PMC4922057_01
Image of bone marrow aspiration (400x) showing hypercellularity with elevated level of myeloblasts, eosinophils, and basophils
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Fig1
Bone marrow aspiration analysis indicated hypercellularity with prominent eosinophilia, basophilia, and elevated level of myeloblasts (5.4 %) and promyelocytes (8 %) (Table 1 and Fig. 1).
Cytogenetic analysis of bone marrow aspiration showing a karyotype 46,xy,t (9;22) (q34;q11). A gene translocation occurred between chromosomes 9 and 22 resulting Philadelphia chromosomes at the sites as indicated with arrows
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Fig2
Bone marrow karyotype showed a phenotype of 46,XY,t (9;22) (q34;q11) [10/10] (Fig. 2).
A novel BCR-ABL1 fusion gene and its transcript in a CML case. a Diagram showing the breaking point (or fusion junction) and flanking sequences from BCR Intron 14 and ABL1 intron 2, which were identified using WGS in a NGS platform. b BCR-ABL1 cDNA sequence around the fusion junction and related chromatogram are shown. The junction is indicated with an arrow. The origins of cDNA sequences were also indicated
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Fig3
BCR-ABL1 fusion gene with novel breakpoints in the BCR intron 14 and the ABL1 intron 2, respectively (Fig. 3a). Based on this finding, we predicted that the fusion junction in the novel BCR-ABL1 fusion transcript was flanked by sequences from the BCR exon 14 (e14) and ABL1 exon 3 (a3), which were used as templates for designing customized PCR primers. Through using these primers, we conducted RT-PCR followed by Sanger sequencing and identified the corresponding BCR-ABL1 hybrid mRNA with an e14a3 junction (Fig. 3b).