Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype

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 (CCA) not detectable by conventional m...

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Detalles Bibliográficos
Autores: Ibáñez, Mariam, Such, Esperanza, Onecha, Esther, Gómez Seguí, Inés, Liquori, Alessandro, Sellés, Jorge, Hervás Marín, David, Barragán, Eva, Neef, Alexandre, Ayala, Rosa, Llop, Marta, López Pavía, María, Rapado, Inmaculada, Sanjuan Pla, Alejandra, Sargas, Claudia, González Romero, Elisa, Boluda Navarro, Mireia, Andreu, Rafael, Senent, Leonor, Montesinos, Pau, Martínez López, Joaquín, Sanz, Miguel Ángel, Sanz, Guillermo, Cervera, José
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad Católica de Valencia San Vicente Mártir
Repositorio:RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
Idioma:inglés
OAI Identifier:oai:riucv.ucv.es:20.500.12466/3900
Acceso en línea:http://hdl.handle.net/20.500.12466/3900
Access Level:acceso abierto
Palabra clave:Acute myeloid leukemia (AML)
Hematology
Cytogenetics
3205.04 Hematología
Descripción
Sumario: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 (CCA) 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 identifcation 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.

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