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

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 recu...

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Detalles Bibliográficos
Autores: Palomo Sanchís, Laura|||0000-0003-3176-6271, Ibáñez, Mariam, Abáigar, María, Vázquez, Iria, Álvarez, Sara, Cabezón, Marta|||0000-0001-5122-7481, Tazón-Vega, Bárbara|||0000-0003-4513-5104, Rapado, Inmaculada, Fuster-Tormo, Francisco|||0000-0002-1220-6183, Cervera, José|||0000-0001-8252-1106, Benito, Rocío|||0000-0001-9781-4198, Larrayoz, María J., Cigudosa, Juan C., Zamora, Lurdes|||0000-0003-1713-7110, Valcárcel, David|||0000-0002-8747-078X, Cedena, María Teresa|||0000-0001-5851-3720, Acha, Pamela|||0000-0002-4528-1219, Hernández-Sánchez, Jesús M., Fernández-Mercado, Marta, Sanz, Guillermo|||0000-0002-2767-8191, Hernández Rivas, Jesús María|||0000-0002-9661-9371, Calasanz, M.J|||0000-0002-0374-3008, Sole, F.|||0000-0002-3251-2161, Such, Esperanza|||0000-0001-6892-403X
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:226647
Acceso en línea:https://ddd.uab.cat/record/226647
https://dx.doi.org/urn:doi:10.1111/bjh.16175
Access Level:acceso abierto
Palabra clave:Myelodysplastic syndromes
Chronic myelomonocytic leukaemia
Next generation sequencing
Guidelines
Molecular genetics
Descripción
Sumario: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.

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