MDS, MDS/MPN and MPN Tables: Recurrent Genomic Alterations Detected by Chromosomal Microarray

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Table 1 - Evidence for the Clinical Utility of Chromosomal Microarray (CMA) Testing in Myeloid Disorders Excluding Acute Myeloid Leukemia (Literature Review). Table derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics.

Disease Overall CMA detection rate Key and unique

CMA aberrations

Altered

gene(s)

Impact References
MDS 28-83%

(Normal karyotype only: 11-39%)

Total genomic alteration Prognostic poor survival [1][2][3][4][5]
1p CN-LOH Prognostic for progression to AML [6][7][8][9][10]
1q gain Recurrent [6][11][12][10]
4q loss TET2 Prognostic for poor survival [6][11][13][14][15]
4q CN-LOH TET2 Prognostic for poor survival [16][6][17][11][12][3][8][18][19][20][21]
5q loss 5q loss “size” prognostic for progression to AML [6][22][11][1][23][24][10][25]
7q loss CUX1, EZH2 Prognostic for poor survival [6][22][26][12][27][28][19][9][20][29][30][10][31][25]
7q CN-LOH Recurrent [16][6][11][7][12][8][5][32][21]
11q CN-LOH CBL Prognostic/ recurrent [16][6][22][7] [3][8][20][10]
12p loss ETV6 Recurrent [6][17][12][27][15]
13q loss ?RB1 Recurrent [6][11][27][3][10]
17p loss TP53 Recurrent [6][12][33][15][30]
17p CN-LOH TP53 Diagnostic for advanced MDS/sAML [11][12][3][8][28]
20q loss Recurrent [6][9][34][35][30][31][25]
21q CN-LOH or deletion RUNX1 Prognostic for progression to AML [6][26][27][15][9][32]
MDS/MPN 73%/NA 4q CN-LOH TET2 Recurrent [16][36][13][20][35]
7q CN-LOH Likely CUX1 Recurrent [16][36][8][9][20]
11q CN-LOH CBL Recurrent [16][36][13][8][37]
MPN >56%/NA 1q gain Recurrent [38][39]
4q loss TET2 Prognostic for progression to AML [14][40]
9p CN-LOH JAK2 Predictive for JAK2 inhibitors; Prognostic for PV progression to MF [41][37][41][39][42]
14q CN-LOH Presence of CNAs/CN-LOH prognostic for progression to AML [41][39][9]
20q loss Recurrent [41][43]
CML 21-24%/NA 17p loss TP53 Recurrent, progression, associated with TKI resistance [44][45]
2q CN-LOH Diagnostic (only seen in BC) [45]
8p CN-LOH Diagnostic (only seen in BC) [45]
BMFS 19% (AA) 6p CN-LOH ?HLA genes Recurrent [46][29][47]

AA, Aplastic anemia; BMFS, Bone Marrow Failure Syndrome; MDS, Myelodysplastic Syndrome; MDS/MPN, Myelodysplastic/ myeloproliferative Neoplasm; MPN, Myeloproliferative Neoplasm; CML, Chronic Myelogeneous Leukemia; sAML, secondary AML; TGA, Total genomic aberration; TKI, tyrosine kinase inhibitors.

∗Recurrent indicates recurrent aberration with no established prognostic significance


Table 2 - A Comprehensive List of Copy Number Aberrations and CN-LOH of Known or Likely Clinical Significance in MDS Detected by CMA Testing (Literature Review). Table derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics.

Chromosome Disease Abnormality Type (Gain, Loss, CN-LOH) Region Relevant Genes (if known) Clinical Significance* Level of Evidence References
1 MDS Gain 1p36.33-p33 MPL Recurrent 3

[22][6][34]

