Demographic characteristics, genomic data, and gene fusion information of RARA-aAPL cases
UPN . | Sex . | Age (y) . | Methods . | 5′ fusion partner . | RARA . | 3′ fusion partner . | Reference . |
---|---|---|---|---|---|---|---|
A1∗ | Female | 35 | WTS; WGS; OGM | STAT3 exon 1_21 | RARA exon 3_9@c.1225 | LTR40a | |
A2 | Female | 45 | WGS | STAT3 exon 1_21 | RARA exon 3_9@c.1215 | L1MC4 | |
A3 | Male | 24 | WGS | STAT3 exon 1_21 | RARA exon 3_9@c.1205 | AluSp | 14 |
A4 | Male | 26 | WTS; WGS | STAT3 exon 1_23 | RARA exon 3_9@c.1203 | MIRb | 14 |
A5 | Male | 50 | WTS | STAT5B exon 1_15 | RARA exon 3_9@c.1239 | AluJo | |
A6 | Male | 46 | WTS; WGS | STAT5B exon 1_15 | RARA exon 3_9@c.1227 | HUMUT5218 | |
A7 | Male | 47 | NGS-targeted | STAT5B exon 1_15 | RARA exon 3_9@c.1224 | MIRb-AluSc | 16 |
A8 | Male | 32 | WGS | STAT5B exon 1_15 | RARA exon 3_9@c.1176 | AluSx4 | |
A9 | Male | 34 | WTS | THRAP3 exon 1_2 | RARA exon 3_9@c.1238 | THRAP3 exon 6_12 | 25 |
A10 | Female | 29 | WTS | HNRNPC exon 1_3 | RARA 3_8 | HNRNPCP2 | 20 |
A11 | Male | 41 | WTS | HNRNPC exon 1_3 | RARA 3_8 | HNRNPC exon 4_9 | 21 |
A12 | Female | 4 | WTS | FIP1L1 exon 1_13 | RARA exon 3_9 | None | 19 |
A13 | Male | 31 | WTS | GTF2I exon 1_19 | RARA exon 3_9 | None | |
A14 | Female | 51 | WTS | IRF2BP1 exon 1@c.322 | RARA exon 3_9 | None | 7 |
A15 | Male | 66 | WGS | IRF2BP2 exon 1@c.1000 | RARA exon 3_9 | None | 23 |
A16 | Male | 60 | WTS | IRF2BP2 exon 1@c.1000 | RARA exon 3_9 | None | 24 |
A17 | Male | 60 | WTS | TNRC18 exon 1_5 | RARA exon 3_9 | None | |
A18 | Male | 50 | WTS | TNRC18 exon 1_5 | RARA exon 3_9 | None | 26 |
A19 | Female | 6 | WTS | TTMV-ORF2 c.1_209 | RARA exon 3_9 | None | 9 |
A20 | Male | 3 | WTS | TTMV-ORF2 c.1_328 | RARA exon 3_9 | None | 9 |
A21 | Male | 3 | WTS; WGS | TTMV-ORF2 c.1_215 | RARA exon 3_9 | None | 10 |
A22 | Female | 11 | WTS; WGS | TTMV-ORF2 c.1_413 | RARA exon 3_9 | None | 11 |
A23 | Male | 7 | WTS; WGS | TTMV-ORF2 c.1_217 | RARA exon 3_9 | None | 13 |
A24 | Male | 35 | WTS | TTMV-ORF2 c.1_189 | RARA exon 3_9 | None | |
A25 | Male | 9 | WTS; WGS | TTMV-ORF2 c.1_213 | RARA exon 3_9 | None | 12 |
A26 | Male | 15 | WTS; WGS | TTMV-ORF2 c.1_226 | RARA exon 3_9 | None | |
A27 | Female | 5 | WTS; WGS | TTMV-ORF2 c.1_175 | RARA exon 3_9 | None |
UPN . | Sex . | Age (y) . | Methods . | 5′ fusion partner . | RARA . | 3′ fusion partner . | Reference . |
---|---|---|---|---|---|---|---|
A1∗ | Female | 35 | WTS; WGS; OGM | STAT3 exon 1_21 | RARA exon 3_9@c.1225 | LTR40a | |
A2 | Female | 45 | WGS | STAT3 exon 1_21 | RARA exon 3_9@c.1215 | L1MC4 | |
A3 | Male | 24 | WGS | STAT3 exon 1_21 | RARA exon 3_9@c.1205 | AluSp | 14 |
A4 | Male | 26 | WTS; WGS | STAT3 exon 1_23 | RARA exon 3_9@c.1203 | MIRb | 14 |
A5 | Male | 50 | WTS | STAT5B exon 1_15 | RARA exon 3_9@c.1239 | AluJo | |
A6 | Male | 46 | WTS; WGS | STAT5B exon 1_15 | RARA exon 3_9@c.1227 | HUMUT5218 | |
A7 | Male | 47 | NGS-targeted | STAT5B exon 1_15 | RARA exon 3_9@c.1224 | MIRb-AluSc | 16 |
A8 | Male | 32 | WGS | STAT5B exon 1_15 | RARA exon 3_9@c.1176 | AluSx4 | |
A9 | Male | 34 | WTS | THRAP3 exon 1_2 | RARA exon 3_9@c.1238 | THRAP3 exon 6_12 | 25 |
A10 | Female | 29 | WTS | HNRNPC exon 1_3 | RARA 3_8 | HNRNPCP2 | 20 |
A11 | Male | 41 | WTS | HNRNPC exon 1_3 | RARA 3_8 | HNRNPC exon 4_9 | 21 |
A12 | Female | 4 | WTS | FIP1L1 exon 1_13 | RARA exon 3_9 | None | 19 |
A13 | Male | 31 | WTS | GTF2I exon 1_19 | RARA exon 3_9 | None | |
A14 | Female | 51 | WTS | IRF2BP1 exon 1@c.322 | RARA exon 3_9 | None | 7 |
A15 | Male | 66 | WGS | IRF2BP2 exon 1@c.1000 | RARA exon 3_9 | None | 23 |
A16 | Male | 60 | WTS | IRF2BP2 exon 1@c.1000 | RARA exon 3_9 | None | 24 |
A17 | Male | 60 | WTS | TNRC18 exon 1_5 | RARA exon 3_9 | None | |
A18 | Male | 50 | WTS | TNRC18 exon 1_5 | RARA exon 3_9 | None | 26 |
A19 | Female | 6 | WTS | TTMV-ORF2 c.1_209 | RARA exon 3_9 | None | 9 |
A20 | Male | 3 | WTS | TTMV-ORF2 c.1_328 | RARA exon 3_9 | None | 9 |
A21 | Male | 3 | WTS; WGS | TTMV-ORF2 c.1_215 | RARA exon 3_9 | None | 10 |
A22 | Female | 11 | WTS; WGS | TTMV-ORF2 c.1_413 | RARA exon 3_9 | None | 11 |
A23 | Male | 7 | WTS; WGS | TTMV-ORF2 c.1_217 | RARA exon 3_9 | None | 13 |
A24 | Male | 35 | WTS | TTMV-ORF2 c.1_189 | RARA exon 3_9 | None | |
A25 | Male | 9 | WTS; WGS | TTMV-ORF2 c.1_213 | RARA exon 3_9 | None | 12 |
A26 | Male | 15 | WTS; WGS | TTMV-ORF2 c.1_226 | RARA exon 3_9 | None | |
A27 | Female | 5 | WTS; WGS | TTMV-ORF2 c.1_175 | RARA exon 3_9 | None |
OGM, optical genome mapping; UPN, unique patient number.
The index case.