High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival

Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance

“…30 A deletion spanning at least a segment between PLANH1/SERPINE and CUTL1/CUX1 was described in an apparently balanced translocation t(7;7)(p13;q22) 31 and maps to the deleted segment in the patients described here. Deletions with similar breakpoints were described in two patients with refractory anemia 6 and in two patients with chronic myelomonocytic leukemia. 32 Taken together, this del(7q22) with similar deletion end points seems to be a frequent recurrent hidden aberration.…”

“…5 A BAC aCGH study using CD34 þ cells from 44 low-risk MDS patients (IPSS p1) included 25 cytogenetically normal cases. 6 This aCGH analysis uncovered hidden aberrations in the cytogenetically normal cases, but confirmed only 11 of 16 cytogenetically visible aberrations. These authors divided the patients into two groups based on the presence of a total of p3 Mb genomic aberrations (TGA) or 43 Mb TGA.…”

“…A separate analysis of the 25 cytogenetically normal cases also showed a significant difference in overall survival in the group with 43 Mb TGA, although the numbers are still small. 6 Using oligonucleotide aCGH on MDS/AML with a 5q-syndrome or del(5) as the sole cytogenetic abnormality, we have described the presence of additional hidden aberrations in 2/12 patients. 7 With single-nucleotide polymorphism (SNP) arrays, copy number alterations as well as loss of heterozygosity through uniparental disomy (UPD) can be detected.…”

Expression and prognostic significance of microRNAs in Korean patients with myelodysplastic syndrome

“…Only miRNAs that were identified by more than one study from Tables 2 and 3 alterations when analyzed by high-resolution DNA arrays. [49][50][51] Therefore, cytogenetic alterations are likely a major contributor of altered miRNA expression. It is well established that genomic regions containing sequence alterations and fragile sites in solid tumors are enriched with miRNAs.…”

“…Over 50% of MDS patients exhibit large copy-number gains and losses. [49][50][51] Recently, it has been shown that many of the MDS patients with a purported normal karyotype also have cryptic genomic Figure 1 Overview of miRNA contribution to features of MDS. An overview of key cellular, clinical and morphological features of MDS (highlighted in red font to the left and right of the figure) as relating to HSC, hematopoietic progenitors, erythroid cells (Eryth), megakaryocytes (Mk), and white blood cells (WBCs).…”