Expressed fusion gene landscape and its impact in
, R. Szalat
, M. Kemal Samur
, S. Robiou du Pont
, L. Buisson
, E. Boyle
, M.L. Chretien
, S. Minvielle
, P. Moreau
, M. Attal
, G. Parmigiani
, J. Corre
& H. Avet-Loiseau
Multiple myeloma is a plasma cell malignancy characterized by recurrent IgH translocations
and well described genomic heterogeneity. Although transcriptome proﬁles in multiple
myeloma has been described, landscape of expressed fusion genes and their clinical impact
remains unknown. To provide a comprehensive and detailed fusion gene cartography and
suggest new mechanisms of tumorigenesis in multiple myeloma, we performed RNA
sequencing in a cohort of 255 newly diagnosed and homogeneously treated multiple mye-
loma patients with long follow-up. Here, we report that patients have on average 5.5
expressed fusion genes. Kappa and lambda light chains and IgH genes are main partners in a
third of all fusion genes. We also identify recurrent fusion genes that signiﬁcantly impact both
progression-free and overall survival and may act as drivers of the disease. Lastly, we ﬁnd a
correlation between the number of fusions, the age of patients and the clinical outcome,
strongly suggesting that genomic instability drives prognosis of the disease.
Institut Montpellierain Alexander Grothendieck, CNRS, Univ. Montpellier, Montpellier 34090, France.
Medical Oncology, Dana-Farber Cancer Institute,
Harvard Medical School, Boston, MA 02115, USA.
Department of Biostatistics and Computational Biology, Dana-Farber Cancer, Institute, Harvard Medical
School, Boston, MA 02115, USA.
IUC-Oncopole, and CRCT INSERM U1037, Toulouse 31100, France.
CHU Dijon, Dijon 21000, France.
Nantes 44000, France.
VA Boston Healthcare System, West Roxbury, MA 02215, USA. Correspondence and requests for materials should be addressed to
N.M. (email: firstname.lastname@example.org) or to H.A.-L. (email: email@example.com)