Progress of Clinical Application of SNP-A to MDS--Review / 中国实验血液学杂志

ABSTRACT

Cytogenetic abnormalities get wide attention for its guidance value for prognosis and therapy in myelodysplastic syndrome (MDS) and related malignancies. Cytogenetic analysis is also the key to clarify the molecular pathogenesis of these kinds of diseases. The traditional karyotyping technique including metaphase cytogenetic (MC) karyotype analysis and immune fluorescence in situ hybridization (FISH) can detect the chromosomal abnormalities to some degree while the positive rate detected by the techniques is low due to the low resolution, dependence on metaphase dividing cells or the limitation of specific sites on the chromosomes, respectively. Although array comparative genomic hybridization (aCGH) makes up for some deficiencies of the techniques above, only copy number variations (CNVs) could be detected by aCGH. Recently, single nucleotide polymorphasim array (SNP-A) are employed to detect chromosomal CNVs and uniparental disomies (UPDs) which are significant for illumination of the pathogenetics and prognosis of MDS. Based on the detection principle and characteristics of SNP-A, this article reviews the clinical application and prospect of the technique in aspect of the detection characteristic of SNP-A, the relationship between cryptic aberrations and MDS related aspects including the pathogenic genes, phenotypes, prognosis, stratification system and self control test.