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

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Palomo L
  • Abáigar M
  • Vázquez I
  • Álvarez S
  • Cabezón M
  • Tazón-Vega B
  • Rapado I
  • Fuster-Tormo F
  • Benito R
  • Larrayoz MJ
  • Cigudosa JC
  • Zamora L
  • Valcárcel D
  • Cedena MT
  • Acha P
  • Hernández-Sánchez JM
  • Fernández-Mercado M
  • Hernández-Rivas JM
  • Calasanz MJ
  • Solé F
  • Spanish Group of MDS (GESMD)

Grupos

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.

Datos de la publicación

ISSN/ISSNe:
0007-1048, 1365-2141

BRITISH JOURNAL OF HAEMATOLOGY  WILEY

Tipo:
Article
Páginas:
605-622
PubMed:
31621063
Factor de Impacto:
1,907 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 35

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Keywords

  • chronic myelomonocytic leukaemia, guidelines, molecular genetics, myelodysplastic syndromes, next generation sequencing

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