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Br J Haematol. 2019 Oct 16. doi: 10.1111/bjh.16175. [Epub ahead of print]

Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

Author information

1
Josep Carreras Leukaemia Research Institute, ICO Badalona-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Sadalona, Spain.
2
Department of Haematology, Hospital Universitari i Politècnic La Fe, València, Spain.
3
Centro de Investigacion Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, Madrid, Spain.
4
Departamento de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad CEU Cardenal Herrera, València, Spain.
5
Institute of Biomedical Research of Salamanca (IBSAL), Cancer Research Centre (IBMCC-CIC; Univ. of Salamanca-CSIC), Salamanca, Spain.
6
Haematological Diseases Laboratory, CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain.
7
Navarra Institute for Health Research (IdiSNA), Pamplona, Spain.
8
NIMGenetics, Genómica y Medicina, S.L., Madrid, Spain.
9
Haematology Service, ICO Badalona-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute, Badalona, Spain.
10
Department of Haematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.
11
Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
12
Haematology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
13
Haematological Malignancies Clinical Research Unit, CNIO, Madrid, Spain.
14
Centro de investigación Biomédica en Red Cáncer (CIBERONC), Madrid, Spain.
15
Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
16
University of Salamanca (USAL), Salamanca, Spain.
17
Advanced Genomics Laboratory, Centre for Applied Medical Research (CIMA), University of Navarra, Haemato-Oncology, Pamplona, Spain.
18
Biomedical Engineering Department, School of Engineering, University of Navarra, San Sebastian, Spain.
19
Hospital Universitario de Salamanca, Salamanca, Spain.

Abstract

The landscape of medical sequencing has rapidly changed with the evolution of next generation sequencing (NGS). These technologies have contributed to the molecular characterization of the myelodysplastic syndromes (MDS) and chronic myelomonocytic leukaemia (CMML), through the identification of recurrent gene mutations, which are present in >80% of patients. These mutations contribute to a better classification and risk stratification of the patients. Currently, clinical laboratories include NGS genomic analyses in their routine clinical practice, in an effort to personalize the diagnosis, prognosis and treatment of MDS and CMML. NGS technologies have reduced the cost of large-scale sequencing, but there are additional challenges involving the clinical validation of these technologies, as continuous advances are constantly being made. In this context, it is of major importance to standardize the generation, analysis, clinical interpretation and reporting of NGS data. To that end, the Spanish MDS Group (GESMD) has expanded the present set of guidelines, aiming to establish common quality standards for the adequate implementation of NGS and clinical interpretation of the results, hoping that this effort will ultimately contribute to the benefit of patients with myeloid malignancies.

KEYWORDS:

chronic myelomonocytic leukaemia; guidelines; molecular genetics; myelodysplastic syndromes; next generation sequencing

PMID:
31621063
DOI:
10.1111/bjh.16175

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