PMID- 15111781 OWN - NLM STAT- MEDLINE DCOM- 20040615 LR - 20190917 IS - 1077-4114 (Print) IS - 1077-4114 (Linking) VI - 26 IP - 5 DP - 2004 May TI - A strategy to detect chromosomal abnormalities in children with acute lymphoblastic leukemia. PG - 294-300 AB - Conventional cytogenetics (CC) can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia (ALL). The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry (FC) and fluorescence in situ hybridization (FISH) can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells. The aim of this study was to develop a strategy combining these methods to improve the frequency of chromosome abnormality detection. One hundred children with newly diagnosed ALL were included. CC and DNA content analysis by FC were performed in all patients. The numerical abnormalities identified by both methods were compared and patients were classified as concordant or discordant. FISH was used to support aneuploidy results in discrepant cases using centromeric probes for the chromosomes most frequently involved in aneuploidy. CC and FC showed high concordance (86%). Fourteen cases were discrepant: nine showed hypodiploidy and low hyperdiploidy by cytogenetics and five showed high hyperdiploidy by FC. FISH confirmed aneuploidy in 12 cases in which it could be performed. High hyperdiploidy was the most common abnormality; the 31 cases showing this aneuploidy were identified by FC. The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, which is useful to evaluate the patient's risk. However, it is important to screen for structural abnormalities by CC or molecular techniques. This strategy may detect chromosomal abnormalities, optimizing resources in laboratories where not all the screening methods are available. FAU - Perez-Vera, Patricia AU - Perez-Vera P AD - Departamento de Investigacion en Genetica Humana, Instituto Nacional de Pediatria, Mexico. ppverezvera@yahoo.com FAU - Frias, Sara AU - Frias S FAU - Carnevale, Alessandra AU - Carnevale A FAU - Betancourt, Miguel AU - Betancourt M FAU - Mujica, Marisa AU - Mujica M FAU - Rivera-Luna, Roberto AU - Rivera-Luna R FAU - Ortiz, Rocio AU - Ortiz R LA - eng PT - Journal Article PL - United States TA - J Pediatr Hematol Oncol JT - Journal of pediatric hematology/oncology JID - 9505928 SB - IM MH - Adolescent MH - Age Factors MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Cytogenetic Analysis MH - Female MH - Flow Cytometry MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Infant, Newborn MH - Karyotyping MH - Male MH - Methods MH - Molecular Diagnostic Techniques/*methods MH - Ploidies MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/classification/diagnosis/*genetics MH - Prognosis EDAT- 2004/04/28 05:00 MHDA- 2004/06/16 05:00 CRDT- 2004/04/28 05:00 PHST- 2004/04/28 05:00 [pubmed] PHST- 2004/06/16 05:00 [medline] PHST- 2004/04/28 05:00 [entrez] AID - 00043426-200405000-00007 [pii] AID - 10.1097/00043426-200405000-00007 [doi] PST - ppublish SO - J Pediatr Hematol Oncol. 2004 May;26(5):294-300. doi: 10.1097/00043426-200405000-00007.