CLL, Trisomy12, unmutated, NOTCH1 - NOT SURE W... - CLL Support

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CLL, Trisomy12, unmutated, NOTCH1 - NOT SURE WHERE TO GO - WHAT TO DO

misterbee profile image

I was diagnosed with CLL 12 years ago. WBC' s have been rising year after year, I am finally to the point where doubling time is 6 mo - time to treat. I visited MDA for a workup. I am Trisomy12, unmutated, NOTCH1 positive, which is not a good prognosis, although the report said "mutation was present at a much lower mutant allele percentage (<3%) compared to percentage of cll/sll cells (87%)". Not sure what this means?? My MDA doc told me 'no chemo', treat with Ibrutinub. I was hoping my local Onc would agree with the expert and start me on Ibrutinub - but no. He wants to speak with me "face to face" before treatment. He does not like Ibrutinub - claims it has lots of nasty side effects. I'm thinking he'll want to start me on BR instead. So here I am, waiting to start treatment and I'm not sure what to do. I should mention that my local Onc didn't know the significance of NOTCH1 positive. I read that Rituxamab is ineffective for those with NOTCH1 positive. Any suggestions would be greatly appreciated. There are very few, if any, onc's available where I live.

39 Replies

Don’t have much info to share, but the very reason why so many on here insist on getting a CLL specialist is because they know so much more about the therapies like Ibrutinib. I’d trust your MDA doc!!!!

DaleFL profile image
DaleFL in reply to baq724

I agree.

I’m Trisomy 12, SLL/CLL, and doing great on Ibrutinib since January 2017. I haven’t had any of the nasty side effects, but everyone is different. My nodes shrunk to normal within two weeks. I just had labs done a couple of weeks ago and all were within normal range. I had BR before Ibrutinib was FDA approved and had a bad reaction after the first dose and couldn’t continue. I would be firm that you plan on continuing with the MDA CLL specialist and if he objected I would be out the door. It’s your life, so fight for it. If he is intimidated by your CLL expert, find someone who will work with your specialist. Keep us informed on your progress. Best of luck. Sally


I'm Trisomy 12 and unmutated. My doc has recommended BR or Ibrutinib or Gazvya. I have heart valve issues and palpitations. I think Ibrutinib would work for me but feel it's not a good choice because of the cardiac issues so am thinking BR. Do you have or did you have enlarged lymph nodes in your abdomen/neck? I look like I'm 3 months pregnant and I have a large scared and don't know what to choose...

Best regards, Dianne

Is your doctor a CLL specialist? Because of the heart valve issues I would look for a specialist for answers.

I had enlarged nodes everywhere. I wore scarves fashionably wrapped around my neck as to camaflouge them. The ones under my arm pits were like golf balls and tender. I gave up on wearing a bra. And, because of a swollen spleen and swollen lymph nodes in the abdomen, only elastic waistbands were comfortable. I looked and felt miserable. Even worse than the way I looked, I was so fatigued.

I have been so fortunate not to have had any negative side effects. I’ve had FR, BR, and now IB. Ibrutinib has really given me a life again. Whatever your choice, I’m sure it will be the right one for you. Prayers, Sally

misterbee profile image
misterbee in reply to Ladydi49

I have a few palpable nodes, but nothing visible.

Thanks Sally! In Las Vegas it's hard to find a doc I can trust.

Surely someone on this forum knows of a good doctor in Las Vegas for you. Let’s ask and see. Sally

The guy I use is on Dr Sharman's "CLL DOCS" list. He knows quite a bit, but treats different types of blood cancers. You can't be an expert at everything. I'll probably ask him if I can try Ibruntinib first. If he's not open to that, then I need to find someone else. I asked the facebook CLL group for a Las Vegas CLL doc - no one responded - yikes. Las Vegas is not exactly known for it's doctors or hospitals.

Don’t ask him if you can try Ibrutinib, tell him you are going to go with Ibrutinib since your MDA consult and you would like him on board with you. Just give him the reasons for your decisions and he might understand that you are making your decision based on knowledge. I know it’s Las Vegas, but tell him you don’t gamble with your life. Good luck. Sally


Las Vegas does have great shows, lovely hotels and fantastic food.

Thanks, Sally. I already sent him a text stating that my MDA doc him said it's the only choice - specifically no chemo. I later called for an appointment and was told that I was scheduled for chemo! Not sure if there was a mixup, but it's scary nevertheless.

Las Vegas is great for entertainment - but don't get sick here!