1 MDS CN-LOH 1p MPL Recurrent 2 [6][7][8][9]
1 MDS Gain 1q Recurrent 2 [6][11][12][10]
2 MDS CN-LOH 2pter-2p13.3 DNMT3A Recurrent 2 [6][24][20][48]
3 MDS CN-LOH 3q21.3-qter MECOM, GATA2 Recurrent 3 [6][17][49][3][9]
4 MDS Loss 4q24 TET2 T*** 2 [6][26][11][13][14][27][15]
4 MDS CN-LOH 4q12-qter TET2 Recurrent 2 [16][6][17][11][50][12][8][18][19][20][21]
5 MDS Gain 5p Suggestive of i(5p) with 5q del Recurrent 3 [6]
5 MDS Loss 5q RPS14 D, P (Good when isolated) 1 [6][22][17][26][49][11][1][12][23][33][3][28][51][19][5][34][24][20][35][30][10][25][52]
7 MDS Loss 7q EZH2, CUX1 D, P (Intermediate) 1 [6][22][26][49][1][12][27][33][28][19][5][9][29][30][10][25]
7 MDS CN-LOH 7q21.11-qter EZH2, CUX1 Recurrent 2 [16][6][17][49][11][7][12][8][5][32][21]
7 MDS Loss (Monosomy) 7 Whole Chromosome D, P (Poor) 1 [33][28][19][20][29][30][10][31][25]
8 MDS Gain (Trisomy) 8 Whole Chromosome P (Intermediate)** 1 [6][11][12][33][15][5][9][34][53][29][30][25]
9 MDS Gain 9p JAK2 Recurrent 3 [6][12][15]
9 MDS CN-LOH 9pter-p24.2 JAK2 Recurrent 2 [6][2][3]
11 MDS Loss 11q14.1-q24.3 CBL D, P (Very Good) 1 [6][34]
11 MDS CN-LOH 11q13.3-qter CBL Recurrent 2 [16][6][22][7][3][8][20][10][31]
11 MDS Gain (Trisomy and q-arm) 11 / 11q CBL Recurrent 3 [6][17][1][12][20]
12 MDS Loss 12p ETV6 D, P (Good) 1 [6][17][12][27][15]
12 MDS CN-LOH 12pter-p11.23 ETV6 Recurrent 2 [3][20]
13 MDS Loss 13q RB1 D, P (Intermediate) 2 [6][11][3][10]
13 MDS CN-LOH 13q12.3-qter FLT3, RB1 Recurrent 3 [6][8][20]
13 MDS Gain (Trisomy) 13 Whole Chromosome Recurrent 3 [6]
14 MDS CN-LOH 14q24.2-qter CHGA Recurrent 3 [6][22][7][50][8]
16 MDS Loss (Monosomy and q-arm) 16 / 16q CDH1 Recurrent 3 [6][15][10]
16 MDS CN-LOH 16q22.1-qter CDH1 Recurrent 3 [6][32]
17 MDS Loss 17p TP53 P (Poor) 1 [6][12][33][51][15][5][30]
17 MDS CN-LOH 17pter-p11.2 TP53 Recurrent 2 [17][11][12][23][3][8][28][5]
17 MDS Loss 17q11.2 NF1 Recurrent 3 [27][15]
17 MDS CN-LOH 17q11.2-qter SRSF2, NF1 Recurrent 2 [6][49][7]
19 MDS CN-LOH 19pter-p13.11 DNMT1, PRDX2 Recurrent 3 [9][20]
19 MDS Loss 19p13.13 PRDX2 Recurrent 3 [1]
19 MDS Gain (Trisomy) 19 Whole Chromosome Recurrent 2 [6][9]
20 MDS Gain 20p Suggestive of ider(20p) with 20q del Recurrent 3 [6]
20 MDS Loss 20q ASXL1 P (Good)** 1 [6][11][1][51][5][9][34][35][32][30][31][25][22][12][19][43][54]
20 MDS CN-LOH 20q11.21-qter ASXL1 Recurrent 2 [5][32]
21 MDS Loss 21q22.12 RUNX1 D, P (Poor) 2 [6][17][26][11][27][33][15]
21 MDS CN-LOH 21q21.1-qter RUNX1, U2AF1 Recurrent 2 [6][7][5][21][52]
21 MDS Gain (Trisomy) 21 Whole Chromosome Recurrent 2 [6][12][30]
22 MDS CN-LOH 22q11.23-qter MN1, SF3A1, EP300 Recurrent 3 [6][10]

Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance. Recurrent indicates recurrent aberration with no established prognostic significance.

∗ Clinical significance based on WHO classification using IPSS-R[55][56].

** Isolated trisomy 8 or del(20q) are not diagnostic of MDS in the absence of morphologic findings of disease.

∗∗∗ Potential marker for responsiveness to hypomethylating agents or DNA methyltransferase inhibitors[57][58].


Table 3 - A Comprehensive List of Copy Number Aberrations and CN-LOH of Known or Likely Clinical Significance in MDS/MPN Detected by CMA Testing (Literature Review). Table derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics.

Chromosome Disease Abnormality Type (Gain, Loss, CN-LOH) Region Relevant Genes (if known) Clinical Significance* Level of Evidence References
1 MDS/MPN CN-LOH 1p21.3 MPL Recurrent 2 [8]
4 MDS/MPN Loss 4q24 TET2 Recurrent** 2 [13]
4 MDS/MPN CN-LOH 4q12.4-qter TET2 Recurrent 2 [16][36][13][8][20][35]
5 MDS/MPN Loss (Monosomy and q-arm) 5 / 5q RPS14 P (Intermediate) 1 [13][59][23][37][39][24]
7 MDS/MPN Loss 7q EZH2, CUX1 P (Poor) 1 [16][37]
7 MDS/MPN CN-LOH 7q21.11-qter EZH2, CUX1 Recurrent 2 [16][36][8][9][20]
8 MDS/MPN Gain (Trisomy) 8 Whole chromosome P (Poor) 1 [39][20]
9 MDS/MPN CN-LOH 9pter-p13.3 JAK2 Recurrent 2 [8]
11 MDS/MPN CN-LOH 11q13.2-qter CBL Recurrent 2 [16][36][13][8]
12 MDS/MPN Loss 12p ETV6 P (Intermediate) 1 [36][59]
13 MDS/MPN Loss 13q RB1 P (Intermediate) 1 [37][39]
14 MDS/MPN CN-LOH 14q CHGA Recurrent 3 [8]
17 MDS/MPN Loss 17p TP53 P (Poor)*** 1 [39]
20 MDS/MPN Loss 20q ASXL1 P (Intermediate) 2 [37]
21 MDS/MPN Gain 21q22.12 RUNX1 P (Intermediate) 2 [36][13]
21 MDS/MPN CN-LOH 21q22-qter RUNX1 Recurrent 2 [36][8]

Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance.

