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  • 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.
    Author: Xu W, Lu X, Kim Y, Luo Y, Martin M, Mulvihill JJ, Li S.
    Journal: Cancer Genet Cytogenet; 2008 Aug; 185(1):43-6. PubMed ID: 18656693.
    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.
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