case_images: PMC11719716_01
case_images: Alterations identified using OGM and NGS. (A) Circos plot showing chromoplexy between chromosomes 9, 16, and 18; chromothripsis of chromosome 21; deletions on chromosomes 7, 13, 20, and 22; and trisomy of X. An ALL-directed filter was applied to show clinically relevant variants in this disease. (B) 13q12.2 deletion juxtaposing FLT3 and PAN3. (C) CNVs identified by NGS (Allseq) and MLPA (P335 and P327). (D) Schematic representation of the WWOX::PAX5 fusion identified using NGS (Archer PanHeme). (E) Relative expression of FLT3 quantified using NGS; the second column shows patient's expression, while the first, third, and fourth columns belong to healthy controls. (F) Relative expression (>90-fold) of FLT3 compared to 30 healthy controls quantified using RT-qPCR.
case_images: ijms-26-00357-g001.jpg
case_images: PMC11719716_01_ijms-26-00357-g001.jpg
case_images: ijms-26-00357-f001
case_images: Technologies, Santa Clara, CA, USA), containing more than 40,000 probes along the genome, revealed a terminal 21q22 microdeletion (arr[GRCh37] 21q22.3(43,688,594_48,093,361)x1) affecting at least 55 genes (Figure S1). The karyotype in peripheral blood showed a ring chromosome 21: 46,XX,r(21)c (Supplementary Materials). The latter two alterations were further confirmed using RT-PCR (Figure 1; Supplementary Materials).