| Title: |
Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia |
| Authors: |
Palomo, Laura; Ibáñez, Mariam; Abáigar, María; Vázquez, Iria; Álvarez, Sara; Cabezón, Marta; Tazón‐Vega, Bárbara; Rapado, Inmaculada; Fuster‐Tormo, Francisco; Cervera, José; Benito, Rocío; Larrayoz, María J.; Cigudosa, Juan C.; Zamora, Lurdes; Valcárcel, David; Cedena, María T.; Acha, Pamela; Hernández‐Sánchez, Jesús M.; Fernández‐Mercado, Marta; Sanz, Guillermo; Hernández‐Rivas, Jesús M.; Calasanz, María J.; Solé, Francesc; Such, Esperanza |
| Contributors: |
Generalitat de Catalunya; Celgene; Fundación Española de Hematología y Hemoterapia; Instituto de Salud Carlos III; Fundación Científica Asociación Española Contra el Cáncer; Ministerio de Economía y Competitividad |
| Source: |
British Journal of Haematology ; volume 188, issue 5, page 605-622 ; ISSN 0007-1048 1365-2141 |
| Publisher Information: |
Wiley |
| Publication Year: |
2019 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
Summary 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1111/bjh.16175 |
| Availability: |
https://doi.org/10.1111/bjh.16175; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fbjh.16175; https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16175; https://onlinelibrary.wiley.com/doi/full-xml/10.1111/bjh.16175 |
| Rights: |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.A0CBF000 |
| Database: |
BASE |