Ibáñez Company, MariamSuch Taboada, EsperanzaOnecha de la Fuente, EstherGómez Seguí, InésLiquori, AlessandroSellés Martínez, Jorge JuanUCH. Departamento de Ciencias BiomédicasProducción Científica UCH 20202021-06-112021-06-112020-04-03Ibáñez, M., Such, E., Onecha, E., Gómez-Seguí, I., Liquori, A., Sellés, J. et al. (2020). Analysis of SNP array abnormalities in patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype. Scientific Reports, vol. 10, art. 5904 (03 apr.). DOI: https://doi.org/10.1038/s41598-020-61589-92045-2322 (Electrónico).http://hdl.handle.net/10637/12780Este artículo se encuentra disponible en la siguiente URL: https://www.nature.com/articles/s41598-020-61589-9.pdfEn este artículo también participan: David Hervás-Marín, Eva Barragán, Rosa Ayala, Marta LLop, María López-Pavía, Inmaculada Rapado, Alex Neef, Alejandra Sanjuan-Pla, Claudia Sargas, Elisa Gonzalez-Romero, Mireia Boluda-Navarro, Rafa Andreu, Leonor Senent, Pau Montesinos, Joaquín Martínez-López, Miguel Angel Sanz, Guillermo Sanz y José Cervera.Nearly 50% of patients with de novo acute myeloid leukemia (AML) harbor an apparently normal karyotype (NK) by conventional cytogenetic techniques showing a very heterogeneous prognosis. This could be related to the presence of cryptic cytogenetic abnormalities (CC A) not detectable by conventional methods. The study of copy number alterations (CNA) and loss of heterozygozity (LOH) in hematological malignancies is possible using a high resolution SNP-array. Recently, in clinical practice the karyotype study has been complemented with the identification of point mutations in an increasing number of genes. We analyzed 252 de novo NK-AML patients from Hospital La Fe (n = 44) and from previously reported cohorts (n = 208) to identify CCA by SNP-array, and to integrate the analysis of CCA with molecular alterations detected by Next-Generation-sequencing. CCA were detected in 58% of patients. In addition, 49% of them harbored CNA or LOH and point mutations, simultaneously. Patients were grouped in 3 sets by their abnormalities: patients carrying several CCA simultaneously, patients with mutations in FLT3, NPM1 and/or DNMT3A and patients with an amalgam of mutations. We found a negative correlation between the number of CCA and the outcome of the patients. This study outlines that CCA are present in up to 50% of NK-AML patients and have a negative impact on the outcome. CCA may contribute to the heterogeneous prognosis.application/pdfenopen accessMacaques - Behavior.Leucemia mieloide aguda.Acute myeloid leukemia.Citogenética.Hematology.Hematología.Blood - Diseases - Genetic aspects.Sangre - Enfermedades - Aspectos genéticos.Cytogenetics.Artículohttps://doi.org/10.1038/s41598-020-61589-9https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es