Metaphase cytogenetics and single nucleotide polymorphism arrays in myeloid malignancies

Silva, Fernanda Borges da; Traina, Fabı́ola

doi:10.1016/j.bjhh.2015.01.007

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…During the past several decades, a series of techniques have been developed for detecting chromosomal aberrations in MDS, including metaphase cytogenetics (MC), fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), single nucleotide polymorphism arrays (SNP-A) genotyping, array-based comparative genomic hybridization (a-CGH), and targeted DNA sequencing. The advent of these techniques has contributed to the investigation of chromosomal changes in MDS, including unbalanced chromosomal deletions and gains as well as balanced translocations [ 16 ]. The chromosomal findings will enhance our understanding of the pathogenesis of MDS.…”

Section: Introductionmentioning

confidence: 99%

Techniques for detecting chromosomal aberrations in myelodysplastic syndromes

et al. 2017

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Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS. In this review, we will introduce some common chromosomal aberrations in MDS and their clinical significance. Then we will explain the application, advantages, and limitations of different techniques for detecting chromosomal abnormalities in MDS. The information in this review may be helpful for clinicians to select appropriate methods in patient-related decision making.

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Section: Introductionmentioning

confidence: 99%