A friend of mine in Illinois had the same thing happen to him. When he showed up at his doctor’s they were all set for chemo. He had told the doctor he was adamant he wasn’t doing chemotherapy and the next visit the nurses were ready to give him his chemotherapy. After the initial shock he walked out and found someone else. He had few doctors to choose from also. It’s not easy.

Did he reply to your text? You might need to send another one if there is no reply. Good luck with this sticky situation. Keep me updated on what you find out? And yes, I’ll make sure to stay healthy on my next visit to Las Vegas. 😉 Sally

He did reply and told me to schedule a visit - which I did - for 5/28. After sending the text, his nurse and I spoke about ordering Ibrutinib, but the Dr later told her to wait. They had me scheduled for chemo on the 26th???. My doc is spooked about his patient, on Ibrutinub, spiking a WBC of 1,000,000 - yes that's right. He's also afraid of afib. Coincidentally, he's sponsoring a BGB-3111 CT - basically Ibrutinib with less (known) side effects. I'd do the CT, but I may randomly receive BR, in which case I'd tap out. I don't want to play games - just start with treatment.

Wow, that is darn scary. My specialist sees plenty of patients on Ibrutinib and has seen such positive results. Does he have too few patients on Ibrutinib to compare? I would never take a Tylenol if I believed I would get every side effect. All I can say is to trust your gut instinct about this situation. Will your specialist at MDA write your prescription? It comes from a specialty pharmacy and you can have it mailed directly to you. I personally would keep looking for another oncologist. Anyone in Henderson, NV? Best of luck. So frustrating. Sally

I would work backwards from MDA and ask them who your nearest more local doctor is who they could work with. If that isn't an option I would have the face to face appointment, but work with MDA if your local doctor won't budge.

Thats what I'm thinking too. I could travel to MDA and get started on Ibrutinib, but I need a follow-up guy here in Las Vegas "just in case". Thanks for your response.

Hi there, I'm trisomy too and nearing treatment now. My doc says FCR is the way to go and anything else is second line treatment.

So now I feel unsure that she's right although everything I've read says she is.

seoul profile image
seoul in reply to yoniboi

I am unmutated and trisomy 12 cd38 neg. I got fcr in 10/13 upto 4/14. mrd neg!! Since then, all in best shape!!! No side effects, nothing. Everthing has re developt six months after treatment.

yoniboi profile image
yoniboi in reply to seoul

Sounds fantastic. Thanks

misterbee profile image
misterbee in reply to seoul

Thanks for your response. Most docs like to use targeted therapy now. Plus I have other markers.

MsLockYourPosts profile image
MsLockYourPostsVolunteer in reply to yoniboi

Your options can depend on where you live. In Spain they may not use newer agents as first line. Have you had a FISH test or is that not done there?

Yes. I had the FISH test at the end of last year and that's how I know I'm trisomy. All the other (cd38 etc) I have no idea.

My last bloods showed a doubling from 33 to 67 in three months, but I'd had recurring chest infections, so she told me to have a spleen ultrasound and fresh bloods two months later (that's next month) and we'll see where to go from there.

MsLockYourPosts profile image
MsLockYourPostsVolunteer in reply to yoniboi

CD38, etc would be on a Flow Cytometry Test. It is the test they would have used to confirm your diagnosis. A third test is mutational status. It is separate from the FLOW and the FISH and is not done everywhere.

You might want to start your own thread with a new post asking if anyone is familiar with the rules for first line treatment in Spain for Trisomy 12. If you restrict it to community only (option at the bottom of your post) you have a chance of getting more and more complete answers.

Again, one issue may be that in Spain newer agents are not offered first line. You could ask about clinical trials there if that is the case. It is often the best way to get newer treatments.

Hi I am on Ibrutinib and rituximab on the Flair trial. I have had very few and only minor side effects so far. Hope this helps you do need a specialist who understands all of the different treatments available for CLL and what would best suit you.

Good luck keep us informed


No flair trial in Spain I'm afraid

I have the same markers as you do. I started o Ibrutinib almost 2 years ago. Only minor side effects. I'm really surprised at your doctor's reaction. Chemoimmunotherapy in not recommended for IGVH unmutated. You were at MD Anderson?

Where do you live? Second opinion time!


misterbee profile image
misterbee in reply to virdieblue

I think you misunderstood. MDA wants me on Ibrutinib, while my local doc (in Las Vegas) wants to use chemo.

kimiD profile image
kimiD in reply to misterbee

Misterbee- I am also unmutated, Trisomy 12. Have you looked into UC Irvine, in Orange County CA? It is much closer to Vegas than Houston, and Dr. Susan O'Brien is an excellent CLL specialist, who used to work at MDA. I lived in Michigan when I was diagnosed in 2010 and travelled to MDA for a second opinion. Dr. O'Brien was able to recommend someone in my state who was also very well versed in CLL, so I only saw her when I was in Texas to visit family.

