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dc.creatorSargas, Claudiaes
dc.creatorAyala, Rosaes
dc.creatorLarráyoz, María Josées
dc.creatorChillón, María Carmenes
dc.creatorCarrillo-Cruz, Estrellaes
dc.creatorBilbao-Sieyro, Cristinaes
dc.creatorPérez Simón, José Antonioes
dc.creatorMontesinos, Paues
dc.date.accessioned2024-02-02T15:57:38Z
dc.date.available2024-02-02T15:57:38Z
dc.date.issued2023
dc.identifier.citationSargas, C., Ayala, R., Larráyoz, M.J., Chillón, M.C., Carrillo-Cruz, E., Bilbao-Sieyro, C.,...,Montesinos, P. (2023). Molecular landscape and validation of new genomic classification in 2668 adult AML patients: real life data from the PETHEMA registry. CANCERS, 15 (2), 438. https://doi.org/10.3390/cancers15020438.
dc.identifier.issn2072-6694es
dc.identifier.urihttps://hdl.handle.net/11441/154511
dc.description.abstractNext–Generation Sequencing (NGS) implementation to perform accurate diagnosis in acute myeloid leukemia (AML) represents a major challenge for molecular laboratories in terms of specialization, standardization, costs and logistical support. In this context, the PETHEMA cooperative group has established the first nationwide diagnostic network of seven reference laboratories to provide standardized NGS studies for AML patients. Cross–validation (CV) rounds are regularly performed to ensure the quality of NGS studies and to keep updated clinically relevant genes recommended for NGS study. The molecular characterization of 2856 samples (1631 derived from the NGS–AML project; NCT03311815) with standardized NGS of consensus genes (ABL1, ASXL1, BRAF, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1 and WT1) showed 97% of patients having at least one mutation. The mutational profile was highly variable according to moment of disease, age and sex, and several co–occurring and exclusion relations were detected. Molecular testing based on NGS allowed accurate diagnosis and reliable prognosis stratification of 954 AML patients according to new genomic classification proposed by Tazi et al. Novel molecular subgroups, such as mutated WT1 and mutations in at least two myelodysplasia–related genes, have been associated with an adverse prognosis in our cohort. In this way, the PETHEMA cooperative group efficiently provides an extensive molecular characterization for AML diagnosis and risk stratification, ensuring technical quality and equity in access to NGS studies.es
dc.formatapplication/pdfes
dc.format.extent21 p.es
dc.language.isoenges
dc.publisherMDPIes
dc.relation.ispartofCANCERS, 15 (2), 438.
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectAcute myeloid leukemiaes
dc.subjectNext–Generation Sequencinges
dc.subjectCross–validationses
dc.subjectMutational profilees
dc.subjectGenomic classificationes
dc.subjectClinical validationes
dc.titleMolecular landscape and validation of new genomic classification in 2668 adult AML patients: real life data from the PETHEMA registryes
dc.typeinfo:eu-repo/semantics/articlees
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Instituto de Biomedicina de Sevilla (IBIS)es
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Medicinaes
dc.relation.projectIDPI18/01340es
dc.relation.projectIDPI19/00730es
dc.relation.projectIDPI19/01518es
dc.relation.projectIDFI19/00059es
dc.relation.publisherversionhttps://www.mdpi.com/2072-6694/15/2/438es
dc.identifier.doi10.3390/cancers15020438es
dc.journaltitleCANCERSes
dc.publication.volumen15es
dc.publication.issue2es
dc.publication.initialPage438es
dc.contributor.funderMinisterio de Economía y Competitividades
dc.contributor.funder|Instituto de Salud Carlos III, Españaes

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