Genetic changes including gene copy number alterations and their relation to prognosis in childhood acute myeloid leukemia
Armengol Rosell, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Canellas, Anna (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Álvarez, Yolanda (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Bastida, Pilar (Hospital Universitari Vall d'Hebron)
Toledo, José Sánchez De (Hospital Universitari Vall d'Hebron)
Pérez-Iribarne, Maria Del Mar (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Camós, Mireia (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Tuset, Esperanza (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Estella, Jesús (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Coll, María Dolores (Universitat Autònoma de Barcelona)
Caballín, María Rosa (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Knuutila, Sakari (University of Helsinki)

Date:	2010
Abstract:	We studied a series of 68 subjects diagnosed with childhood acute myeloid leukemia (AML) using conventional cytogenetics and fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to analyze mutations in FLT3 and NPM1 genes, and/or array comparative genomic hybridization (CGH). Cytogenetic/FISH abnormalities were observed in 71% of subjects, FLT3-ITD mutations in 15%, and NPM1 mutations in 13%. The array CGH alterations (average 3. 6 per case) were observed in 96% of the tested subjects. The most frequent alterations were gains of 8q24. 3 and 11p15. 5-p15. 4 in 16% of the samples. Six genes (AKT1, RUNX1, LTB, SDC1, RUNX1T1, and JAK2) from the imbalanced regions have been reported to be involved in AML, whereas other 30 cancer genes, not previously reported in an AML context, were identified as imbalanced. They probably correspond to non passenger alterations that cooperate with the recurrent translocations. The clinical data and genetic changes were tested to find out the possible association with prognosis. Genomic instability (four or more genomic imbalances) was correlated with poor patient outcome (p=0. 029).
Grants:	Agència de Gestió d'Ajuts Universitaris i de Recerca 2005/SGR-00164 Ministerio de Sanidad y Consumo RD060020/1020
Rights:	Aquest material està protegit per drets d'autor i/o drets afins. Podeu utilitzar aquest material en funció del que permet la legislació de drets d'autor i drets afins d'aplicació al vostre cas. Per a d'altres usos heu d'obtenir permís del(s) titular(s) de drets.
Language:	Anglès
Document:	Article ; recerca ; Versió acceptada per publicar
Subject:	Array CGH ; Childhood AML ; Cytogenetics ; Genetic mutations ; Genomic imbalances ; Prognosis
Published in:	Leukemia and Lymphoma, Vol. 51 Núm. 1 (January 2010) , p. 114-124, ISSN 1029-2403

DOI: 10.3109/10428190903350397

Postprint 32 p, 731.3 KB

The record appears in these collections:
Articles > Research articles
Articles > Published articles