Publicaciones científicas

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

01-mar-2020 | Revista: British Journal of Haematology

Laura Palomo, Mariam Ibáñez, María Abáigar, Iria Vázquez, Sara Álvarez, Marta Cabezón, Bárbara Tazón-Vega, Inmaculada Rapado, Francisco Fuster-Tormo, José Cervera, Rocío Benito, María J Larrayoz, Juan C Cigudosa, Lurdes Zamora, David Valcárcel, María T Cedena, Pamela Acha, Jesús M Hernández-Sánchez, Marta Fernández-Mercado, Guillermo Sanz, Jesús M Hernández-Rivas, María J Calasanz, Francesc Solé, Esperanza Such, Spanish Group of MDS (GESMD)


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.

CITA DEL ARTÍCULO  Br J Haematol. 2020 Mar;188(5):605-622. doi: 10.1111/bjh.16175. Epub 2019 Oct 16.