case_images: PMC10311545_01
case_images: 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.
case_images: fphar-14-1141311-g001.jpg
case_images: PMC10311545_01_fphar-14-1141311-g001.jpg
case_images: F1
case_images: 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.
case_images: 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.
case_images: fphar-14-1141311-g002.jpg
case_images: PMC10311545_01_fphar-14-1141311-g002.jpg
case_images: F2
case_images: 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).