Abstract
BackgroundAcute 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.Result155 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.ConclusionThe results demonstrate the usefulness of high resolution array-CGH as a complementary tool in the investigation of ALL.
Highlights
Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes
The results demonstrate the usefulness of high resolution array-CGH as a complementary tool in the investigation of acute lymphoblastic leukemia (ALL)
The ETV6/RUNX1 fusion gene was reported in 19% of the Malaysian childhood ALL [3]
Summary
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. In childhood B-cell precursor acute lymphoblastic leukemia (ALL), t(12;21)(p13;q22) translocation is the most common chromosomal abnormality and occurs in 20-25% of the cases [1]. This reciprocal translocation, which has a favorable prognosis of more than 80%, leads to the formation of the ETV6/RUNX1 ( known as TEL/AML1) fusion gene [1,2]. Complementary techniques to conventional cytogenetics such as fluorescence in situ hybridization (FISH), and reverse transcriptase - polymerase chain reaction (RT-PCR) can be used as screening tools for ETV6/ RUNX1-positive patients [8]. FISH study is useful to identify specific translocation, but it is limited to the type of
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