Detection of cytogenetic alterations in MDS patients. (A) Cytogenetic results obtained by karyotype at diagnosis. (B) Detection of cytogenetic alterations by conventional karyotype, FISH, CMA, and NGS. Two cases presented alterations not covered by the NGS panel (patients 1 and 2). 9 of 12 (75%) remaining cases with altered karyotype/FISH (patients 3-14 in the figure) were detected by NGS. Patient 10 presented a 5q− detected in a few metaphases and confirmed by FISH, and patients 11 and 12 presented a +8 detected by karyotype in few metaphases. In patient 13, +8 and +21 alterations were detected by NGS, whereas chromosome 14 was not covered by the design of the NGS panel. In patient 14, 5q− was the only alteration detected by both CMA and NGS because of sensitivity limitations. In a patient without analyzable metaphases (patient 15), 20q− was found by NGS and confirmed by CMA.