Table 1 The clinical and genetic feature of typical and variant APL
From: Current views on the genetic landscape and management of variant acute promyelocytic leukemia
| Fusion genes | Typical karyotype | Cases (N) | Diagnosis | ATRA | ATO | Chemo | Combia | Prognosis (OS, alive/dead) | Reference |
|---|---|---|---|---|---|---|---|---|---|
| RARA rearrangement | |||||||||
| PML-RARA | t(15;17)(q22;q21) | 98% of total | Typical APL | S | S | S | S | 10-year-survival rate: > 90% | [2,3,4] |
| PLZF-RARA | t(11;17)(11q23;q21) | 1% of total | Variant APL | R | R | S | S | 1-year-survival rate: < 40% | [110, 120] |
| NPM1-RARA | t(5;17)(5q35;q21) | 9 | S | ND | U | S | 18 (0.2–58) mo, 8/1 | [44] | |
| NUMA-RARA | t(11;17)(q13;q21) | 1 | S | ND | ND | ND | 38 mo, 1/0 | [54] | |
| STAT5B-RARA | t(17;17)(q21;q21) | 17 | R | R | S | S | 10 (0.1–53) mo, 7/7; NA, 3 | [121] | |
| PRKAR1A-RARA | t(17;17)(q21;q24) | 1 | U | U | U | S | 24 mo, 1/0 | [74] | |
| BCOR-RARA | t(X;17)(p11;q21) | 2 | R | R | S | S | 26.5 (12–41) mo, 2/0 | [76, 77] | |
| FIP1L1-RARA | t(4;17)(q12;q21) | 2 | S | ND | ND | ND | 0.3 mo, 0/1; NA, 1 | [78, 79] | |
| OBFC2A-RARA | t(2;17)(q32;q21) | 1 | U | ND | S | S | 15 mo, 1/0 | [82] | |
| TBLR1-RARA | t(3;17)(q26;q21) | 4 | R | S | S | S | 9 mo, 1/0; NA, 3 | [83] | |
| GTF2I-RARA | t(7;17)(q11;q21) | 1 | R | R | R | R | 5 mo, 0/1 | [84] | |
| IRF2BP2-RARA | t(1;17)(q42;q21) | 6 | S | ND | U | S | 12 (2–28) mo, 2/3; NA, 1 | [89] | |
| FNDC3B-RARA | t(3;17)(q26;q21) | 1 | U | ND | S | S | 1 mo, 1/0 | [91] | |
| STAT3-RARA | t(17;17)(q21;q21) | 2 | R | R | S | ND | 32 (7–57) mo, 0/2 | [92] | |
| TFG-RARA | t(3;14;17)(q12;q11;q21) | 1 | S | ND | ND | S | 3 mo, 1/0 | [93] | |
| NUP98-RARA | NA | 1 | U | ND | S | ND | 44 mo, 1/0 | [94] | |
| TNRC18-RARA | NA | 1 | R | R | S | ND | 9 mo, 1/0 | [95] | |
| RARB rearrangement | |||||||||
| TBLR1-RARB | t(3;3)(q24;q26)/inv.(3) | 5 | Variant APL | R | ND | S | ND | 73 (30–108) mo, 4/1 | [20, 96, 97] |
| RARG rearrangement | |||||||||
| NUP98-RARG | t(11;12)(p15;q13) | 5 | Variant APL | R | R | S | ND | 12.5 (0.3–24) mo, 1/3; NA, 1 | [98, 100,101,102,103,104] |
| PML-RARG | t(12;15)(q13;q22) | 1 | R | ND | S | ND | NA | [105] | |
| CPSF6-RARG | t(12;12)(q13;q15) | 7 | R | R | S | ND | 9.5 (0.5–33) mo, 2/4; NA, 1 | [20, 106,107,108,109,110,111] | |
| NPM1-RARG-NPM1 | NA | 1 | R | R | ND | ND | 8 mo, 0/1 | [112] | |
| HNRNPC-RARG | NA | 1 | R | U | S | ND | 13 mo, 0/1 | [113] | |
| Non-RAR rearrangement | |||||||||
| ELL-MLL/MLL-ELL | t(11;19)(q23;p13.3) | 2 | Variant APL | ND | ND | ND | S | 170 mo, 1/0; NA, 1 | [20, 115] |
| MLL-AF1Q | t(1;11)(q21;q23) | 1 | ND | ND | ND | S | 34 mo, 1/0 | [20] | |
| RPRD2-MLL | t(1;11)(q21;q23) | 1 | ND | ND | ND | S | 34 mo, 1/0 | [20] | |
| NPM1-CCDC28A | NA | 1 | ND | ND | ND | S | 54 mo, 1/0 | [20] | |
| TBC1D15-RAB21 | NA | 1 | ND | ND | ND | S | 56 mo, 1/0 | [20] | |
| EZH2D185H | Not specific | 1 | ND | ND | R | ND | 4 mo, 0/1 | [119] | |