MMprofilerGenetic profiling of Multiple Myeloma (a type of blood cancer)

There are many forms of Multiple Myeloma. Genetic profiling of the cancer cells helps in the selection of the best treatment.


Scroll down to see what steps are needed to determine the disease prognosis and to select the best corresponding treatment. 


The MMprofiler has been developed by SkylineDx


  • What is Multiple Myeloma?

    Multiple Myeloma (a type of cancer of the blood) is the malignant proliferation of a certain type of white blood cell, called plasma cells. This uncontrolled growth disturbs the formation of red blood cells, platelets and white blood cells in the bone marrow. The disease behaves differently in each patient and the effect of treatment is also variable. This variability is related to the genetic properties of the patient’s individual cancer cells. It is therefore important to test for these genetic properties as early as possible. 

  • More information about Multiple Myeloma

    Plasma cells produce antibodies and therefore play an important part in our immune system. Each plasma cell produces only one type of antibody. If your body produces too many of one type of plasma cell, that one type of antibody will be present in excess. In patients with Multiple Myeloma, one type of plasma cell shows uncontrolled malignant growth which results in a large amount of one type of antibody fragment, called M-protein. These large amounts are harmful to bones, organs and tissues. Moreover, the uncontrolled growth of the plasma cells in the bone marrow take up the space other useful bone marrow cells would otherwise take. 

    Multiple Myeloma is difficult to diagnose because patients often have rather vague symptoms in the beginning which could also have other causes. Common symptoms are non-specific back pain, pain in the ribs or tiredness. Many patients therefore wait too long before they visit their doctor, and when they finally do, the doctor often, understandably, does not make the diagnosis immediately. 

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    In this movie Mr. Scheurer tells his story after he was diagnosed with Multiple Myeloma. 

    How common is Multiple Myeloma?

    Every year there are an estimated 109,300 new patients diagnosed with Multiple Myeloma worldwide and, on average, 25 on 100.000 people are suffering from this disease. Most patients are aged over 60 years and there are slightly more men than women.

    Want more information about Multiple Myeloma? Ask your doctor, or look for more information on the website of the Hematon Patient Association [in Dutch only]. You will then leave this website.



  • Why is further research needed?

    Multiple Myeloma behaves differently in each patient and the effect of treatment is also variable, which is related to the unique genetic properties of the cancer cells. It is therefore important to make a careful assessment of these properties in the early stages of the disease.
    There are increasingly more modern medicines available which work in certain patients, but not in others. Choosing the most suitable therapy immediately after diagnosis increases the chances of a positive outcome. Using the correct therapy also prevents the unnecessary burden of treatments for patients, which may turn out to be ineffective but still cause side effects for the patient and increase unnecessary health care costs. 

    Unravelling the genetic properties of the disease requires a bone marrow biopsy. The cancer cells obtained are sent to a laboratory for further processing and purification, followed by the actual analysis of the genetic subtype of the cancer cells.

  • What happens to the bone marrow sample

    This schedule shows you the steps that take place over a period of 4/5 days, from receipt of the sample until the time the report is written. From mid 2015, the sample will be sent to the central SkylineDx laboratory in Rotterdam for analysis. In thesecond half of 2015, the analytical system will also be available to purchase for other molecular diagnostics laboratories throughout Europe - the preparation for this (trainings, certification etc.) are ongoing at this time.

Genetic subtyping

  • How does the MMprofiler determine the genetic subtype?

    Previous research has shown that the success of treatment depends on the genetic properties of the cancer cells of each individual patient. These properties can be identified by a ‘gene expression profile’. The bone marrow sample is purified, processed and applied to a biochip and analysed in a high-tech scanner. This is how the MMprofiler accurately determines the active properties of the various genes in the plasma cells of each patient (genes are parts of the genetic material in the nucleus of the cell, in this case the malignant plasma cells). After processing the data using an advanced software system, the treating health care professional is told what the genetic subtype is of the plasma cells and what this means for his/her patient’s risk profile.

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    At the American Society of Hematology (ASH) congress in 2014 Dr. Saad Usmani explains the relevance of the MMprofiler.

    Do you want more information about the technique?

    Have a look on our website. Here you can find an overview of the other genetic markers the MMprofiler measures and their significance. You can also find more documentation, literature references and contact details on the website. 

    What genetic properties does the MMprofiler system measure and why?

