Genetics and FISH test advice please

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This topic contains 5 replies, has 3 voices, and was last updated by  Anonymous 3 years, 11 months ago.

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  • #141650

    Anonymous

    Do any of you know more about genetic testing that is offered in the UK? I would like to understand more so I can ask appropriate questions when we have a telephone consultation with MM specialist. Lee now on Revlemid and dexamethasone as VTD and CTD made no difference to
    His light chains. He is in so much pain- back to where he was at diagnosis in July. Any advice regarding questions or research I can do would be appreciated. The smartpatient site is full of references to scores/tests that I just don’t understand.

    #141651

    Anonymous

    Sorry team- forgot to mention I have read the info sheet on myeloma website. Is there anything sensible I can ask the consultant? I know lee is high risk and currently all I can see is him
    Getting worse with every treatment and I want to be able to ask relevant questions without offending them or making myself look stupid

    #141652

    mark-j-underwood
    Participant

    Try reading this from a Doctor in Portugal… Other similar guidance is available if you do an Internet search.

    Genetic Test May Help Identify Ultra High-risk Multiple Myeloma

    #141653

    Anonymous

    That looks really interesting. Thank you so much.

    #141670

    mulberry
    Participant

    Hi Clare, I don’t think you can ask offensive or stupid questions, a good doctor will try to answer whatever questions you have. It may be worth ringing the Myeloma UK nurse too, Ellen is very knowledgeable, kind and helpful.
    As you’ve found myeloma is a very complex disease, or collection of very rare diseases which does impact on responses to treatments and your husband is not unique in having a myeloma that does not respond to the first few treatments.
    If I was your husband I would ask for a second opinion referral to a myeloma specialist (if he is not already seeing one). The new myeloma treatments target myeloma in different ways and in trials work for refractory myeloma. Many of the physical and physiological consequences of myeloma enormously improve once myeloma is under control, so don’t lose hope.
    My family history of cancer made me wonder if I (we) have BRAF gene, possible but not common in myeloma, so I asked my consultant to refer me to a geneticist, which I found helpful even though the geneticist declined doing full genetic testing at this point. This route may be an option for your husband?
    There are an enormous number of genes potentially involved with myeloma, the most commonly mutated pathway being RAS-MAPK pathway, 57% of us patients have mutations of NRAS,KRAS,BRAF, NFI or EGFR genes at some point, so it may be useful to know whether your husband has one or more of these.

    #141673

    Anonymous

    Thank you so much mulberry. Lee is under the care of a MM specialist thank goodness and I am assured he has had all the genetic testing. At his next appointment I will be asking for those results and asking if they can explain them in more detail to me. I have spoken to Ellen who was really helpful and kind in the our very early days of diagnosis ( July 2020) so I might just speak to her again. As a nurse myself I am always keen that I don’t upset/offend anyone or take peoples time and I think end up feeling isolated and trying to work things out for myself. That’s not a good idea as I end up getting absorbed in treatments/tests that are available outside the UK and then have nobody professionally to help me focus my efforts! Thank you so much for taking the time to respond to my message. I find this forum so helpful.

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