Mapping the Myeloma Genome

Frequently Asked Questions

A Resource Guide for Patients


The Multiple Myeloma Research Foundation (MMRF) has prepared the following resource guide to assist patients and their families in understanding the recent publication in Nature on results from the sequencing work from the MMRF Multiple Myeloma Genomics Initiative, a cutting-edge research program that led to the mapping of the myeloma genome. We encourage all patients with more detailed questions about their own care to contact their individual oncologist.

Why is this research important?

What role did the MMRF play in this research?

How were patient samples collected?

What do the results you announced mean for patients?

The paper highlighted the importance of BRAF in multiple myeloma. What does this finding mean for patients today?

I am a patient with multiple myeloma. Can I get screened for this mutation?

Can I have my genome sequenced?

What other types of testing are available for patients with multiple myeloma?

What can patients do to participate in this research?


Why is this research important?

The study published in Nature marks an important step toward the development of new and better treatments for multiple myeloma. The MMRF undertook this research to improve our understanding of how multiple myeloma develops. We believe that, over time, this improved biological understanding will help scientists uncover new ways of treating this disease. Already, the research has given us clues that can be tested in some patients with multiple myeloma, and has highlighted other longer-term strategies we are exploring through targeted investments in research.


What role did the MMRF play in this research?

The MMRF has long been focused on understanding the molecular subtypes of this fatal disease, which is both rare and very heterogeneous. In the near-term, our goal is to understand why some patients respond better than others to today’s medicines, and how we should respond when they develop resistance. Longer-term, we need a greater understanding of the biological changes that occur throughout the course of a person’s disease, in order to steer our clinical development efforts toward known mechanisms in multiple myeloma.

The MMRF launched the multimillion-dollar Multiple Myeloma Genomics Initiative (MMGI) in 2005 to accelerate the development of tailored therapies to extend and improve patients’ lives.  The MMGI now stands as the most comprehensive research collaboration ever focused on the genomics of multiple myeloma.

The study published in Nature was performed on patient samples gathered via the Multiple Myeloma Research Consortium (MMRC), a network of 16 collaborating academic medical centers, and organized into a centralized tissue bank.  Funding for the project, which is ongoing, comes from the MMRF.


How were patient samples collected?

This study would not have been possible without the incredible support of the patient community. Each of the 38 samples studied were drawn from the MMRF Tissue Bank, which today includes contributions from more than 3000 patients who have voluntarily provided a bone marrow sample. This type of research participation is critically important, and we are very grateful to everyone who has contributed to our success to date.


What do the results you announced mean for patients?

We believe that these initial insights into the multiple myeloma genome will be a critically important resource for the research community, and will rapidly accelerate the  development of new and better therapies for multiple myeloma. Armed with the insights that come from this work, we are funding additional scientific research to advance promising avenues of research. We are also in discussions with companies about the possible inclusion of patients whose myeloma may have a rare but specific genetic mutation in clinical trials of an experimental therapy they are testing for other types of cancer.

These results will not lead to new therapies right away, but they are an important step in that direction.


The paper highlighted the importance of BRAF in multiple myeloma. What does this finding mean for patients today?

One of the unexpected findings of the paper was the discovery of a mutation in an enzyme called BRAF, which is known to be common in other cancers such as melanoma but had not been previously identified in multiple myeloma. The Nature paper estimated that this mutation was seen in 4% of patients studied. There are currently drugs in development for other cancers which may be effective at targeting this protein, meaning that they may have utility in the small set of patients with multiple myeloma who have this mutation. We are excited by this finding, and are in discussion with manufacturers of this experimental drug to determine whether it might be tested in multiple myeloma.


I am a patient with multiple myeloma. Can I get screened for this mutation?

At present, we are not aware of any way that a person might be screened for the BRAF mutation. If there should be a clinical trial in multiple myeloma for a compound that targets BRAF, this type of screening would be a necessary component of the research. In the meantime, patients with any questions about their medical care are encouraged to speak with their physician.

We also found that specific proteins known as histone methyltransferases (HMTs) and DNA methyltransferases (DMTs) appeared mutated in a large number of myeloma patient samples. Those proteins are the master switches of the epigenetics apparatus that allows a cell to simultaneously control the expression of hundreds of genes. This finding gives us another potential avenue for intervening in this disease.

In light of these findings, we are investing more than $5 million in programs focused on epigenetic approaches, with an aim to accelerate the translation of these findings into effective treatments for multiple myeloma. In addition, we have funded two biotechnology companies who are working on epigenetic targets that have been identified by this research.


Can I have my genome sequenced?

Presently, genome sequencing is conducted only in a research setting, where results for individual tissue samples are kept anonymous for research purposes. This type of testing has not been validated as a diagnostic, prognostic or predictive test for individual patients.


What other types of testing are available for patients with multiple myeloma?

In some treatment settings, patients undergo a variety of laboratory tests to help determine whether they have a more aggressive form of multiple myeloma. Information from these tests may influence some treatment decisions. Unlike breast, lung, colon and other cancers, however, there are no tests currently available that would indicate unequivocally which specific treatment a patient with multiple myeloma should receive. 


What can patients do to participate in this research?

It is important to stress that this work would not be possible without the willing participation of so many patients in donating bone marrow samples to the MMRC Tissue Bank. The Genomics Initiative is ongoing; it takes thousands of tissue donations for us collect enough high-quality samples for this type of research, and the need for tissue will only continue to grow as we take on larger and more ambitious studies to answer the many remaining questions that will need to be answered. To achieve success, the MMRC needs patients’ support – by donating their tissue to our Tissue Bank – like never before.

We highly encourage patients with multiple myeloma to discuss with their physician the possibility of donating tissue through one of the 16 MMRC study sites.