Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/230718
Share/Export:
logo share SHARE logo core CORE BASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Title

Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

AuthorsGarcés, Juan-Jose; Bretones, Gabriel CSIC ORCID; Burgos, Leire; Valdes-Mas, Rafael; Puig, Noemi; Cedena, Maria-Teresa; Alignani, Diego; Rodríguez, Idoia; Álvarez Puente, Diana; García Álvarez, Miguel; Goicoechea, Ibai; Rodríguez, Sara; Calasanz, Mª Jose; Agirre, Xavier; Flores-Montero, Juan; Sanoja, Luzalba; Rodríguez-Otero, Paula; Ríos, Rafael; Martínez-López, Joaquín; Millacoy, Pamela; Palomera, Luis; Orbe, Rafael del; Pérez-Montaña, Albert; Omri, Halima El; Prosper, Felipe; Mateos, Maria Victoria; Rosiñol, Laura; Bladé, Joan; Lahuerta, Juan José; Orfao, Alberto CSIC ORCID ; López-Otín, Carlos; Miguel, Jesus F. San; Paiva, Bruno
KeywordsCancer genomics
Genetic testing
Metastasis
Translational research
Issue Date2020
PublisherSpringer Nature
CitationLeukemia 34: 3007-3018 (2020)
AbstractMultiple myeloma (MM) patients undergo repetitive bone marrow (BM) aspirates for genetic characterization. Circulating tumor cells (CTCs) are detectable in peripheral blood (PB) of virtually all MM cases and are prognostic, but their applicability for noninvasive screening has been poorly investigated. Here, we used next-generation flow (NGF) cytometry to isolate matched CTCs and BM tumor cells from 53 patients and compared their genetic profile. In eight cases, tumor cells from extramedullary (EM) plasmacytomas were also sorted and whole-exome sequencing was performed in the three spatially distributed tumor samples. CTCs were detectable by NGF in the PB of all patients with MM. Based on the cancer cell fraction of clonal and subclonal mutations, we found that ~22% of CTCs egressed from a BM (or EM) site distant from the matched BM aspirate. Concordance between BM tumor cells and CTCs was high for chromosome arm-level copy number alterations (≥95%) though not for translocations (39%). All high-risk genetic abnormalities except one t(4;14) were detected in CTCs whenever present in BM tumor cells. Noteworthy, ≥82% mutations present in BM and EM clones were detectable in CTCs. Altogether, these results support CTCs for noninvasive risk-stratification of MM patients based on their numbers and genetic profile.
Publisher version (URL)http://dx.doi.org/10.1038/s41375-020-0883-0
URIhttp://hdl.handle.net/10261/230718
DOI10.1038/s41375-020-0883-0
ISSN0887-6924
E-ISSN1476-5551
Appears in Collections:(IBMCC) Artículos

Files in This Item:
File Description SizeFormat
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work

SCOPUSTM   
Citations

3
checked on Jan 14, 2022

WEB OF SCIENCETM
Citations

3
checked on Jan 19, 2022

Page view(s)

67
checked on Jan 21, 2022

Download(s)

12
checked on Jan 21, 2022

Google ScholarTM

Check

Altmetric

Dimensions


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.