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Kelangsungan hidup yang rendah  di beberapa pasien myeloma terkait dengan variasi genetik

Date:

July 22, 2015

Source:

Huntsman Cancer Institute at the University of Utah

Summary:

Beberapa pasien myeloma dengan variasi genetik pada gen FOPNL meninggal rata-rata 1-3 tahun lebih cepat dibandingkan pasien tanpa hal diatas . Temuan itu diidentifikasi dengan teknik pemetaan genetik , studi genom wide association ( GWAS ) , dan diverifikasi pada populasi pasien dari Amerika Utara dan Eropa . Ini adalah studi pertama untuk survei seluruh genom manusia untuk variasi genetik yang mempengaruhi kelangsungan hidup , dan merupakan langkah pertama menuju penerapan obat presisi untuk multiple myeloma .

.................. Diterbitkan di Nature Communications , hasil ini  adalah langkah menuju penerapan  obat presisi untuk multiple myeloma , kanker yang mempengaruhi sel-sel sumsum tulang plasma yang membantu mengkoordinasikan kekebalan respon tubuh  . Meskipun relatif jarang , penyakit ini agresif dan incurable , dengan 43 persen pasien meninggal dalam waktu lima tahun dari diagnosis . Penelitian selanjutnya akan fokus pada menemukan terapi yang meningkatkan prospek untuk bagian ini baru diidentifikasi , yang membuat sekitar 10-14 persen dari pasien multiple myeloma....more

Poor survival in multiple myeloma patients linked to genetic variation

Date:

July 22, 2015

Source:

Huntsman Cancer Institute at the University of Utah

Summary:

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 is a first step toward applying precision medicine to multiple myeloma.

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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.

Published in Nature Communications, the results are a step toward applying precision medicine to multiple myeloma, a cancer that affects bone marrow plasma cells that help coordinate the body's immune response. Although relatively rare, the disease is aggressive and incurable, with 43 percent of patients dying within five years of diagnosis. Future studies will focus on finding therapies that improve prospects for this newly identified subset, which makes up an estimated 10-14 percent of multiple myeloma 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."

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Story Source:

The above post is reprinted from materials provided byHuntsman Cancer Institute at the University of Utah. Note: Materials may be edited for content and length.

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Journal Reference:

1.    Celine Vachon et al. Genome-wide association study identifies variants at 16p13 associated with survival in multiple myeloma patients. Nature Communications, July 2015 DOI: 10.1038/ncomms8539

http://www.sciencedaily.com/releases/2015/07/150722082041.htm

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