PMID- 20001230 OWN - NLM STAT- MEDLINE DCOM- 20100402 LR - 20211203 IS - 1029-2403 (Electronic) IS - 1026-8022 (Linking) VI - 51 IP - 1 DP - 2010 Jan TI - Genetic changes including gene copy number alterations and their relation to prognosis in childhood acute myeloid leukemia. PG - 114-24 LID - 10.3109/10428190903350397 [doi] AB - 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). FAU - Armengol, Gemma AU - Armengol G AD - Unit of Biological Anthropology, Department of Animal Biology, Plant Biology and Ecology, Faculty of Biosciences, Universitat Autonoma de Barcelona, Barcelona, Spain. gemma.armengol@uab.cat FAU - Canellas, Anna AU - Canellas A FAU - Alvarez, Yolanda AU - Alvarez Y FAU - Bastida, Pilar AU - Bastida P FAU - Toledo, Jose Sanchez De AU - Toledo JS FAU - Perez-Iribarne, Maria Del Mar AU - Perez-Iribarne Mdel M FAU - Camos, Mireia AU - Camos M FAU - Tuset, Esperanza AU - Tuset E FAU - Estella, Jesus AU - Estella J FAU - Coll, Maria Dolores AU - Coll MD FAU - Caballin, Maria Rosa AU - Caballin MR FAU - Knuutila, Sakari AU - Knuutila S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Leuk Lymphoma JT - Leukemia & lymphoma JID - 9007422 SB - IM MH - Adolescent MH - Bone Marrow Cells/cytology MH - Child MH - Child, Preschool MH - Cytogenetics MH - Female MH - *Gene Dosage MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Infant, Newborn MH - Karyotyping MH - Leukemia, Myeloid, Acute/diagnosis/*genetics/therapy MH - Male MH - *Mutation MH - Nucleophosmin MH - Polymerase Chain Reaction MH - Prognosis MH - Translocation, Genetic EDAT- 2009/12/17 06:00 MHDA- 2010/04/03 06:00 CRDT- 2009/12/17 06:00 PHST- 2009/12/17 06:00 [entrez] PHST- 2009/12/17 06:00 [pubmed] PHST- 2010/04/03 06:00 [medline] AID - 10.3109/10428190903350397 [doi] PST - ppublish SO - Leuk Lymphoma. 2010 Jan;51(1):114-24. doi: 10.3109/10428190903350397.