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: Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01, Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406d, Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086, Hernandez-Rivas, J.M. (Jesús M.)|||/items/2f34a70c-322e-44dc-bca7-b9cc4012f7d1, Sanz, G. (Guillermo)|||/items/245054ab-1262-4b35-93cf-433425f0b611, Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc, Hernandez, J.M. (J. M.)|||/items/1355edb0-0024-4fb3-a667-9f0e8a4b6b31, Acha, P. (Pamela)|||/items/7d12fe4a-6af1-41ff-8d28-87598f6ca8cb, Cedena, M.T. (María Teresa)|||/items/d705f426-0f79-48ac-903d-b1035da55c84, Valcarcel, D. (David)|||/items/672eb58a-39da-45ab-85d2-58b2496cd1ab, Zamora, L. (Lurdes)|||/items/697a0ed2-1ddb-4889-baf4-f6472933713f, Cigudosa, J.C. (Juan Cruz)|||/items/81ac2a66-7c9e-4a8d-b44b-92f7552c954a, Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02, Benito, R. (Rocío)|||/items/52f98922-bf9e-468a-a34b-f5e529a27756, Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070fa, Fuster-Tormo, F. (Francisco)|||/items/da1eefc4-811f-4264-a12b-7b14edfa429d, Rapado, I. (Inmaculada)|||/items/801c3a66-18a1-479e-a2b7-3a29d15283ab, Tazón-Vega, Bárbara|||/items/615e5185-c87e-4883-a0b2-2634cfa12c6c, Cabezón, Marta|||/items/52406e8c-2fdd-441d-a2ff-dea8b197277d, Alvarez, S. (Sara)|||/items/7444e191-c10a-403c-9a56-c7d34e856863, Vazquez, I. (Iria)|||/items/302ec002-2422-4542-b373-6cc8b03418a4, Abaigar, M. (María)|||/items/06c12ce8-38fb-4ba1-a300-fea2586b391d, Ibáñez, M. (Mariam)|||/items/3a9343cf-e255-43a9-9a5f-012fe153ea59, Palomo, L. (Laura)|||/items/6ca7cad4-8c61-48dc-8582-275ba50c7b13
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Universidad de Navarra
Repositorio:Dadun. Depósito Académico Digital de la Universidad de Navarra
Idioma:inglés
OAI Identifier:oai:dadun.unav.edu:10171/58850
Acceso en línea:https://hdl.handle.net/10171/58850
Access Level:acceso abierto
Palabra clave:Chronic myelomonocytic leukaemia
Myelodysplastic syndromes
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 leukaemiaSuch, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406dCalasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086Hernandez-Rivas, J.M. (Jesús M.)|||/items/2f34a70c-322e-44dc-bca7-b9cc4012f7d1Sanz, G. (Guillermo)|||/items/245054ab-1262-4b35-93cf-433425f0b611Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bcHernandez, J.M. (J. M.)|||/items/1355edb0-0024-4fb3-a667-9f0e8a4b6b31Acha, P. (Pamela)|||/items/7d12fe4a-6af1-41ff-8d28-87598f6ca8cbCedena, M.T. (María Teresa)|||/items/d705f426-0f79-48ac-903d-b1035da55c84Valcarcel, D. (David)|||/items/672eb58a-39da-45ab-85d2-58b2496cd1abZamora, L. (Lurdes)|||/items/697a0ed2-1ddb-4889-baf4-f6472933713fCigudosa, J.C. (Juan Cruz)|||/items/81ac2a66-7c9e-4a8d-b44b-92f7552c954aLarrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02Benito, R. (Rocío)|||/items/52f98922-bf9e-468a-a34b-f5e529a27756Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070faFuster-Tormo, F. (Francisco)|||/items/da1eefc4-811f-4264-a12b-7b14edfa429dRapado, I. (Inmaculada)|||/items/801c3a66-18a1-479e-a2b7-3a29d15283abTazón-Vega, Bárbara|||/items/615e5185-c87e-4883-a0b2-2634cfa12c6cCabezón, Marta|||/items/52406e8c-2fdd-441d-a2ff-dea8b197277dAlvarez, S. (Sara)|||/items/7444e191-c10a-403c-9a56-c7d34e856863Vazquez, I. (Iria)|||/items/302ec002-2422-4542-b373-6cc8b03418a4Abaigar, M. (María)|||/items/06c12ce8-38fb-4ba1-a300-fea2586b391dIbáñez, M. (Mariam)|||/items/3a9343cf-e255-43a9-9a5f-012fe153ea59Palomo, L. (Laura)|||/items/6ca7cad4-8c61-48dc-8582-275ba50c7b13Chronic