PMC9467828_01
Morphological and genetic analysis. (A) Blasts on a peripheral blood smear (Wright-Giemsa stain, 1,000x). (B) Agarose gel electrophoresis of the reverse transcription (RT)-PCR product showing the e1a2 (p190) BCR-ABL1 transcript (HemaVision kit; DNA-Diagnostic, Risskov, Denmark). (C) STIL-TAL1 fusion detected using an RNA fusion panel (FusionPlex Pan-Heme Panel; ArcherDX, Boulder, CO, USA). (D) RT-PCR using cDNA and subsequent (E) Sanger sequencing confirmed breakpoints in exons 1 and 3 of STIL and TAL1, respectively.. Abbreviations: NTC, non-template control; PC, positive control.
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F1
Peripheral blood smear showed 89% blasts (Fig. 1A). Reverse transcription (RT)-PCR using total RNA isolated from WBCs (HemaVision kit; DNA-Diagnostic, Risskov, Denmark) revealed an e1a2 rearrangement (Fig. 1B). RT-PCR (Ipsogen BCR-ABL1 mbcr kit; Qiagen, Hilden, Germany) revealed a BCR-ABL1-to-ABL1 transcript ratio of 6.11x10-4. RNA fusion panel (FusionPlex Pan-Heme Panel, ArcherDX, CO, USA) detected a STIL-TAL1 rearrangement (Fig. 1C). To confirm the STIL-TAL1 transcript, RT-PCR and direct sequencing were performed (Fig. 1D, E).
Flow cytometry findings of the patient. Abnormal leukemic cells highlighted in red (55.0% of total cells) exhibited a CD2+, cCD3+, CD3+,dim, CD5+, CD7+, CD8+,dim, CD34-, nTdT-, and CD1a- phenotype at diagnosis.. Abbreviations: cCD3, cytoplasmic CD3; SS, side scatter.
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F2
Flow cytometry showed an abnormal leukemic population, consistent with T-ALL/LBL (Fig. 2).