PMC5735078_01
Representations of different genomic alterations identified by CHOP Comprehensive Hematological Cancer Panel. (A) a PAX2-JAK2 fusion detected in an 11-month-old patient with residual/recurrent B-cell lymphoblastic leukemia. Double arrowed line indicates exon 5 of PAX2 is fused to exon 19 of JAK2, gray area indicates reading depth, red and blue horizontal bars are representative reads. (B) Copy number analysis using next-generation sequencing data from a patient with iAMP ALL. (B-1) Copy number variations analysis based on reading depth; red arrow indicates four copies of RUNX1 genomic region. (B-2) B-allele frequency analysis demonstrating SNP separation due to triplication of one allele; red arrows indicate genotype information of AAAB and ABBB (the genotype would be AABB if it were duplication of both allele). (B-3) FISH showing two ETV6 signals (green) and 4 RUNX1 signals (red). (C) IGV view showing a FLT3 ITD in an 11-year-old patient with acute myeloid leukemia.
fped-05-00263-g001.jpg
PMC5735078_02_fped-05-00263-g001.jpg
F1
FLT3 internal tandem duplication (FLT3 ITD) (Figure 1C) along with two other somatic variants, IDH2 p.R140Q and GATA2 p.W10*. FLT3 ITD is often missed by NGS-based assays due to the size of the duplications.
PMC5735078_02
Representations of different genomic alterations identified by CHOP Comprehensive Hematological Cancer Panel. (A) a PAX2-JAK2 fusion detected in an 11-month-old patient with residual/recurrent B-cell lymphoblastic leukemia. Double arrowed line indicates exon 5 of PAX2 is fused to exon 19 of JAK2, gray area indicates reading depth, red and blue horizontal bars are representative reads. (B) Copy number analysis using next-generation sequencing data from a patient with iAMP ALL. (B-1) Copy number variations analysis based on reading depth; red arrow indicates four copies of RUNX1 genomic region. (B-2) B-allele frequency analysis demonstrating SNP separation due to triplication of one allele; red arrows indicate genotype information of AAAB and ABBB (the genotype would be AABB if it were duplication of both allele). (B-3) FISH showing two ETV6 signals (green) and 4 RUNX1 signals (red). (C) IGV view showing a FLT3 ITD in an 11-year-old patient with acute myeloid leukemia.
fped-05-00263-g001.jpg
PMC5735078_02_fped-05-00263-g001.jpg
F1
FLT3 internal tandem duplication (FLT3 ITD) (Figure 1C) along with two other somatic variants, IDH2 p.R140Q and GATA2 p.W10*. FLT3 ITD is often missed by NGS-based assays due to the size of the duplications.
PMC5735078_03
PMC5735078_04
A novel GOLGA5-JAK2 fusion was identified in an 11-year-old boy with very high-risk acute lymphoblastic leukemia. (A) Schematic representation of protein domains of the GOLGA5-JAK2 fusion protein. (B) Sanger confirmation of the GOLGA5-JAK2 fusion. The red arrow indicates the breakpoint of the fusion transcript. (C) Gel electrophoresis of nested polymerase chain reaction (PCR) products from the diagnostic bone marrow sample; F1R1:PCR product of inner forward and reverse primers; F2R2:PCR product of outer forward and reverse primers.
fped-05-00263-g002.jpg
PMC5735078_04_fped-05-00263-g002.jpg
F2
Genomic analysis on a diagnostic bone marrow from an 11-year-old boy with very high-risk ALL and induction failure showed a novel GOLGA5-JAK2 fusion, indicating a Ph-like B-ALL (Figure 2).