myelomonocytic leukaemiaMyelodysplastic syndromesNext 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.Dadun. Depósito Académico Digital Universidad de Navarra20202020-02-1820192019-01-0120192019-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/58850reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/588502026-06-21T12:47:57Z
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
Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01
Chronic myelomonocytic leukaemia
Myelodysplastic syndromes
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 Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01
Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406d
Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086
Hernandez-Rivas, J.M. (Jesús M.)|||/items/2f34a70c-322e-44dc-bca7-b9cc4012f7d1
Sanz, G. (Guillermo)|||/items/245054ab-1262-4b35-93cf-433425f0b611
Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc
Hernandez, J.M. (J. M.)|||/items/1355edb0-0024-4fb3-a667-9f0e8a4b6b31
Acha, P. (Pamela)|||/items/7d12fe4a-6af1-41ff-8d28-87598f6ca8cb
Cedena, M.T. (María Teresa)|||/items/d705f426-0f79-48ac-903d-b1035da55c84
Valcarcel, D. (David)|||/items/672eb58a-39da-45ab-85d2-58b2496cd1ab
Zamora, L. (Lurdes)|||/items/697a0ed2-1ddb-4889-baf4-f6472933713f
Cigudosa, J.C. (Juan Cruz)|||/items/81ac2a66-7c9e-4a8d-b44b-92f7552c954a
Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02
Benito, R. (Rocío)|||/items/52f98922-bf9e-468a-a34b-f5e529a27756
Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070fa
Fuster-Tormo, F. (Francisco)|||/items/da1eefc4-811f-4264-a12b-7b14edfa429d
Rapado, I. (Inmaculada)|||/items/801c3a66-18a1-479e-a2b7-3a29d15283ab
Tazón-Vega, Bárbara|||/items/615e5185-c87e-4883-a0b2-2634cfa12c6c
Cabezón, Marta|||/items/52406e8c-2fdd-441d-a2ff-dea8b197277d
Alvarez, S. (Sara)|||/items/7444e191-c10a-403c-9a56-c7d34e856863
Vazquez, I. (Iria)|||/items/302ec002-2422-4542-b373-6cc8b03418a4
Abaigar, M. (María)|||/items/06c12ce8-38fb-4ba1-a300-fea2586b391d
Ibáñez, M. (Mariam)|||/items/3a9343cf-e255-43a9-9a5f-012fe153ea59
Palomo, L. (Laura)|||/items/6ca7cad4-8c61-48dc-8582-275ba50c7b13
author Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01
author_facet Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01
Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406d
Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086
Hernandez-Rivas, J.M. (Jesús M.)|||/items/2f34a70c-322e-44dc-bca7-b9cc4012f7d1
Sanz, G. (Guillermo)|||/items/245054ab-1262-4b35-93cf-433425f0b611
Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc
Hernandez, J.M. (J. M.)|||/items/1355edb0-0024-4fb3-a667-9f0e8a4b6b31
Acha, P. (Pamela)|||/items/7d12fe4a-6af1-41ff-8d28-87598f6ca8cb
Cedena, M.T. (María Teresa)|||/items/d705f426-0f79-48ac-903d-b1035da55c84
Valcarcel, D. (David)|||/items/672eb58a-39da-45ab-85d2-58b2496cd1ab
