Table 1.
Disease | CNVs/CNAs and/or Associated Genes | LOH/UPD and/or Associated Genes | Prognostic Association | Ref. |
---|---|---|---|---|
B-ALL | Deletion of PAX5, EBF1, TCF3, LEF1, IKZF1 (IKAROS), IKZF3 (AIOLOS), ETV6, and CDKN2A/p16INK4A | 9p (CDKN2A/B) | - | [26,27,28,29,35] |
T-ALL | Deletion of TAL1, RB1, PTEN, CDKN2A, CDKN2B, LEF1, and STIL; Gains of MYB | 9p (CDKN2A) | - | [32] |
AML | Deletion of 3p14.1–p13 (FOXP1, RYBP, FHIT), 6q27 (RPS6KA2), 8q23.3 (TRPS1), 10q11.21 (HNRPF), 11q25, 12p13.2 (ETV6), 15q21.3 (RFXDC2), 5q31.1 (CTNNA1), 16q22.1 (CBFB), 17p13.1 (TP53), 17q11.2 (NF1) | 13q (FLT3), 11p (WT1, PU1) and 11q (MLL), 19q (CEBPA), 6p and 21q (RUNX1) | Worse prognosis: ≥2 genomic lesions detected by SNP array | [42,43,44,45,47,48,49] |
Amplifications of 8q23.2 (MYC), 11q23.3 (MLL), and 21q22.2 (ETS2) | ||||
MDS | Deletion and aUPD of chromosomes 1, 5q, 7, 11, 17, and 21 | Worse prognosis: UPDs of 7q; New genetic lesions detected by SNP array; EZH2 mutations | [57,58,60,61,62,63,64] | |
Deletion of EZH2 and TET2 | ||||
UPD 20p (BMP2 and TRIB3) | ||||
CML | Frequent amplifications in chronic phase | 1, 8, 9, 17, 19, and 22 in TKI-resistant CML | - | [66,67] |
Deletion of IKFZ1 in lymphoid blast phase | ||||
MPN | Rare in ET and PV | 9p (JAK2) | Worse prognosis: CNN-LOH on 7q or 9p (JAK2 V617F); Genetic aberrations of chromosome 5, 7, or 17p | [68,69,70,73,74] |
Deletion of 13q14 (RB) or 17q11 (NF1) in PMF | ||||
CMML | Frequent microdeletions | 7q (EZH2), 11q (CBL), and 4q (TET2) | Worse prognosis: Multiple chromosomal defects detected by SNP array | [75,76] |
cHL | Gain of MAP3K14 | 14q (TRAF3) | - | [79] |
DLBCL | Frequent gains and deletions; gains HDAC7A on chromosome 12 predominantly in GCB-DLBCL, losses of BACH2 and CASP8AP2 on chromosome 6 predominantly in ABC-DLBCL; Potential tumor suppressor genes: CASP3, IL5RA ARID1B, ROBO2 and MRS1; Potential oncogenes: KLHL6, IL31 and LRP1 | 11p11.2 (PTPRJ), | Worse prognosis: Loss of 8p23.1 | [81,82,83,84] |
FL | CDKN2A, CDKN2B, FHIT, KIT, PEX14, and PTPRD | 1p36 (TNFRSF14), 6p, 6q, 9p (CDKN2A), 10q, 12q, 16p, and 17p (TP53) | Worse prognosis: >3 SNP abnormalities; aUPD and deletion of 1p36, aUPD of 16p | [85,86] |
CLL | Deletion of 17p13 (TP53), 11q22 (ATM) and 13q14 (DLEU1 and DLEU2), 2p16.1–2p15, 8q24.21, 6q21 (AIM1) | 13q, 13 (miR-15a/miR-16-1), 17p, and 11q | Worse prognosis: Genomic complexity; large genomic aberrations; large (type II) 13q14 deletions | [91,92,93,101] |
Gain of 12, 2p16 (REL, BCL11A) | ||||
