Portal de investigación
Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Onecha, E
- Ayala, R
- Lopez-Pavia, M
- Rapado, I
- Martinez-Lopez, J
Grupos
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 2045-2322, 2045-2322
- Tipo:
- Article
- Páginas:
- 5904-5904
- PubMed:
- 32246042
- Factor de Impacto:
- 1,240 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
SCIENTIFIC REPORTS NATURE PUBLISHING GROUP
Citas Recibidas en Web of Science: 12
Documentos
- No hay documentos
Filiaciones
Campos de Estudio
Cita
IBANEZ M,SUCH E,Onecha E,GOMEZ I,LIQUORI A,SELLES J,HERVAS D,BARRAGAN E,Ayala R,LLOP M,Lopez M,Rapado I,NEEF A,SANJUAN A,SARGAS C,GONZALEZ E,BOLUDA M,ANDREU R,SENENT L,MONTESINOS P,Martinez J,SANZ MA,SANZ G,CERVERA J. Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype. Sci. Rep. 2020. 10. (1):p. 5904-5904. IF:4,380. (1).