title: Deletion of 14q24.1 approximately q24.3 in a patient with acute lymphoblastic leukemia: a hidden chromosomal anomaly detected by array-based comparative genomic hybridization.
abstract: A 4-year-old patient, who was newly diagnosed with acute lymphoblastic leukemia (ALL), was referred to us for cytogenetic evaluation. He had a normal karyotype by G-banded chromosome analysis, and a deletion of the ETV6 (alias TEL) gene was determined by fluorescence in situ hybridization analysis using DNA probes specific for t(12;21), which leads to ETV6/RUNX1 (alias TEL/AML1) gene fusion, but no translocation was found between the two genes. To find out if there were possibly additional subtle chromosomal changes undetectable by routine cytogenetics, high-density 385K oligo array comparative genomic hybridization (CGH) assay was performed. Besides the confirmation of the 12p deletion, a deletion of a 12-megabase (Mb) chromosomal segment on 14q24.1 approximately q24.3 was also detected. Within the deleted 12-Mb region, there were a total of 155 genes and at least 28 of these were cancer-related genes. A similar approach by array CGH in patients with ALL, especially in those patients with 12p deletion, could help to determine the significance of this rare event.
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA.
authors.forename: Weihong
authors.initials: W
authors.lastname: Xu
authors.forename: Xianglan
authors.initials: X
authors.lastname: Lu
authors.forename: YoungMi
authors.initials: Y
authors.lastname: Kim
authors.forename: Ying
authors.initials: Y
authors.lastname: Luo
authors.forename: Mallory
authors.initials: M
authors.lastname: Martin
authors.forename: John J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D012074:Remission Induction