CLL Support Association
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11q, 17p deletion and Trisomy 12

Hi all..went to my Hematologist yesterday. Red cells holding. Found out I'm not 11q or 17p deletion but am Trisomy 12 and unmutated. Looked up Trisomy 12 and it made me a little nervous. Also, doctor said better to be mutated than unmutated. I told her I'm CD38 positive and zap-70 positive. She said not to worry. Diagnosed 11 years ago and still no treatment other than 3 more monthly ivig's to boost immunity. Any comments would be appreciated...Best regards, Dianne

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Hi Dianne,

I don't have much of a reply other than to say that I, too, am Trisomy12 and unmutated and will be starting therapy shortly. Awesome that you have gone 11 years without treatment (other than IVIG) I hope that you go another 11 and more!

Best,

Fell

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Thanks Fell...Wishing you all the best. It is scary having this disease

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Sure would like to know her thinking on its better to be mutated than not. Hubby has an appointment with his doctor in a week or two and I always like to surprise him with some info.

I am so glad to hear how well you have been doing!

Linda (spacee)

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Being unmutated is generally a poorer prognostic marker Spacee.

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In terms of starting treatment or longevity

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Sometimes both. ☹️

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You'll probably get much better answers (and plenty of technical explanations if you feel like Googling) but, basically, if you're CLL cells are IGHV mutated, that means that the initial bad lymphocyte was one that was matured to focus on a specific antigen (like a specific bacteria type). If unmutated, they can respond to any antigen (with a bit of help from T cells). Unmutated cells proliferate more easily and aren't wiped out as well with chemo. If unmutated, you'll probably need treatment earlier (Ladydi49 looks like one of the good exceptions!).

The Dr is certainly right that those of us with unmutated cells have a worse prognosis. This isn't as big a deal now though as treatments like Ibrutinib work as well for both IGHV types.

Graham

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So good to hear Graham

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Thanks for that explanation Graham, I wondered about that myself.

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Thank you so much Linda....hope all goes well with your hubby

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Well, I will just ask about Trisomy 12 and IGHV since that has not been mentioned.

Thanks for input All!

Linda

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Linda...let us know what your doctor says about Trisomy 12 and being unmutated. My first hemotologist must have known that I am Trisomy 12 and unmutated and CD 38 and ZAP -70 positive from my flow cytometry results in '07 but I wasn't told about the Trisomy 12 and unmutated status at that time. He told me to live my life and try not to worry and that I'll probably die from something else. I found out about the Trisomy 12 and unmutated status 2 days ago at my hematologist office in Tampa, FL .....Best Regards, Dianne

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I will Dianne. I need to write myself a note. I have a twin who continually posts political stuff on Facebook that upsets me. Then she wants to talk to me every night because she has no friends where she lives. Got to start making notes to ask the doctor!!

Linda

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Ugh....I too see political stuff on FB and hate. I'm on primarily to keep up with goings on with my 3 adult children and sisters etc up north

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"He told me to live my life and try not to worry and that I'll probably die from something else"

Mine said the same thing. I am finding out that something else is an infection because of CLL.

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Yes we probably will die from infections which they say "so and so died from complications relating to leukemia

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I'm also Trisomy 12 UnMutated, but have been treated 4 times since 2008. You seem to be on the fortunate side of the bell curve and I am on the aggressive side. The difference may demonstrate that just knowing the mutations does not tell much about how the disease progresses.

I have noticed that when I start treatment, I get very fast response, and quickly reach normal blood levels. But soon after stopping treatment the CLL comes roaring back faster each time.

So you may be really lucky despite the UnMutated marker.

Len

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Hi Len...sorry to hear the cll came back after treatment. I asked my hematologist in Tampa, FL if I were to ever start treatment and after awhile my labs are normal and nodes have shrunk could I have a drug free holiday or would I have to take medication for the rest of my life and he indicated that I would have to continue taking medication. He also said there are new weapons in the arsenal coming down the road for this disease. I told him my cousin has middle stage metastatic breast cancer and is getting chemo and, my question to him was that worse than cll and he said yes. The difference is that once she is done with treatment and is cancer free she could go years before it comes back if it indeed comes back whereas some of us with cll may have to take medication for the rest of our lives.

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It depends on the treatment you get whether you can have a break from medication after treatment. Being unmutated, FCR chemo isn't likely to be your best choice but this is one that you just take for a short while (you have this for around 6 cycles then stop). Ibrutinib, you continue to take for life at this stage but there are questions about whether it can be stopped for some people if they attain MRD- status, probably after 5 or more years.

I'm on a trial of Ibrutinib + Venetoclax that has the aim of seeing if participants who attain MRD- status after 15 months can stop treatment and either be cured or be able to just take the drugs again every few years or more if/when the CLL flairs back up.

There's some other treatments being investigated, like CAR-T or CAR-NK that aim to be a one-off treatment. In 5 or 10 years, there'll probably be a treatment available for most of us that can cure us. Whether we can afford or access it could be an issue though ...

Personally, if I had to take something like Ibrutinib every day for the rest of my life (or until something better came along), I'd be OK with that. I have to do plenty of other things every day as part of life and that isn't a big deal unless the drug disagrees with you.

Graham

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Sorry I can't add to your knowledge. I was just diagnosed March 14, 2018. What's IVIG?

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Intavenous immunoglobulin. IV... Ig

Its a blood product, basically blood plasma, mostly antibodies, ...taken from the blood of up to 10,000 people, it is pooled together, processed to kill pathogens and then used to prop up the immune system in a number of diseases including CLL.

The product is in very limited supply and much of it is sourced now around the world, some is donated some is paid for, particularly in developing countries.

There are criteria for use in CLL that varies a bit from country to country and in the U.S. from insurer to insurer.

Generally in CLL infusions are monthly. Its being replaced by a subcutaneous version, of weekly under the skin, self administered type treatments done you the patient at home.

Here is a good overview.. you must join to read it, it is free to do so, and certainly worth the effort, Medscape has a lot of valuable CLL information...

emedicine.medscape.com/arti...

~chris

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