Oligo-based High-resolution aCGH Analysis Enhances Routine Cytogenetic Diagnostics in Haematological Malignancies

• Published in: Cancer genomics & proteomics Vol. 12; no. 6; pp. 301 - 337
• Main Author: Kjeldsen, Eigil
• Format: Journal Article
• Language: English
• Published: Greece 01.11.2015
• Subjects: Adult; Aged; Aged, 80 and over; Chromosome Aberrations; Chromosome Banding; Comparative Genomic Hybridization; Cytogenetics - methods; Female; Gene Rearrangement; Hematologic Neoplasms - diagnosis; Hematologic Neoplasms - genetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Leukemia, Myeloid, Acute - diagnosis; Leukemia, Myeloid, Acute - genetics; Male; Middle Aged; Oligonucleotide Array Sequence Analysis; Prospective Studies; Retrospective Studies; FISH; Haematological malignancy; karyotyping; aCGH; chromothripsis
• ISSN: 1109-6535; 1790-6245

The purpose of the present study was to evaluate the detection rate of genomic aberrations in haematological malignancies using oligobased array-CGH (oaCGH) analysis in combination with karyotyping and fluorescence in situ hybridization (FISH) analyses, and its feasibility in a clinical pragmatic approach. The 4x180K Cancer Cytochip array was applied in 96 patients with various haematological malignancies in a prospective setting and in 41 acute myeloid leukemia (AML) patients retrospectively. Combined use of oaCGH analysis and karyotyping improved the overall detection rate in comparison to karyotyping-alone and vice versa. In cases with normal karyotypes oaCGH analysis detected genomic aberrations in 66% (39/60) of cases. In the group of simple karyotypes oaCGH analysis extended karyotypic findings in 39% (12/31) while oaCGH analysis extended the karyotypic findings in 89% (39/44) of cases with complex karyotypes. In 7% (5/75) of cases oaCGH analysis failed in detecting the observed abnormalities by karyotyping. oaCGH analysis is a valuable asset in routine cytogenetics of haematological malignancies.