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    • Multiple Myeloma News
    • Myeloma Crowd Research Initiative
    • Oct 26, 2015

    MCRI Day 2 Challenge: Understanding Your Multiple Myeloma Genetics and Why You Need to Know

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The MCRI Day 2 Challenge: Watch the Video and Read about Myeloma Genetics

Then share on Social Media with #discovermyeloma #mmgenetics #curemyeloma. We receive $1 per share from our corporate sponsors that will be donated to myeloma research, but only if you include these hashtags on social media!

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Here’s what you can share on your Facebook timeline: (Just copy and paste it!) Day 2 Challenge: All myeloma patients are unique. Knowing your myeloma genetics can change the course of your care and improve your outcomes. Watch the video, read more and share using these hashtags to raise money for myeloma research! https://bit.ly/1POlJ9s #discovermyeloma #mmgenetics #curemyeloma


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Genetic Profiling Advances and How It’s Affecting Myeloma Therapy from Patient Power on Vimeo.

BY JENNY AHLSTROM

Four years ago, I attended a patient seminar after I finished treatment. I asked over 150 friends in attendance to raise their hand if they knew their multiple myeloma genetics. Less than 10% of them did.

I was pretty new to myeloma, but I was shocked. I had just had a genetic test done (called MyPRS) and learned that I had a very rare high-risk feature, while my other results looked quite good. My doctor said that we were fighting the enemy and should know as much about it as possible in order to develop the best game plan to fight it. I believed him then and still think it’s a great strategy.

Multiple myeloma is a very complex disease. According to Dr. Brian Van Ness, myeloma expert from the University of Minnesota, most patients have on average 5 different types of multiple myeloma at diagnosis. This means that all of the myeloma cells are not the same genetically. Some have aggressive features (like deletion 17) and others have unaggressive features (like 11;14). Knowing what you have matters! Sometimes, myeloma treatment may knock down one type but not quite get all of another, which is why relapse is common for most myeloma patients. And sometimes there are specific therapies that are better for specific genetic features, like bortezomib, which has been shown to be especially good for patients with del17.

I’ve had myeloma friends take a head-in-the-sand approach and say they’ll let the doctor worry about that. What their avoidance strategy tells me is that they believe that they have little control over their own outcomes. Not true! You can help craft your own care strategy, but you have to educate yourself to ask your doctor at least semi-intelligent questions. You will undoubtedly learn more over time.

Can knowing your genetic features change your treatment plan? A few years ago, the answer may have been “no.” But today, times are a-changing. Personalized care for your specific type of myeloma is the future of myeloma care.

When the average myeloma patient is diagnosed, almost all will receive what is known as the FISH (fluorescence in situ hybridization) test which can give some genetic results, but as Dr. Rafael Fonseca and Dr. Frits vanRhee explain, the FISH test only gives results if you run the right probes. In other words, you get what you test for. When I was diagnosed, I had a FISH test done, but it didn’t pick up my high-risk feature. I’m not sure if the probe to test for this particular feature wasn’t run at the time, or if the test simply didn’t pick it up. In any event, the FISH was still an important test to get, but didn’t tell me everything I needed to know.

One very helpful tool available today is the MyPRS test by Signal Genetics,  originally developed by the University of Arkansas for Medical Sciences (UAMS) and based on over 30 years of management for over 10,000 patients. According to Signal Genetics, the 70-gene prognostic signature has been applied to over 4,700 patients in studies performed in 4 countries and described in 17 peer-reviewed publications.

It is important to get this test when you have active disease or smoldering myeloma, because if you are in a remission status, the test can’t pick up the genetic features when the myeloma cells are gone.

The MyPRS® test gives you three points of key information:

1. Prognostic Risk Score: This analyzes 70 key gene signatures from the whole genome expression profile and gives you a risk score. If the results are close to a particular classification, you are given a “borderline” result. The score has a number, a classification of low or high risk and a prognosis (good or poor). Here’s what it looks like on the report: MyPRS results

The prognosis relates to overall survival. If you are considered high-risk, the probability of overall survival at 5 years is 38% whereas low-risk survival has a probability of overall survival at 5 years is 83%. Knowing your results will make you more aware and active in your own care.

2. Molecular Subtype Results 

Next, the 700-gene set from the patient’s whole-genome profile is divided into seven subtypes.

  • MMSET (MS) Subtype – The MMSET and FGFR3 genes are overexpressed because of the translocation t(4;14), which has poor prognosis
  • MAF Subtype – Either the MAF or MAFB gene is overexpressed, resulting from the translocations t(14;16) and t(14;20).
  • CD-1 and CD-2 Subtypes  – The genes CCND1,  CCND3 and TNFRSF7 are overexpressed because of the translocations t(11;14)(q13;q32) and t(6;14)(p21;q32),
  • Hyperdiploidy (HY) Subtype – Hyperdiploid myeloma (there are three instead of two chromosomes) of chromosomes 3, 5, 7, 9, 11, 15, 19, or 21. Genes commonly altered: DKK1, FRZB.
  • Low Bone Disease (LB) – Lower expression of genes involved in bone disease, and low incidence of MRI-defined focal bone lesions. Gene commonly altered: CST6.
  • Proliferation Subtype (PR)– Over-expression of cell cycle progression and cell proliferation genes CCNB1, CCNB2 and MAGEA6, relating to 1q amplification.  The PR class contains a high percentage of cases with chromosome damage and has poor survival.

