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Genomic characterisation of multiple myeloma: study of a Portuguese cohort
  1. Alexandra Couto Oliveira1,
  2. Ilda Patrícia Ribeiro1,2,3,4,
  3. Luís Miguel Pires1,
  4. Ana Cristina Gonçalves2,3,4,5,
  5. Artur Paiva2,3,6,
  6. Catarina Geraldes2,3,4,5,7,
  7. Adriana Roque4,7,
  8. Ana Bela Sarmento-Ribeiro2,3,4,5,7,
  9. Joana Barbosa de Melo1,2,3,4,
  10. Isabel Marques Carreira1,2,3,4
  1. 1 University of Coimbra, Cytogenetics and Genomics Laboratory, Faculty of Medicine, Coimbra, Portugal
  2. 2 University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR) and Center of Investigation on Environment Genetics and Oncobiology (CIMAGO), Faculty of Medicine, Coimbra, Portugal
  3. 3 University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal
  4. 4 Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal
  5. 5 University of Coimbra, Laboratory of Oncobiology and Haematology and University Clinic of Haematology, Faculty of Medicine, Coimbra, Portugal
  6. 6 Cytometry Operational Management Unit, Clinical Pathology Service, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
  7. 7 Clinical Haematology Department, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
  1. Correspondence to Professor Isabel Marques Carreira, Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Pólo Ciências da Saúde, Coimbra 3000-354, Portugal; citogenetica{at}


Multiple myeloma (MM) genomic complexity reflects in the variable patients’ clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients’ clinical practice. These genomic alterations should be further assessed as possible biomarkers.

  • microarray analysis
  • biomarkers
  • tumour
  • multiple myeloma

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  • Handling editor Mary Frances McMullin.

  • ACO and IPR contributed equally.

  • Contributors ACO, IPR, LMP, ACG, AP, CG and AR performed the acquisition, analysis and interpretation of the data; CG, AR and ABS-R performed sample collection; ACO wrote the manuscript; ABS-R, JBdM and IMC designed the study. All authors reviewed critically and approved the manuscript.

  • Funding This work was funded by the oncology research grant NRC-LPCC/CIMAGO, Project: Genomic Characterization of Monoclonal Gammopathies Patients.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.