Morphological and genetic investigation of the index RARA-aAPL case. (A) Wright staining of BM smear. (B) Myeloperoxidase chemical staining of BM smear. (C) Karyotype 46,XX,inv(17)(p12q21) of BM sample. (D-E) Schematic diagram of the STAT3 exon 21::RARA exon 3 (D) and RARA exon 9@c.1225::LTR40a (E) splices, reported by Arriba version 2.0.1 software with NGS WTS data. (F-G) Electrophoresis result of the RT-PCR product (F), a diagram indicating primer locations (G, upper), and the Sanger sequencing results (G, lower) of the STAT3::RARA::LTR40a tripartite fusion transcript. The bottom peaks in forward Sanger sequencing are due to the minor STAT3 exon 20::RARA exon 3 splice. (H-I) STAT3 intron 21::RARA intron 2 (H) and RARA exon 9::LTR40a (I) splices at the genomic level, as revealed by NGS WGS visualized using the IGV version 2.3.92. (J) Abundant STAT3::RARA::LTR40a tandem genomic splicing fragments captured through optical genome mapping analysis. The human GRCh37 annotation reference was used to annotate gene coordinates on chromosome 17.
FigureĀ 1.

Morphological and genetic investigation of the index RARA-aAPL case. (A) Wright staining of BM smear. (B) Myeloperoxidase chemical staining of BM smear. (C) Karyotype 46,XX,inv(17)(p12q21) of BM sample. (D-E) Schematic diagram of the STAT3 exon 21::RARA exon 3 (D) and RARA exon 9@c.1225::LTR40a (E) splices, reported by Arriba version 2.0.1 software with NGS WTS data. (F-G) Electrophoresis result of the RT-PCR product (F), a diagram indicating primer locations (G, upper), and the Sanger sequencing results (G, lower) of the STAT3::RARA::LTR40a tripartite fusion transcript. The bottom peaks in forward Sanger sequencing are due to the minor STAT3 exon 20::RARA exon 3 splice. (H-I) STAT3 intron 21::RARA intron 2 (H) and RARA exon 9::LTR40a (I) splices at the genomic level, as revealed by NGS WGS visualized using the IGV version 2.3.92. (J) Abundant STAT3::RARA::LTR40a tandem genomic splicing fragments captured through optical genome mapping analysis. The human GRCh37 annotation reference was used to annotate gene coordinates on chromosome 17.

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