Addition of chromosomal microarray and next generation sequencing to FISH and classical cytogenetics enhances genomic profiling of myeloid malignancies

Publication date: Available online 14 August 2017 Source:Cancer Genetics Author(s): S Mukherjee, M Sathanoori, Z Ma, M Andreatta, PA Lennon, SR Wheeler, JL Prescott, C Coldren, T Casey, H Rietz, K Fasig, R Woodford, T Hartley, D Spence, W Donnelan, J Berdeja, I Flinn, N Kozyr, M Bouzyk, M Correll, H Ho, V Kravtsov, D Tunnel, P Chandra Comprehensive genetic profiling is increasingly important for the clinical workup of hematologic tumors, as specific alterations are now linked to diagnostic characterization, prognostic stratification and therapy selection. To maximally characterize relevant genetic and genomic alterations in myeloid malignancies, we utilized a comprehensive strategy spanning fluorescence in situ hybridization (FISH), classical karyotyping, Chromosomal Microarray (CMA) for detection of copy number variants (CNVs) and Next generation Sequencing (NGS) analysis. In our cohort of 569 patients spanning the myeloid spectrum, NGS and CMA testing frequently identified mutations and copy number changes in the majority of genes with important clinical associations, such as TP53, TET2, RUNX1, SRSF2, APC and ATM. Most importantly, NGS and CMA uncovered medically actionable aberrations in 75.6% of cases normal by FISH/cytogenetics testing. NGS identified mutations in 65.5% of samples normal by CMA, cytogenetics and FISH, whereas CNVs were detected in 10.1% cases that were normal by all other methodologies. Finally, FISH or cytogenetics, or both, we...
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research