BLOOD RESEARCH

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Fig. 1.

Diagram of the histopathologic, cytogenetic, and molecular genetic tools for comprehensive evaluation of diagnosis, classification and prognosis in myelodysplastic syndrome. (A) Dyserythropoiesis (a) and dysmegakaryopoiesis and dysgranulopoiesis (b) in bone marrow aspirate smears (Wright Giemsa stain ×1,000). (B) Conventional cytogenetics showing a 45,XX,del(5)(q22q35),-7,der(17)t(7;17)(p12;p11.2),-8,der(11) t(8;11)(q11.2;p11.2),+mar karyotype. (C) Fluorescence in situ hybridization detecting the deletion of the long arm of chromosome 20 with one orange signal using LSI D20S108 probe (target locus on 20q12) and two green signals using CEP 8 probe (target locus on 8p11.1-q11.1) (Abbott Molecular, Abbott Park, IL, USA). (D) Representative single nucleotide polymorphism arrays (SNP-A) analysis of loss of heterozygosity (LOH), uniparental disomy (UPD) and gain lesions. The first and top track shows LOH (red brackets), the second track shows copy number for each SNP (blue brackets) and the third track shows the genotype calls (purple brackets). Allele calls are: AA, AB, BB are indicated. Vertical lines indicate each region of the genome. (E) Chromatogram of Sanger sequencing showing the forward sequencing of SF3B1 exon 15 illustrating the most frequent missense mutation (AAA>GAA;K700E; c.2098 G>A).

Blood Res 2014;49:216~227 https://doi.org/10.5045/br.2014.49.4.216
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