I’ve been told by my CLL specialist that the IGHV test only has established reliability with peripheral blood samples. Given that I have SLL and my peripheral blood is all in the normal range, the test can’t yield a reliable result. Therefore we’re going to assume I’m unmutated. Can anyone respond to this please?
Thanks
Heather 🇨🇦
I would have thought any tissue sample containing CLL cells would suffice, which in your case would be from the original node biopsy, or the bone marrow biopsy (probably too late), or even possibly eventually in your peripheral blood. Jm954 may be able to add more.
Neil
thanks Neil. I believe I'll be able to get it done eventually when the bad lymphocytes hit my peripheral blood with treatment. I asked about the BMB and he didn't seem to think it was really necessary and that it was fair to assume I'm unmutated. He would like to start me on BR (Ibrutinib is not an option for me in British Columbia) as he thought this was a good default place to start. Given that my only options are FCR and BR, I'm thinking I'm ok with this.
Heather (BC Canada)
Hi Heather, it is true that tests have to be standardised with all the different samples types and there have to be enough of those samples to be able to set reliable parameters.
There are also lots of different 'contaminating' cells in a bone marrow that could affect the testing so your Dr is probably correct.
What reasons did he give for offering BR or was it your choice of not FCR?
Jackie
Thanks Jackie. That helps. I had mentioned that I was not keen on FCR if I was unmutated as it seemed to me the PFS and OS are significantly lower than if one is mutated.
My sense is that with things changing so rapidly in the area of treatment, I’d rather have the less toxic BR then move to the novel agents etc if I need treatment again. By then British Columbia may have caught up.
No final decision has been made yet. I’m open to further considerations re fcr.
Heather 🇨🇦
To keep the toxicity down does make sense Heather and you should still get a good response to Ibruitinb when you need it.
All the best
Jackie
Hello Jemorgen
I did the B+R, finished in first week of April. Overall went very well had a few reactions and for the most part those have disappeared. I was un-mutated and retested after treatment, but lab could not find CLL cell to check in my sample. My DNA markers changed from 13q deleted to 13q normal. I feel great, and my plan is to do inhibitor drugs if and when I need another treatment. Being in the US, I could have chosen ibrutinib. Blessings.
CLL specialists in BC can make special requests for patient to be given ibrutinib, if there is some grounds (apart from the grounds that now qualify). This is how I got ibrutinib in BC. Your "grounds" for the request could be that this recent study described in this article (targetedonc.com/case-based-... which shows that Ibrutinib better for PFS than BR. (Too many acronyms! haha!) And the patients who benefited most from Ibrutinib were the unmutated IGHV.
It's only a matter of time until BC adopts Ibrutinib as first line for unmutated IGHV (and probably first line for everyone) . So now that the science is there supporting that choice in your case, I think your CLL specialist has all the grounds he/she needs to make a special request... if you want the ibrutinib, that is.
Good luck Heather!
kim 
Thanks Kim. I did ask and he said I was too young. Sigh - that should be a good thing lol.
good thing usually...
My husband was SLL at diagnosis and the same lymph node they removed to diagnose him was also sent off for IGHV testing to find out he was mutated. They tried blood first and it was not a sufficient sample.
That’s interesting. They’re not keen on taking out nodes here (Vancouver Island) especially any around the neck or clavicles. It’s all a little frustrating but when I step back from it I am comfortable with the the decision. In time, particularly with treatment, I imagine my peripheral blood will be affected and they can do the test. Who knows? Maybe by the time I need treatment next time they won’t need to know IGHV.
We did not really have a choice. Nodes were growing for years and they did a biopsy of one in his neck first and it was inconclusive, nothing in blood work. Another year later and nodes even bigger and they took his largest neck one out for diagnosis. It was super minor outpatient procedure and was worth it for all the info we got from it (FLOW, FISH, IGHV).
Jemorgen,
Respectfully, I would question the terminology "established reliability" and "reliable result". What exactly does that mean?
It would be logical for them to explain the regulatory guidelines used for IGHV testing, and cite the success rate for the laboratory that will be providing the test. Improper handling would be more a reliability factor without question.
Sanger and NGS are two methods used for IGHV testing and either have proven reliability with peripheral or aspirate samples.
The reliability aspect would be more affected by the sampling, handling, and processing. The strict regulatory requirements for achieving approval for regulated medical procedures speak a great deal unto itself.
Not because of the test reliability, but rather because of your disease specifics at this time, It seems logical to not order an unpleasant procedure that is costly.
JM
Thanks for the clarification JM. In fairness to my onc, he called at 8:45 pm and caught me off guard. I’m also not the best at remembering details spoken - more the gist. (This is why I always take someone to my appointments to write everything down - an option I didn’t have that night on the phone).
As I understand your post, you are more concerned with the explanation of why we’re not doing the test. Am I correct? I appreciate your final comment as it affirms my position.
Heather 🇨🇦
I am SLL presentation. Lymphocyte count never above 5k but they were able to find enough clonal cells in my blood to complete IGHV. I was concerned that the test wouldn’t work but it did and they were able identify the gene family and percentage mutation. My blood morphology showed many abnormal lymphocytes. Is crazy how this disease presents so differently between people.
I agree Mako. It’s crazy. They were able to find enough cells in my peripheral blood to do the FISH test after the pathologist arbitrarily decided not to do the test on my BMB. I think I’m still ok with the doing the BR instead of the FCR. If getting my IGHV status gave me the possibility of ibrutinib, I would push the matter. Unfortunately there doesn’t seem to be any way for me to access any novel agents without having BR or FCR first.
Blood test results
CLL and Peripheral Neuropathy 
Blood test or Not?
