As part of a multi-institutional effort, researchers with Huntsman Cancer Institute at the University of Utah have found that multiple myeloma patients with a genetic variation in the gene FOPNL die on average 1-3 years sooner than patients without it. The finding was identified with a genetic mapping technique, genome wide association studies (GWAS), and verified in patient populations from North America and Europe. This was the first study to survey the entire human genome for genetic variation influencing survival, and included a total of 1,635 patients.
"This is the largest study of inherited genetics and myeloma survival to date. We were able to identify the FOPNL variant because it has quite a large effect on survival. With even larger collaborative studies, we hope to add to this," says Nicola Camp, Ph.D., Huntsman Cancer Institute investigator, professor of medicine and human genetics at the University of Utah School of Medicine, and Chair of the International Multiple Myeloma Consortium. "The ability to stratify patients based on their genetic make-up opens the door to personalizing their treatment and care." Camp led the study together with Elad Ziv, M.D., at the University of California, San Francisco (UCSF), Celine Vachon, Ph.D., at the Mayo College of Medicine Rochester and Federico Canzian, Ph.D., from the German Cancer Research Center. The collaboration includes contributions from 38 scientists at 18 institutions and reports on patient data from clinics across Utah, UCSF, the Mayo Clinic, and several European centers in Italy, Poland, Spain, France, Portugal and Germany. Although the researchers don't yet understand why the genetic variation in FOPNL is associated with poor prognosis, there are clues that it could be involved in disease progression through centrosome amplification. Analysis of separate multiple myeloma patient datasets show that those with the worst outcomes have abnormal amounts of FOPNL, and carry another sign of poor prognosis, a high centrosome index. The implication is that disruptions in FOPNL could affect fundamental mechanisms controlling the distribution of genetic material to newly made cells. "The results point us to a previously unrecognized gene as a determinant of myeloma prognosis. If we understand what about this gene is causing poor prognosis, that may lead to a better fundamental grasp of the pathways that are important of multiple myeloma progression," says first author Elad Ziv, M.D, a professor of medicine at UCSF. "Such knowledge could ultimately lead to better therapies." For the full article in Medical Express, click here.
about the author
Lizzy Smith was diagnosed with myeloma in 2012 at age 44. Within days, she left her job, ended her marriage, moved, and entered treatment. "To the extent I'm able, I want to prove that despite life's biggest challenges, it is possible to survive and come out stronger than ever," she says.