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Genetics of Multiple Myeloma

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Genetic and Molecular Epidemiology of Multiple Myeloma

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Abstract

Multiple myeloma (MM) is a heterogeneous disease that utilizes genetic aberrations of the clonal plasma cells as one method to define its major subtypes. While specific genetic changes do not contribute to the definition of the diagnosis of MM, these changes have prognostic significance that allows division into different risk groups and subsequently allows different treatment guidelines based on risk group. Drugs like the proteasome inhibitor bortezomib have shown promise in the treatment of the high-risk group, but further improved treatment options are needed to target this group with the worst prognosis. Currently, no marker or genetic alteration has a predictive value to treatment response, and research is ongoing to find such predictive markers which would be invaluable to determine treatment sequence or combination. Promising new studies are revealing the importance of microRNA abnormalities and epigenetic changes in MM. While FISH and cytogenetic analyses are the standard of genetic evaluation, they have significant limitations, and other methods, including gene expression analyses and genomic sequencing, are evolving and will likely replace current methods with time with improved sensitivity. This chapter intends to summarize critical genetic alterations in MM, review research with microRNA and epigenetic changes, and discuss upcoming methods for genomic analysis in MM.

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Authors and Affiliations

  1. Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ, 85259-5494, USA

    Steven Schuster M.D.

  2. Mayo Clinic, 13400 East Shea Boulevard Collaborative Research Building, 3-024, Scottsdale, AZ, 85259-5494, USA

    Esteban Braggio Ph.D.

  3. Mayo Clinic, Mayo Clinic Cancer Center, 13400 East Shea Boulevard, Collaborative Research Building, 1-105, Scottsdale, AZ, 85259-5494, USA

    Rafael Fonseca M.D.

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  1. Steven Schuster M.D.
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  2. Esteban Braggio Ph.D.
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  3. Rafael Fonseca M.D.
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Correspondence to Esteban Braggio Ph.D. .

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Editors and Affiliations

  1. College of Physicians and Surgeons, Multiple Myeloma and Amyloidosis Service, Columbia University, 161 Fort Washington Avenue, New York, 10032, New York, USA

    Suzanne Lentzsch

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Schuster, S., Braggio, E., Fonseca, R. (2013). Genetics of Multiple Myeloma. In: Lentzsch, S. (eds) Genetic and Molecular Epidemiology of Multiple Myeloma. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4660-6_1

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