GenArray: uncovering novel and recurrent chromosomal alterations with diagnostic and prognostic value in hematological malignancies

Abstract

Traditional cytogenetic techniques such as chromosome analysis and FISH have provided valuable genetic information for the evaluation of hematological malignancies. However, many genomic abnormalities remain undetected due to the limitations intrinsic to these techniques. Recently, the introduction of DNA array-based technologies has enabled the identification of previously undetected copy number changes with an increased resolution and sensitivity and a more precise determination of genomic break points and gene content. We have designed, validated and clinically applied a combined targeted-whole genome custom oligonucleotide microarray for the evaluation of hematological malignancies. The use of this technology not only allowed us to confirm genetic alterations identified by chromosome analysis or FISH, but also enabled the detection of novel genomic imbalances with important diagnostic and prognostic value in myeloid, lymphoid and plasma cell disorders. Several copy number alterations were observed in karyotypically normal patients allowing the discovery of potential tumor suppressor genes or oncogenes important in the pathogenesis of several hematological neoplasms such as myelodysplastic syndrome, multiple myeloma and chronic lymphocytic lymphoma. Our work also emphasizes the importance of incorporating this technology into current algorithms for the diagnosis of cancer. Highlights from the second annual Cancer Cytogenomics Microarray Consortium (CCMC) meetingCancer GeneticsVol. 204Issue 8PreviewCancer Genetics is privileged to publish the abstracts from the second annual meeting of the Cancer Cytogenomics Microarray Consortium (CCMC) held August 8th and 9th, 2011 in Chicago, Illinois. Full-Text PDF