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Genomic patterns associated with hypoplastic compared to hyperplastic myelodysplastic syndromes

Year: 2015

Type: article

Abstract: Genomic patterns associated with hypoplastic compared to hyperplastic myelodysplastic syndromesWhile the bone marrow in most patients with myelodysplastic syndromes (MDS) has normal or increased cellularity (hyper-MDS), approximately 10%-15% of MDS patients will present with a hypocellular bone marrow (hypo-MDS). 1 Since the diagnosis of MDS relies mainly on the presence of dyplastic morphology of myeloid precursors and/or the presence of recurrent chromosomal abnormalities, low cellularity aspirates in patients with hypo-MDS may compromise morphologic evaluation and karyotypic analyses, and ultimately contribute to difficulties in distinguishing hypo-MDS from other bone marrow failure syndromes.Further, approximately 50% of MDS patients, including those with hypo-MDS, have normal karyotype by metaphase cytogenetics (MC), which makes the distinction even more difficult. 2e previously reported that single nucleotide polymorphism (SNP) array karyotyping can improve the detection of chromosomal lesions that can distinguish hypo-MDS patients from those with aplastic anemia (AA). 3This finding suggests that clonal abnormalities can be detected in haematologica 2015;

Source: Haematologica

DOI: 10.3324/haematol.2015.130112