Table 1.
WHO category | Rare karyotype abnormality | Genes involved | Prognosis | Signaling pathway/mutation target | miRNA up regulation | miRNA down regulation | References |
---|---|---|---|---|---|---|---|
AML-RGA | Cryptic t(15,17,11) | PML/RARA | Favorable | PML-RARA, BAK1 | miR-378; miR-30a, b, c; let-7a-3; miR-337-3p; miR-625; miR-218; miR-27b; miR-625; miR-125B | 8-12 | |
t(12;15;17)(q24;q24;q11) | PML/RARA | Favorable | PML-RARA, BAK1 | miR-378; miR-30a, b, c;let-7a-3; miR-337-3p; miR-625; miR-218; miR-27b; miR-625; miR-125b | 9-13 | ||
Cryptic 10p12;11q23 | MLL/MLLPTD | Adverse | PBX3 | miR-30a, b, c;let-7a-3;miR-196b; miR-17h, g | miR-210; miR-23a; miR-181b;miR-495 | 10,11,14 | |
t(8;21)(q22;q22) | AML1/ETO | Favorable | RUNX1/RUNX1T1 | miR-30a, b, c;miR-378; let-7a-3; miR-223 | 9-11,15 | ||
t(8;21)(q13;q22) | Favorable | 16 | |||||
t(1;8;21)(p35;q22;q22) | AML1/ETO | Favorable | RUNX1/RUNX1T1 | miR-30a, b, c; miR-378; let-7a-3 | 9-11,17 | ||
Trisomy 6 | Favorable | 18 | |||||
t(7,11) | NUP98/HOXA | Adverse | 19 | ||||
3qJT | RPN1/EV11 | Adverse | NOTCH1, BCL2 | miR-449a | 10,20 | ||
Trisomy 21 t(1,21) | RBM15/EVI1 | Adverse | 21 | ||||
t(16;21)(q24;q22) | AML1/MTG16 | Favorable | 22 | ||||
t(8;17)(q23;q24.2), t(9;22)(p24.1;q12.2) | Unknown/BCR/ABL | Adverse | 23 | ||||
t(7;13)(p11;q34) | ABCA13/ITGBL1 | Adverse | 24 | ||||
t(4;12)(q12;p13) | ETV6/CHIC2 | Adverse | 25 | ||||
(1;3)(p36;q21) | Adverse | 26 | |||||
*i(17q) without t(15;17) | Adverse | 27 | |||||
t(7;21)(p22;q22) | RUNX1/USP42 | Favorable | 28 | ||||
inv(11)(p15q22) | NUP98/DDX10 | Favorable | 28 | ||||
t(11;17)(q23;p12) | MLL/TOP3A | Adverse | PBX3 | miR-30a, b, c; let-7a-3; miR-196b; miR-17h, g | miR-210;miR-23a; miR-181b; miR-495 | 9-11,29 | |
t(9;11)(p22;q23) | MLI/AF9 | Favorable | PBX3 | miR-30a, b, c; let-7a-3; miR-196b; miR-17h, g | miR-210; miR-23a; miR-181b; miR-495 | 9-11,30 | |
t(8;16)(p11;p13) | MYST3/CREBBP | Adverse | CREBBP | miR-218; miR-128; miR-27b; miR-15a; miR-195 | 9-11,31 | ||
Trisomy 10 | Favorable | 32 | |||||
Trisomy 11 | FLT3/NRAS | Favorable | PIM1/NRAS | let-7a-3; miR-378; miR-337-3p, miR-625; miR-155; miR-181a, b, d; miR-193a-3p; miR-411; let-7a, b, d, f, g, l | miR-34b | 9-12,33 | |
t(15;17) and t(8;21) | PML-RARA/ | Favorable | RUNX1/RUNX1T1, BAK1, PML-RARA | miR-30a, b, c; miR-378; let-7a-3; miR-337-3p, | miR-16 | 9-12,33 | |
AML-MRC | t (3, 5) | NPM1/MLF1 | Favorable | E2F3/KLF4, RB1CC1/MN1, CLCN3, CRKL/IRF2, KIT/SERPINB9 | miR-378; let-7a-3-M; miR10a; miR15a; miR-20a; miR-29a | miR-34a | 9-12,34 |
Tetrasomy 5q | Favorable | 35 | |||||
dic(1;15)(p11;p11) | CEP1/CEP15 | Adverse | 36 | ||||
Trisomy 14q | FLT3-ITD/KRAS | Adverse | PIMI/KRAS | miR-378; let-7a-3; miR-155; miR-181a, b, d; miR-193a-3p; miR-411 | miR-16 | 9-12,37 | |
t-AML | t (9,22) (q34;q11.2) (mixed phenotype) | Favorable | 38 | ||||
de1 7q(q22q34), 20q (q11.2q13.1), inv(16))(p13.1;q22) inv(12)(p13;q13) | Adverse | miR-30a, b, c | 39,13 | ||||
ETV6(TEL) | Adverse | 40 | |||||
t(11;18)(q13;q21.1) | MLLPTD | Adverse | PBX3 | miR-378; let-7a-3 | miR-210; miR-23a; miR-181b; miR-495 | 9-11,40 | |
t(1;16)(p31;q24) | CBFA2T3/RUNX1 | Adverse | 41 | ||||