MCL | Deletion of INK4A/ARF, ATM, TP53, 1p, 6q, CDKN2C, BCL2L11, CDKN2A, and RB1, FAF1, MAP2, SP100, MOBKL2B, ZNF280A, and PRAME. | 9p, 9, 17p (TP53) | - | [104,105] |
Amplification of MYC, 11q13(cyclin D1), 13q (miR17-92, C13 or f25), dup(3q), 18q (BCL2) | ||||
MZL | Deletion of 6q23 (TNFAIP3, A20), 9p | 6q (A20), 3q | - | [106,107,108] |
Gain of 3, 18, 6p and 21q | ||||
Gains of REL, BCL11A, ETS1, PTPN1, PTEN and KRAS in transformation to DLBCL | ||||
BL | Losses of 6q14.1–q22.33, 9p21.3 (CDKN2A), and 13q14.2–q14.3 | 6p12.2-pter, 9p23-pter, and 17p11.2-pter (TP53). | - | [109] |
Gains of 1q23.3–q31.3, 7, 13q31.3, | ||||
MM | Genomic alterations at 1p, 1q, 6q, 8p, 13, and 16q | 1q, 16q (CYLD), and X | Worse prognosis: Amplifications in 1q and deletions in 1p, 12p, 14q, 16q, and 22q | [111,112,115,116,117] |
PTCL, NOS | Losses of 1p35-36, 3q, 5q33, 6p22, 6q16, 6q21–22, 8p21–23, 9p21, 10p11–12, 10q11-22, 10q25–26, 13q14, 15q24, 16q22, 16q24, 17p11, 17p13 and Xp22 | 2q32.3 | - | [120,121] |
Gains of 1q32–43, 2p15–16 (REL), 7, 8q24, 11q14–25, 17q11–21 and 21q11–21, 9p and 19q | ||||
AILT | Loss of 3q and 9p | 2q32.3 | Worse prognosis: The presence of CNAs; overexpression of CARMA1 at 7p22 and MYCBP2 at 13q22 | [121] |
Gains of 8q, 9p and 19q | ||||
ATLL | Deletion of 10p11.2 ( TCF8) | - | - | [122] |
T-PLL | Loss in 6q, 8p, 10p, 11q (microRNA 34b/c, ETS1 and FLI1), and 18p and Gains of 6p, 8q | 3q, 17q | - | [124,125] |
Aberrations in 5p, 12p, 13q, 17 and 22 (DNAH5, ETV6, miR-15a and miR-16-1, p53, BIRC5, and SOCS3) | ||||
SS | Loss at 4q35 (FAT), 4q34 (VEGFC), 12 (NFIB), and 17p11.2 (TRIM16) | 9q31q34, 10p11q26, and 13q11q12 | - | [126] |
CNV, copy number variations; CAN, copy number aberrations; LOH, loss of heterozygosity; UPD, uniparental disomy; Ref, reference; B-ALL, B lymphoblastic leukemia; T-ALL, T lymphoblastic leukemia; AML, acute myeloid leukemia; MDS, myelodysplastic syndrome; CML, chronic myelogenous leukemia; MPN, myeloproliferative neoplasm; PV, polycythemia (Rubra) vera; ET, essential thrombocythemia; PMF, primary myelofibrosis; CMML, chronic myelomonocytic leukemia; cHL, classical Hodgkin lymphoma; DLBCL, diffuse large B-cell lymphoma; FL, follicular lymphoma; CLL, chronic lymphocytic leukemia; MCL, mantle cell lymphoma; MZL, marginal zone lymphoma; BL, Burkitt lymphoma; MM, multiple myeloma; PTCL, NOS, peripheral T-cell lymphoma, NOS; AILT, angioimmunoblastic T-cell lymphoma; ATLL, adult T-cell leukemia/lymphoma; T-PLL, T-cell prolymphocytic leukemia; SS, Sezary syndrome.