    Researchers at the Erasmus Medical Centre and SkylineDx jointly published a paper in Leukemia in 2012, describing a newly discovered genetic subtype in Multiple Myeloma, which is key to the risk profile of the patient. This gene expression profile, which maps the activity of no fewer than 92 genes (pieces of genetic material) was called ‘EMC92’ or ‘SKY92’. The chance of long-term survival in patients with Multiple Myeloma was found to correlate with the activity of these 92 genes. Plasma cells with SKY92 positive expression levels are associated with a poorer prognosis and this is considered a high risk profile. In contrast, patients who are SKY92 negative have a standard risk profile. In addition to SKY92 expression, which can distinguish between high-risk and standard-risk patients, the report details various other genetic cell properties (for the experts: gene signatures, cytogenetic markers, gene expression clusters and expression levels of certain genes). 


  • Risk assessment based on genetic subtyping: do you have a good or a poor prognosis?

    Knowing about the SKY92 genetic subtype can help distinguish between high-risk and standard-risk patients. Various clinical studies have shown that patients whose plasma cells contain this specific genetic profile (i.e. are SKY92 positive) have an on average 4 times shorter survival and relapse more quickly after treatment than patients who are SKY92 negative. About 1 in 5 patients have a high-risk profile, and therefore have a poorer prognosis. With this information health care professionals can now select a more intensive treatment more efficiently, which allows them to slow down disease progression as best as they can. The test also gives the standard-risk group of patients, based on the MMProfiler, more clarity on their future and allows the doctor and patient to select the most suitable treatment together. 

  • What is the significance of the results of genetic profiling for health care professionals?

    The MMProfiler currently allows health care professionals to distinguish between high-risk and standard-risk patients (poor/good prognosis) by evaluating SKY92 expression. This allows the intensity and timeframe of follow-up and treatment to be individualised to each patient.  Genetic profiling is also important for research & development of new medicines. Scientists perform clinical studies to find out more about the most effective treatments for the various Multiple Myeloma subtypes. Linking the activity of new medicines to the genetic subtype of patients’ plasma cells and subsequently evaluating whether the patient is benefiting (longer survival, higher quality of life, fewer relapses etc.) will allow better treatment decisions to be made on the basis of the genetic subtype in the future. In time, the gene expression profile of patients newly diagnosed with Multiple Myeloma will provide a definitive answer on which medicines will and won’t be effective for them and will allow a more effective, targeted treatment regimen to be established. 


  • What are the consequences for the treatment of high-risk and standard-risk patients?

    The test results will allow the health care professional to select a treatment on the basis of existing treatment guidelines for Multiple Myeloma. The current treatment guidelines for the Netherlands can be found here.

    Moreover, health care professionals may increase the frequency of follow-up visits and monitor patients differently once they confirm that the patient has a high-risk profile. The more data is available on the differences in efficacy of current and future treatments, and the more these findings can be linked to the patient’s genetic subtype, treatments will become increasingly more personalised: ‘Personalised Medicine’.

    The final decision to administer a certain treatment is made by the treating health care professional and we do not give any medical advice. Please refer to your treating health care professional to determine how the results of the MMprofiler, and your determined genetic subtype, effect your specific treatment plan. 

  • More questions about the clinical significance of genetic profiling in Multiple Myeloma?

    If you have more questions about the clinical significance of genetic profiling in Multiple Myeloma and the available treatments for Multiple Myeloma, look on the website of the Multiple Myeloma Research Foundation (MMRF) or the website of Myeloma UK

    Health care professionals and researchers can find  more documentation and literature references here or can get in contact with SkylineDx with the possiblity to plan a visit to the SkylineDx lab in Rotterdam here

  • Contact

    More information for health care professionals

    This website contains general information about genetic profiling for Multiple Myeloma and about how the MMprofiler works. Health care professionals and researchers can request more documentation, literature references, personal contact or a visit to the SkylineDx lab in Rotterdam here.


    More information for molecular diagnostics laboratories

    Molecular diagnostics laboratories in the Netherlands and other European countries can purchase and perform the test kit for themselves starting in the first half of 2015. This means that bone marrow samples can be analysed at local laboratories and that they no longer need to be sent to Rotterdam. Laboratories wishing to perform the test in-house may contact SkylineDx to make the necessary preparations. If the analytical system is not yet available at your hospital, SkylineDx can help you purchase the analytical system. Moreover, SkylineDx can train analysts and provide the analysts and the laboratory with a statement of competence. 

    SkylineDx Corporate Information

    Address details:
    Rotterdam Science Tower (18th floor)
    Marconistraat 16, 3029 AK Rotterdam
    The Netherlands

    Tel: +31 (0)10 7038410

    For more information, visit our website 

    © SkylineDx, 2015. This website has been compiled with the utmost care. SkylineDx aims to give general information about genotyping in Multiple Myeloma and the possible position of the MMprofiler system. For the patient, this is however not a substitute for contact with a health care professional. For suggestions or questions about the website, please email us.