The good thing about ibrutinib is that if you have any problems you can stop taking it and go another route. Sure, I've suffered with side effects, but nothing I had to rush to see my MDA doctor for. If you experience heart issues while taking it, they'd probably recommend you go off and try another treatment. Chemo is not usually recommended for those of us who are unmutated. If you decide to stick with your local oncologist, find out how many patients he/she treats with CLL, how many have been on ibrutinib, and whether he attends the CLL conferences on a regular basis.


misterbee profile image
misterbee in reply to kimiD

Thank you for the advice! You're right, CA is very close. I've heard of Dr. O'Brien before. I believe I saw her "Living well". Dr. Burger (MDA) informed me to stay away from chemo for unmutated.

virdieblue profile image
virdieblue in reply to misterbee

You're right I did misunderstand. Listen to MDA

Also on ibrutinib for almost 2 years and doing great (after obin/venetoclax/ibrutinib trial). In my case, I went to the best doctor I could get my hands on (Byrd at OSU) and his advice also contradicted my local CLL specialist.

TimHB profile image
TimHB in reply to thompsonellen

I saw Byrd @ OSU too and he completely reversed and overruled my hemo-onc in L.A. Saved my life!! He's great.

I basically did the same. I saw Dr Burger at MDA. Did you get your local guy to treat you per Dr. Byrd's recommendation or did you have to change doctors? Can a doctor out-in-out refuse to treat a patient even if the 'standard of care' is recommended? Perhaps we have clashing of ego's. Unfortunately my local guy treats all kinds of blood cancers and Lymphomas. There's no way he can 'dial in' on the prognostic markers for my specific type of CLL, as Dr Burger did.

I did a clinical trial not available at Penn where my doc was - penn doc didn’t react well to this and didn’t actually do an exam after that. My risk profile was higher than his. He was adamant that ibrutinib only was the way to go. I’m 17p deleted and young and I’m glad I didn’t listen.

Hidden profile image

I live 2000 miles from MD Anderson and would give my left or right one to be able to go there. EVERYTHING cutting edge comes right from MDA. As well, I am regular old 13Q and stuck with FCR at some point...I would love to be able to get Ibrutnib as first line. Just my 2 cents worth without any experience....just my personal opinion.

Scott USA/Maine

Trust the MDA doctors. All drugs have side effects!

BeckyL USA

lankisterguy profile image

Hi Misterbee,

I agree with most of the other comments. I am also Tri 12 UnMutated but no Notch 1.

With the Notch 1 you are at higher risk of Richters, and if your local oncologist does not know the significance, then you need to avoid following his treatment suggestions, and follow the MDAnderson experts. If needed find a new local onc that knows how to work alongside the MDA team.

My first treatment was with a lazy uninformed Hem/Onc and it was only luck that kept her from doing real damage to my body (she gave me Rituxan using a procedure for Follicular Lymphoma- it only lasted 6 months and I needed a second round of treatment).

IMO - the key is choosing the least worst option for treatment each time. Being UnMutated means you may respond to any treatment but the remission may be short. So be prepared to get treated often, with many different drugs. But that is only a guess and you may have a different experience than me.

I've had Idelalisib, Ibrutinib and Venetoclax. Ibrutinib gave me a skin rash, but as soon as I stopped the drug the rash went away. Most of the side effects from the new targeted therapies will do the same. Richter's will not go away, shingles will not go away, and some doctors suspect that Chemo has potential to do permanent damage to your bone marrow and that won't go away.

All of these possibilities are small risks, but IMO- try Ibrutinib and if you get a side effect that is too serious to bear- your marrow is safe and you can switch to Idelalisib or Venetoclax- if you do FCR or BR, it may not be as easy.


Thanks for your response!

I'm no doc but all I can say is to get as many opinions as possible. My hemo-onc said I was Stage 0 "probably" mutated and we'd W&W. Then I went to 3 CLL specialists in Columbus, Boston & San Diego and found I was Stage 3 UNmutated and would be dead in 3 years without immediate treatment. My hemo-onc was about to start me on BR but then I got into a clinical trial with Gazyva & ibrutinib. 2 weeks into it and I'm doing great, NO bad side effects. Moral of the story is to see as many SPECIALISTS as you can. Get on a plane if necessary. This is your life you're dealing with.

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