Detection of alterations at bands 19p13.2 and 17q12 by aCGH. (A) Alignment of aCGH profiles at chromosome 17q12 from 3 patients (3, 14, and 33) and 1 human MDS cell line (MDS-L). (B) Relative expression of TBC1D3 mRNA in MDS marrow samples from patients with (n = 4) and without (n = 9) amplification at band 17q12, as well as normal controls (n = 6) by quantitative reverse-transcribed polymerase chain reaction. (C) aCGH profile of the MDS cell line (MDS-L) at chromosome 17q12 showing position of the BAC clones used for FISH analysis of the MDS-L cell line (left). The average number of copies per cell (and proportion of total cells) as detected is tabulated (middle), and FISH analysis using BAC probes RP11-72I20 (red, within region of interest) and RP11-686E5 (green, outside region of interest) is shown on a representative cell (right). (D) Alignment at chromosome 17q, 19p, and 5q is shown to compare matched CD34⁺ and CD3⁺ profiles from 3 MDS patients (3, 14, and 33). Alterations at chromosomes 19p (patient 3) and 5q (patients 14 and 33) are within known polymorphic (CNV) regions and are used as an internal control. (E) Deletion encompassing the EPO receptor (EPOR) at chromosome 19p13.2 is seen in 3 patients (33, 40, and 44). Approximate boundaries of the EPO receptor locus and a CNV are highlighted. Vertical lines denote log₂ signal ratios from −1 (green) to + 1 (red). Green shading delineates the borders of a deletion. Red shading delineates the borders of an amplification. (F) Erythroid progenitor colony assays were performed at the time of diagnosis. Comparison of CFU-E and BFU-E progenitor colony assays is shown for MDS patients with deletion of the EPOR locus (del EPOR; n = 3) and patients with a diploid EPOR locus (dip EPOR; n = 41).