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Background  Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;21) translocation in childhood ALL patients. A high resolution 244K array-based Comparative Genomic Hybridization (array-CGH) was used to study eleven  ETV6/RUNX1 -positive childhood acute lymphoblastic leukemia (ALL) patients.    Result  155 chromosomal aberrations (119 losses, 36 gains) were reported in the array findings, corresponding to 76.8% deletions and 23.2% amplifications. The  ETV6  gene deletion occurred in 4 of the patients, corresponding to 45% of the sample. The most common alterations above 1 Mb were deletion 6q (13%), 12p (12%) and 9p (8%), and duplication 4q (6%) and Xq (4%). Other genes important in ALL were also identified in this study including  RUNX1, CDKN2A, FHIT , and  PAX5 . The array-CGH technique was able to detect microdeletion as small as 400 bp.    Conclusion  The results demonstrate the usefulness of high resolution array-CGH as a complementary tool in the investigation of ALL.

molecular cytogenetics

Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization