Identifying an APL with STRN3-RARA translocation. (A) BM smear of the WCH01 patient before treatment. Scale bar, 10 μm. (B) Flow cytometry analysis of the WCH01 patient’s BM cells before treatment. The expression of CD13, CD33, CD117, CD34, and HLA-DR is shown. The numbers indicate the percentage of different cell populations. (C) Gene Set Enrichment Analysis (GSEA) showing the positive enrichment of the APL_PML_RARA gene set in the WCH01 patient, compared with normal gene sets (NES = 2.47; P = .00). (D) Cytogenetics analysis of the WCH01 patient’s BM cells before treatment. The karyotype analysis of the WCH01 patient reveals the following abnormalities: 45, XY, add(6)(q13), der(14)t(14,17)(q12;q21) dup(17)(q21q25), −16, −17, add(18)(p11), der(19)t(15;19)(q22;p13.3), add(21)(p11), +mar, inc[20]. The red arrow highlights the t(14,17) chromosome translocation. (E) The circular plot showing an overview of the top 10 fusion events between locations in chromosomes. (F) Schematic representation and Sanger sequencing of the STRN3-RARA fusion. The yellow blocks represent exons of the STRN3 gene (NM_014574.3), and the green blocks represent exons of the RARA gene (NM_000964.3). Numbers in the blocks indicate the exon number. The Sanger sequencing at the breakpoint site is shown at the bottom. (G) Sanger sequencing of the UTX locus obtained from the polymerase chain reaction product of the WCH01 patient. (H) Percentage of blast cells in the WCH01 patient’s bone marrow during treatment. The blocks indicate the drug treatments administered during the period. DA, daunorubicin and cytarabine; HA, homoharringtonine and cytarabine; NES, normalized enrichment score; Ven, venetoclax.

Identifying an APL with STRN3-RARA translocation. (A) BM smear of the WCH01 patient before treatment. Scale bar, 10 μm. (B) Flow cytometry analysis of the WCH01 patient’s BM cells before treatment. The expression of CD13, CD33, CD117, CD34, and HLA-DR is shown. The numbers indicate the percentage of different cell populations. (C) Gene Set Enrichment Analysis (GSEA) showing the positive enrichment of the APL_PML_RARA gene set in the WCH01 patient, compared with normal gene sets (NES = 2.47; P = .00). (D) Cytogenetics analysis of the WCH01 patient’s BM cells before treatment. The karyotype analysis of the WCH01 patient reveals the following abnormalities: 45, XY, add(6)(q13), der(14)t(14,17)(q12;q21) dup(17)(q21q25), −16, −17, add(18)(p11), der(19)t(15;19)(q22;p13.3), add(21)(p11), +mar, inc[20]. The red arrow highlights the t(14,17) chromosome translocation. (E) The circular plot showing an overview of the top 10 fusion events between locations in chromosomes. (F) Schematic representation and Sanger sequencing of the STRN3-RARA fusion. The yellow blocks represent exons of the STRN3 gene (NM_014574.3), and the green blocks represent exons of the RARA gene (NM_000964.3). Numbers in the blocks indicate the exon number. The Sanger sequencing at the breakpoint site is shown at the bottom. (G) Sanger sequencing of the UTX locus obtained from the polymerase chain reaction product of the WCH01 patient. (H) Percentage of blast cells in the WCH01 patient’s bone marrow during treatment. The blocks indicate the drug treatments administered during the period. DA, daunorubicin and cytarabine; HA, homoharringtonine and cytarabine; NES, normalized enrichment score; Ven, venetoclax.

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