms.... I’ll continue to live my life the best way I can because the sad truth is; our next breath isn’t guaranteed for ANY of us here.

I hope to spend the remainder of my life helping others, carving, fishing, boating, and worrying less.

Wishing you, James and all my mutated and unmutated friends the very best.

Joel

[BlueGillfisherman in reply to Joelcarver]

Thanks joel , wish we were close and we could go fishing together.

james

[grammywithcll]

Wasn't able to open the link explaining the difference between mutated vs. unmutated cells. Would appreciate having it sent again or any information on that topic. Just learned that I am unmutated with a new CLL diagnosis.

Thank you, GrammywithCLL

[AussieNeil Administrator in reply to grammywithcll]

Try these: cllsociety.org/2017/09/prog...

Dr Jeff Sharman

cll-nhl.com/2014/04/mutated...

Quite old, but very readable explanation by Chaya Venkat. Sadly now only available on the Internet Archive, colloquially known as the Way-back Machine

web.archive.org/web/2007072...

Neil