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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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
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spelling Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemiaPalomo Sanchís, Laura|||0000-0003-3176-6271Ibáñez, MariamAbáigar, MaríaVázquez, IriaÁlvarez, SaraCabezón, Marta|||0000-0001-5122-7481Tazón-Vega, Bárbara|||0000-0003-4513-5104Rapado, InmaculadaFuster-Tormo, Francisco|||0000-0002-1220-6183Cervera, José|||0000-0001-8252-1106Benito, Rocío|||0000-0001-9781-4198Larrayoz, María J.Cigudosa, Juan C.Zamora, Lurdes|||0000-0003-1713-7110Valcárcel, David|||0000-0002-8747-078XCedena, María Teresa|||0000-0001-5851-3720Acha, Pamela|||0000-0002-4528-1219Hernández-Sánchez, Jesús M.Fernández-Mercado, MartaSanz, Guillermo|||0000-0002-2767-8191Hernández Rivas, Jesús María|||0000-0002-9661-9371Calasanz, M.J|||0000-0002-0374-3008Sole, F.|||0000-0002-3251-2161Such, Esperanza|||0000-0001-6892-403XMyelodysplastic syndromesChronic myelomonocytic leukaemiaNext generation sequencingGuidelinesMolecular geneticsThe 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. 22019-01-0120192019-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/226647https://dx.doi.org/urn:doi:10.1111/bjh.16175reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI11-02519Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-288Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16-00159open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2266472026-06-06T12:50:31Z
dc.title.none.fl_str_mv Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
title Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
spellingShingle Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
Palomo Sanchís, Laura|||0000-0003-3176-6271
Myelodysplastic syndromes
Chronic myelomonocytic leukaemia
Next generation sequencing
Guidelines
Molecular genetics
title_short Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
title_full Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
title_fullStr Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
title_full_unstemmed Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
title_sort Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
dc.creator.none.fl_str_mv 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
author Palomo Sanchís, Laura|||0000-0003-3176-6271
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Myelodysplastic syndromes
Chronic myelomonocytic leukaemia
Next generation sequencing
Guidelines
Molecular genetics
topic Myelodysplastic syndromes
Chronic myelomonocytic leukaemia
Next generation sequencing
Guidelines
Molecular genetics
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2
2019-01-01
2019
2019-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/226647
https://dx.doi.org/urn:doi:10.1111/bjh.16175
url https://ddd.uab.cat/record/226647
https://dx.doi.org/urn:doi:10.1111/bjh.16175
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI11-02519
Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-288
Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16-00159
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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