AML-NOS | Cryptic 7q31.1 | DOCK4/FLT3-ITD | Favorable | PIM1 | miR-378; let-7a-3 | miR-16 | 9-11,42 |
Cryptic 7q22.1 | CUX1 | Favorable | 42 | ||||
NUP98/NSD1 | Adverse | 43 | |||||
FAM65A/CTCF | Adverse | ||||||
KIAA1267/ARL17 | Adverse | ||||||
BC041636/GGCT | Adverse | ||||||
CRNKL1/NAA20 | Adverse | 44 | |||||
R3HDM2/INHBC | Adverse | ||||||
ABHD16A/LY6G5C | Adverse | ||||||
HSPA14/SUV39H2 | Adverse | ||||||
t(4;16)(q25;q23.1) | EGF/ELOVL6 | Adverse |
PML/RARA, promyelocytic leukemia gene/retinoic acid receptor α; BAK1, BCL2-antagonist/killer 1; MLL/MLLTPD, mixed-lineage leukemia/partial tandem duplication; PBX3, pre-B-cell leukemia homeobox 3; AML1/ETO, acute myeloid leukemia 1 protein/eight-twenty one oncoprotein; RUNX1/RUNX1T1, Runt-related transcription factor 1; NUP98//HOXA, nucleoporin 98 gene/homeobox protein-A; RPN1/EVI1, ribophorin I/ecotropic viral integration-1; NOTCH1, Notch (Drosophila) homolog 1; BCL2, B-cell lymphoma 2; RBM15, RNA binding motif protein 15; MTG16, myeloid translocation gene 16; BCR/ABL, breakpoint cluster region/"Abelson; ABCA13/ITGBL1, ATP-binding cassette, sub-family A (ABC1)/integrin, β-like 1 (with EGF-like repeat domains); ETV6/CHIC2, Ets variant 6/cysteine-rich hydrophobic domain 2; USP42, ubiquitin specific peptidase 42; DDX10, DEAD (Asp-Glu-Ala-Asp) box polypeptide 10; TOP3A, topoisomerase (DNA) III α; AF9, ALLl-fused gene from chromosome 9; MYST3/CREBBP, MYST histone acetyltransferase (monocytic leukemia) 3/CREB binding protein; FLT3/NRAS, Fms-related tyrosine kinase 3/neuroblastoma RAS viral (V-Ras) oncogene homolog; PIM1, Pim-1 oncogene; MLF1, myeloid leukemia factor 1; E2F3, E2F transcription factor 3; KLF4, Kruppel-like factor 4; RB1CC1, RB1-inducible coiled-coil 1; MN1, meningioma (disrupted in balanced translocation) 1; CLCN3, chloride channel, voltage-sensitive 3; CRKL,V-Crk avian sarcoma virus CT10 oncogene homolog-like; IRF2, interferon regulatory factor 2; SERPINB9, serpin peptidase inhibitor, clade B (Ovalbumin), member 9; CEP1/CEP15, C. elegans p53-like protein 1,15; KRAS, Kirsten rat sarcomaviral oncogene homolog; CBFA2T3, core-binding factor, runt domain, α subunit 2; DOCK4, dedicator of cytokinesis 4; cux-1, cut-like homeobox 1; NSD1, nuclear receptor binding set domain protein 1; FAM65A, family with sequence similarity 65, member A; CTCF, CCCTC-binding factor (zinc finger protein); KIAA1267, KAT8 regulatory NSL complex subunit 1; ARL17, ADP-ribosylation factor-like 17B; GGCT, γ-glutamylcyclotransferase; CRNKL1, Crooked neck pre-MRNA splicing factor 1; NAA20N(α)-acetyltransferase 20, NatB catalytic subunit; R3HDM2, R3H domain containing 2; INHBC, inhibin, β C; ABHD16A, abhydrolase domain containing 16A; LY6G5C, lymphocyte antigen 6 complex, locus G5C; HSPA14, heat shock 70kDa protein 14; SUV39H2, suppressor of variegation 3-9 homolog 2 (Drosophila); EGF, epidermal growth factor; ELOVL6, ELOVL fatty acid elongase 6; AML-RGA, acute myeloid leukemia with recurrent genetic abnormalities; AML-MRC, acute myeloid leukemia with myelodysplasia-related changes; t-AML, therapy-related acute myeloid leukemia; AML-NOS, acute myeloid leukemia with normal karyotype or nonspecific karyotype abnormalities.
*Isochromosome.