dc.creator | Sargas, Claudia | es |
dc.creator | Ayala, Rosa | es |
dc.creator | Larráyoz, María José | es |
dc.creator | Chillón, María Carmen | es |
dc.creator | Carrillo-Cruz, Estrella | es |
dc.creator | Bilbao-Sieyro, Cristina | es |
dc.creator | Pérez Simón, José Antonio | es |
dc.creator | Montesinos, Pau | es |
dc.date.accessioned | 2024-02-02T15:57:38Z | |
dc.date.available | 2024-02-02T15:57:38Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Sargas, 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.issn | 2072-6694 | es |
dc.identifier.uri | https://hdl.handle.net/11441/154511 | |
dc.description.abstract | Next–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.format | application/pdf | es |
dc.format.extent | 21 p. | es |
dc.language.iso | eng | es |
dc.publisher | MDPI | es |
dc.relation.ispartof | CANCERS, 15 (2), 438. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Acute myeloid leukemia | es |
dc.subject | Next–Generation Sequencing | es |
dc.subject | Cross–validations | es |
dc.subject | Mutational profile | es |
dc.subject | Genomic classification | es |
dc.subject | Clinical validation | es |
dc.title | Molecular landscape and validation of new genomic classification in 2668 adult AML patients: real life data from the PETHEMA registry | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Instituto de Biomedicina de Sevilla (IBIS) | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.projectID | PI18/01340 | es |
dc.relation.projectID | PI19/00730 | es |
dc.relation.projectID | PI19/01518 | es |
dc.relation.projectID | FI19/00059 | es |
dc.relation.publisherversion | https://www.mdpi.com/2072-6694/15/2/438 | es |
dc.identifier.doi | 10.3390/cancers15020438 | es |
dc.journaltitle | CANCERS | es |
dc.publication.volumen | 15 | es |
dc.publication.issue | 2 | es |
dc.publication.initialPage | 438 | es |
dc.contributor.funder | Ministerio de Economía y Competitividad | es |
dc.contributor.funder | |Instituto de Salud Carlos III, España | es |