info:eu-repo/semantics/article
Una estrategia para detectar anomalías cromosómicas en niños con leucemia linfoblástica aguda. /
A Strategy to detect chromosomal abnormalities in children with acute lymphoblastic leukemia.
Registro en:
10.1097/00043426-200405000-00007
Autor
SILVIA PATRICIA PEREZ VERA
SARA FRIAS VAZQUEZ
JOSE MIGUEL BETANCOURT RULE
MARISA MUJICA SANCHEZ
ROBERTO RIVERA LUNA
ROCIO ORTIZ LOPEZ
Institución
Resumen
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 phaseofthecellcycle,increasingthenumberofanalyzablecells.The aim of this study was to develop a strategy combining these methods toimprovethefrequencyofchromosomeabnormalitydetection.One hundred children with newly diagnosed ALL were included. CC and DNA content analysis by FC were performed in all patients. The numericalabnormalitiesidentifiedbybothmethodswerecomparedand patientswereclassifiedasconcordantordiscordant.FISHwasusedto support aneuploidy results in discrepant cases using centromeric probesforthechromosomesmostfrequentlyinvolvedinaneuploidy. 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 hyperdiploidywasthemostcommonabnormality;the31casesshowing this aneuploidy were identified by FC. The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, whichisusefultoevaluatethepatient’srisk.However,itisimportant toscreenforstructuralabnormalitiesbyCCormoleculartechniques. This strategy may detect chromosomal abnormalities, optimizing resourcesinlaboratorieswherenotallthescreeningmethodsareavailable.