Zamora, L. (Lurdes)|||/items/697a0ed2-1ddb-4889-baf4-f6472933713f
Cigudosa, J.C. (Juan Cruz)|||/items/81ac2a66-7c9e-4a8d-b44b-92f7552c954a
Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02
Benito, R. (Rocío)|||/items/52f98922-bf9e-468a-a34b-f5e529a27756
Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070fa
Fuster-Tormo, F. (Francisco)|||/items/da1eefc4-811f-4264-a12b-7b14edfa429d
Rapado, I. (Inmaculada)|||/items/801c3a66-18a1-479e-a2b7-3a29d15283ab
Tazón-Vega, Bárbara|||/items/615e5185-c87e-4883-a0b2-2634cfa12c6c
Cabezón, Marta|||/items/52406e8c-2fdd-441d-a2ff-dea8b197277d
Alvarez, S. (Sara)|||/items/7444e191-c10a-403c-9a56-c7d34e856863
Vazquez, I. (Iria)|||/items/302ec002-2422-4542-b373-6cc8b03418a4
Abaigar, M. (María)|||/items/06c12ce8-38fb-4ba1-a300-fea2586b391d
Ibáñez, M. (Mariam)|||/items/3a9343cf-e255-43a9-9a5f-012fe153ea59
Palomo, L. (Laura)|||/items/6ca7cad4-8c61-48dc-8582-275ba50c7b13
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author2 Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406d
Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086
Hernandez-Rivas, J.M. (Jesús M.)|||/items/2f34a70c-322e-44dc-bca7-b9cc4012f7d1
Sanz, G. (Guillermo)|||/items/245054ab-1262-4b35-93cf-433425f0b611
Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc
Hernandez, J.M. (J. M.)|||/items/1355edb0-0024-4fb3-a667-9f0e8a4b6b31
Acha, P. (Pamela)|||/items/7d12fe4a-6af1-41ff-8d28-87598f6ca8cb
Cedena, M.T. (María Teresa)|||/items/d705f426-0f79-48ac-903d-b1035da55c84
Valcarcel, D. (David)|||/items/672eb58a-39da-45ab-85d2-58b2496cd1ab
Zamora, L. (Lurdes)|||/items/697a0ed2-1ddb-4889-baf4-f6472933713f
Cigudosa, J.C. (Juan Cruz)|||/items/81ac2a66-7c9e-4a8d-b44b-92f7552c954a
Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02
Benito, R. (Rocío)|||/items/52f98922-bf9e-468a-a34b-f5e529a27756
Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070fa
Fuster-Tormo, F. (Francisco)|||/items/da1eefc4-811f-4264-a12b-7b14edfa429d
Rapado, I. (Inmaculada)|||/items/801c3a66-18a1-479e-a2b7-3a29d15283ab
Tazón-Vega, Bárbara|||/items/615e5185-c87e-4883-a0b2-2634cfa12c6c
Cabezón, Marta|||/items/52406e8c-2fdd-441d-a2ff-dea8b197277d
Alvarez, S. (Sara)|||/items/7444e191-c10a-403c-9a56-c7d34e856863
Vazquez, I. (Iria)|||/items/302ec002-2422-4542-b373-6cc8b03418a4
Abaigar, M. (María)|||/items/06c12ce8-38fb-4ba1-a300-fea2586b391d
Ibáñez, M. (Mariam)|||/items/3a9343cf-e255-43a9-9a5f-012fe153ea59
Palomo, L. (Laura)|||/items/6ca7cad4-8c61-48dc-8582-275ba50c7b13
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dc.contributor.none.fl_str_mv Dadun. Depósito Académico Digital Universidad de Navarra
dc.subject.none.fl_str_mv Chronic myelomonocytic leukaemia
Myelodysplastic syndromes
Next generation sequencing
Guidelines
Molecular genetics
topic Chronic myelomonocytic leukaemia
Myelodysplastic syndromes
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 2019
2019-01-01
2019
2019-01-01
2020
2020-02-18
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
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url https://hdl.handle.net/10171/58850
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eng
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