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...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| 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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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 |
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Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01 |
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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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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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author author author author author author author author author author author author author author author author author author author author author author author |
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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. |
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2019 |
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2019 2019-01-01 2019 2019-01-01 2020 2020-02-18 |
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Inglés eng |
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