3. Virtual Karyotyping Results

This part of the test looks at 816 genes to predict specific abnormalities for myeloma patients. These are matched up agains the standard cytogenetic techniques (like the FISH) to essentially detect the same thing. The results are 89% sensitive.  These tell you which translocations or gene deletions exist (like 14;20, 11;14, 4:14, 14;16, del 17, amp 1q or others)

Originally from the UK but now at UAMS, Dr. Gareth Morgan, MD, PhD believes it to be a very valuable test and uses the information that the test provides to alter treatment approaches.

Dr. Morgan notes:

We did significant work comparing the GEP70 to i-FISH, the interface FISH which people out there use as a standard and there is no doubt that the GEP70 was more accurate, shall we say, at identifying patients with high-risk behavior. It doesn’t identify all of the high-risk behavior, but if you are GEP70 positive, your clinical outcome is going to be aggressive and you are sure that people are going to relapse early and if you know that data, you alter your clinical approach to treatment – that is very, very clear and that is becoming more obvious. So it is good. It doesn’t identify all high-risk patients and in low risk there are some people with high-risk behavior, but if you test positive for high-risk, then it is sure that the disease will behave badly and need their treatment altered.

This test is Medicare approved. You are unique and knowing more about your disease will help you become an engaged partner in your care. If your doctor hasn’t mentioned this test, ask him or her about it. It is your life, and your myeloma, and you need all the ammunition you can for your very best outcomes.


Register to Hear About All Challenges

You can register to join the Myeloma Crowd MCRI 12-Day Challenge to receive daily emails about each challenge. We’ll keep you up-to-date on the daily challenge, track your social media shares and tell you who won the prize of the day. Our goal is to have thousands of people taking action – patients, caregivers, siblings, grandkids, long-lost friends and anyone who knows and loves a myeloma patient!

Register

 

Thanks to our 12-Day Challenge sponsors, Takeda Oncology and Signal Genetics. 

 

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About Author

Jenny A

Myeloma survivor, patient advocate, wife, mom of 6. Believer that patients can help accelerate a cure by weighing in and participating in clinical trials. Founder of Myeloma Crowd, Myeloma Crowd Radio and the CrowdCare Foundation.

13 Comments

  1. Tim Gilbride September 11, 2015 at 7:10 pm

    Thanks so much for this article Jenny. My wife, Carolyn, has myeloma and I have been struggling to understand myeloma genetics. We just returned from our first trip to UAMS (we live in Akron, Ohio) where she was thoroughly tested and has now become a patient of Dr van Rhee. The initial genetics results suggested to him that her myeloma has not mutated much, if at all, since diagnosis four years ago. This is despite the fact that she has relapsed through 8 different treatment regimens at home and has been running low on options. Surprisingly, Dr Van Rhee considers my wife a good candidate for a second auto SCT, done to UAMS’s aggresive standards. It could set the clock back for my wife if it works. So, yes, it’s great you are urging myeloma patients to seek out genetic profiling. It was certainly worth the effort it took us to get to UAMS.

    • Jenny A
      Jenny A September 18, 2015 at 11:46 am

      So glad your wife is being seen by a myeloma specialist. Dr. van Rhee is a true expert, especially on genetics!

  2. Linda Fletcher September 13, 2015 at 6:32 am

    I have Mgus what can I do to prevent or hold off getting Multiple myeloma? I take fish oil and green tea supplements as I was told but what else?? want to prevent getting Mm as long as possible.Thank you.

  3. Deborah Graff September 14, 2015 at 8:25 am

    Jenny, Thank you for your article! You are so right and the message you send- so important! I am so fortunate in that my genetic testing was done six years ago.( 17p deletion) We have treated the disease aggressively with the deletion being 17p,participated in two trials and am currently on the Daratumimab trial and feeling great……. Six years and going strong!

    • Lizzy September 14, 2015 at 9:39 am

      Fantastic! Do you mind sharing your treatment protocol over the past 6 years? Congrats– and may you have many, many more years!

    • Jenny A
      Jenny A September 18, 2015 at 11:46 am

      Yeah Deborah! I am so happy for you and so glad you know more about your myeloma!

  4. Laura September 16, 2015 at 7:47 pm

    So thankful to be treated at UAMS and have Dr. van Rhee as my doctor. Amazing facility and staff!!

  5. Carol October 27, 2015 at 1:33 am

    After meeting you and Lizzy I learned the importance of finding out my myeloma genetics. After meeting with you, I went right over to the clinic and asked to see my results. It’s made a difference and I’m more educated about my specific high risk factors. Thank you! Also thanks for sharing part of your story in this great article!

    • Jenny A
      Jenny A October 27, 2015 at 9:01 am

      Great job Carol! We are so glad you are asking the right questions! It does make a difference for your care. All the best to you and hope to see you soon!

  6. Barbara Somers October 27, 2015 at 4:57 pm

    What type of physician does one see for genetic testing. My mother died from multiple myeloma in 2000. Thank you.

    • Jenny A
      Jenny A October 27, 2015 at 9:55 pm

      Barbara, any multiple myeloma specialist should know how to run genetic tests for multiple myeloma. The larger facilities (like UAMS, Mayo and others) do these tests regularly before treatment and after relapse. Genetic testing like whole exome and whole genome sequencing are becoming much more affordable (now in the thousands and not tens of thousands) but if you don’t have cancer, doctors may not quite know what to do with the information. In myeloma and other cancers, the information is extremely valuable and can help tailor treatment for your specific type of cancer.

  7. Tony April 28, 2017 at 11:58 pm

    Hi,

    Can anyone please comment on the significance of an SMM patient with a MyPRS GEP70 score of “29” type CD-2 ?

    Does this result help establish the chances of the SMM becoming overt MM or does it only tie into the survival rate if becoming active MM?

    Thanks,
    Tony

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