Scientific publications 

The Mutational Landscape of Circulating Tumor Cells in Multiple Myeloma

Mishima Y (1), Paiva B (2), Shi J (3), Park J (4), Manier S (5), Takagi S (5), Massoud M (5), Perilla-Glen A (5), Aljawai Y (5), Huynh D (5), Roccaro AM (6), Sacco A (6), Capelletti M (5), Detappe A (5), Alignani D (2), Anderson KC (5), Munshi NC (5), Prosper F (2), Lohr JG (7), Ha G (7), Freeman SS (7), Van Allen EM (4), Adalsteinsson VA (7), Michor F 3, San Miguel JF (2), Ghobrial IM (8).

(1) Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan.
(2) Clinica Universidad de Navarra, Centro de Investigaciones Medicas Aplicadas (CIMA), Instituto de Investigación Sanitaria de Navarra (IDISNA), Pamplona 31008, Spain.
(3) Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02215, USA.
(4) Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; The Eli and Edythe L. Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
(5) Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA.
(6) Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; ASST Spedali Civili Department Medical Oncology, CREA Laboratory, Brescia 25121, Italy.
(7) The Eli and Edythe L. Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
(8) Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA 

Magazine: Cell Reports

Date: Apr 4, 2017

Haematology and Hameotherapy

The development of sensitive and non-invasive "liquid biopsies" presents new opportunities for longitudinal monitoring of tumor dissemination and clonal evolution.

The number of circulating tumor cells (CTCs) is prognostic in multiple myeloma (MM), but there is little information on their genetic features. Here, we have analyzed the genomic landscape of CTCs from 29 MM patients, including eight cases with matched/paired bone marrow (BM) tumor cells.

Our results show that 100% of clonal mutations in patient BM were detected in CTCs and that 99% of clonal mutations in CTCs were present in BM MM. These include typical driver mutations in MM such as in KRAS, NRAS, or BRAF. These data suggest that BM and CTC samples have similar clonal structures, as discordances between the two were restricted to subclonal mutations.

Accordingly, our results pave the way for potentially less invasive mutation screening of MM patients through characterization of CTCs

CITATION  Cell Rep. 2017 Apr 4;19(1):218-224. doi: 10.1016/j.celrep.2017.03.025

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