PMC10311545_01
Laboratory results of the patient at diagnosis. (A) Morphologic evaluation of bone marrow (Wright-Giemsa stain, x 1000). (B) FISH results of BCR-ABL1 in bone marrow. (C) Flow cytometry results of bone marrow. R1, lymphocytes; R3, promyeloblasts; R4, total cells; R5, erythrocytoblasts; R6, monocytes. (D) Karyotype analysis results of bone marrow.
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F1
The bone marrow (BM) morphologic evaluation revealed 80.4% typical promyelocytes (Figure 1A). Bone marrow pathology analysis showed a large number of blasts in the hematopoietic tissue (Figure 1B). CD45dim, CD117, CD33, CD38, CD13, CD64 and CD15; no lymphoid antigens were expressed (Figure 1C). Cytogenetic analysis result showed an abnormal karyotype of t(15; 17) (q22; q21) (Figure 1D), and PML-RARa fusion gene was also detected in the patient's bone marrow cells.
Laboratory results of the patient at secondary ALL and gene expression curve. (A) Morphologic evaluation of bone marrow (Wright-Giemsa stain, x 1000). (B) Flow cytometry results of bone marrow. R1, lymphocytes; R2, neutrophils; R3, prolymphocytes; R4, total cells; R5, erythrocytoblasts; R6, monocytes; R7, eosinophils. (C) Karyotype analysis results of bone marrow. (D) FISH results of bone marrow. (E) Gene expression curve of the patient by RT-PCR and FISH.
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F2
Normalized PML-RARalpha/ABL1 by qRT-PCR was 100% (Figure 2E). CD45dim, CD34, CD10, CD19, CD13, CD22, CD81, CD58, HLA-DR, CD38 and cTdT, partially expressed CD33 and cCD79a, none expressed CD7, CD117, CD9, CD56, CD15, CD20, CD79b, MPO, clgM (Figure 2B). Cytogenetic studies of BM revealed a 47, XY, +der (22) t (9; 22) (q34; q11) karyotype. Fluorescence in situ hybridization (FISH) analysis (GP Medical, Beijing, China) showed that 83.5% of examined cells possessed BCR (green) and ABL1 (red) fusion signals (yellow) (Figures 2D, E). RT-PCR can also detect BCR-ABL1 p190 fusion gene (Figure 2E). RNA-sequencing results demonstrated the patient had IKZF1 gene deletion (IK6, exon4-exon7 del), EP300 (exon31:c.C5957T: p.P1986L) and JAK3 (exon11:c.G1503T:p.Q501H) mutations. After the induction chemotherapy, the patient achieved a complete hematologic response, while FISH showed that 0.1% of examined cells still expressed the BCR-ABL1 fusion signals, and molecular biology showed a considerable reduction in BCR-ABL1 (p190)/ABL1 from 100% to 0.16% (Figure 2E).