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Monosomy 7

Hello all,

After a struggle to get on top of my CML due to Imatinib failure, then extremely suppressed blood counts on Nilotinib things looked to finally be getting a bit better. I had my first BM biopsy on the request of a new consultant and my BCR/ABL had finally reduced to 1% with low but acceptable blood counts. 

Then I was hit by the bad news that not only do I have the Philadelphia chromosome (9:22) but I also have another chromosome clonal abnormality known as Monosomy 7. Out of ten cells cultivated, two were PH+, three were normal and five had this new issue with chromosome 7. This is potentially very serious and could well lead to MDS and AML. On the face of it, it seems as though they are two separate issues although I don’t believe that can be the case. There’s just too much coincidence for that. Does anyone else have experience, or have you heard about, anything to do with this in conjunction with CML? I’ve been told it’s 50/50 to whether the 7 abnormality progresses further and if it does the only option is a stem cell transplant. I’ve already met the transplant team and my sister is being tested to see if she’s a match. The odds don’t look good if it progresses so any info is welcome. Oh, and the only way of monitoring the situation is regular BMB’s 😩

Thank you in advance.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771850/

I thought you would find this article interesting. Of course everybody is different but keep your head up.

Thanks for that link, interesting reading. There is at least some hope there.

It’s just a bit tough at the moment as it’s been so difficult getting the CML under control with infections, low blood counts, treatment breaks etc. that when finally getting there after nearly a year, there’s another body blow of having something else which is potentially even more serious. The article confirms my thoughts that the two are linked, just very very rare.

I’m single, unable to work due to medical restrictions, and live alone so there is a lot of time sat with my own thoughts. I’m determined to keep myself as fit as possible so drag myself to the gym consistently even when I don’t feel like it. I really believe a positive attitude is crucial but I do get the odd down days which are tough. Whether it’s CML, AML, MDS i’ll keep on fighting 💪🏻 there’s too much to live for! 😬 Looking forward to seeing if my sister is a stem cell match as that would be at least one problem sorted in advance. 

After I was diagnosed and my PCR fell to around 1%, monosomy 7 and trisomy 8 showed up. I was concerned about the monosomy 7, but was told it can come and go and often disappears in CML patients. It was still something I had to watch and led to quite a few more bone marrow tests than 'normal'. Fortunately, it only showed up once and then disappeared at next test and never showed up again. I still live with low level trisomy 8, however, which rises and falls. I suspect that is the reason my blood counts are still somewhat anemic, but consistent. I am told trisomy 8 has not been correlated with any bad outcome.

You will likely experience the same regarding monosomy 7. It bears close monitoring, but it should disappear. Stay vigilant.

In blood testing - "bad" genetic clones are often masked by the other cells which are in large numbers and so never show up at initial testing and diagnosis. As TKI's kill the majority clone off, these minor clones get revealed. Often it means nothing, but these mutations, which are always present,  can, under the correct circumstances, expand when the majority clone is reduced. This often leads to need for a different drug. It is a testament to the power of our immune systems that these minor clones never expand and often disappear on their own. And once gone, they tend not to show up again.

Thank you Scuba, fascinating insight into the issue and your journey. It is of course a stressful time and the waiting around for further tests and indications as to what is happening isn’t easy, but your story is a help. What you describe is broadly what my consultant has said, although he was very clear that it’s 50/50 as to whether healthy cells or the cells with the Monosomy 7 abnormality win the race to become dominant. To be speak to someone that has had the same issue and come out of it with a positive outcome is a real comfort.