Recurrent indicates recurrent aberration with no established significance.

∗ Clinical significance based on International MDS/MPN Working Group recommendations[60]; No NCCN guidelines available. Low risk (normal, isolated –Y), Intermediate (others), High risk (+8, abnormal 7, complex).

∗∗ Potential marker for responsiveness to hypomethylating agents or DNA methyltransferase inhibitors[57][58].

∗∗∗ Haploinsufficiency of 17p as part of an isolated isochromosome may be a distinct disease entity with further increased risk of AML progression relative to 17p loss in a complex karyotype.


Table 4 - A Comprehensive List of Copy Number Aberrations and CN-LOH of Known or Likely Clinical Significance in MPN Detected by CMA Testing (Literature Review). Table derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics.

Chromosome Disease Abnormality Type (Gain, Loss, CN-LOH) Region Relevant Genes (if known) Clinical Significance* Level of Evidence Reference (PMID)
1 MPN CN-LOH 1p21.3 MPL Recurrent 2 [41]
1 MPN Gain 1q21.2-q32.1 Recurrent 2 [41][38][39]
4 MPN Loss 4q24 TET2 Recurrent 2 [14][40]
5 MPN Loss 5q RPS14 P (Poor) 1 [24]
6 MPN Loss 6p23-22.3 JARID2 Recurrent 3 [39][61]
7 MPN Loss 7q EZH2, CUX1 P (Poor) 1 [41]
7 MPN CN-LOH 7q22.1-qter EZH2, CUX1 Recurrent 2 [45]
8 MPN Gain (Trisomy) 8 Whole chromosome P (Poor) 1 [44]
9 MPN Gain 9p JAK2 Recurrent 2 [41][38][39]
9 MPN CN-LOH 9pter-p13.3 JAK2 Recurrent 2 [41][37][38][39][42]
9 CML Loss 9q34 Recurrent 3 [62][44]
9 CML Gain 9q34 (+Ph) ABL1 Recurrent 1 [44]
11 MPN CN-LOH 11q13.4-q25  CBL Recurrent 2 [41][38]
12 MPN Loss 12p13.3-p12.2 ETV6 P (Poor) 1 [45]
13 MPN Loss 13q RB1 Recurrent 1 [41]
14 MPN CN-LOH 14q CHGA Recurrent 3 [41][38][39][9]
17 MPN Loss 17p TP53 P (Poor) 1 [44][45][41]
20 MPN Loss 20q ASXL1 Recurrent 1 [41][43]
22 CML Loss 22q11.2 Recurrent 3 [62][44]
22 CML Gain 22q11.2 (+Ph) BCR Recurrent 1 [44]

Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance.

Recurrent indicates recurrent aberration with no established significance.

∗ Clinical significance based on NCCN guidelines[63]; For myelofibrosis, unfavorable [complex karyotype or sole or two abnormalities that include inv(3), 5/5q-, 7/7q-,+8, 11q23 rearrangement, 12p-, and (17q)].


  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Starczynowski DT, Vercauteren S, Telenius A, Sung S, Tohyama K, Brooks-Wilson A, et al. High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival. Blood 2008;112:3412-24.[1]
  2. ↑ 2.0 2.1 Yeung CCS, McElhone S, Chen XY, Ng D, Storer BE, Deeg HJ, et al. Impact of copy neutral loss of heterozygosity and total genome aberrations on survival in myelodysplastic syndrome. Mod Pathol 2017.[2]
  3. ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 Arenillas L, Mallo M, Ramos F, Guinta K, Barragan E, Lumbreras E, et al. Single nucleotide polymorphism array karyotyping: a diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytogenetic testing. Genes Chromosomes Cancer 2013;52:1167-77.[3]
  4. ↑ Cluzeau T, Moreilhon C, Mounier N, Karsenti JM, Gastaud L, Garnier G, et al. Total genomic alteration as measured by SNP-array-based molecular karyotyping is predictive of overall survival in a cohort of MDS or AML patients treated with azacitidine. Blood Cancer J 2013;3:e155.[4]
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 Ganster C, Shirneshan K, Salinas-Riester G, Braulke F, Schanz J, Platzbecker U, et al. Influence of total genomic alteration and chromosomal fragmentation on response to a combination of azacitidine and lenalidomide in a cohort of patients with very high risk MDS. Leuk Res 2015;39:1079-87.[5]
  6. ↑ 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 6.11 6.12 6.13 6.14 6.15 6.16 6.17 6.18 6.19 6.20 6.21 6.22 6.23 6.24 6.25 6.26 6.27 6.28 6.29 6.30 6.31 6.32 6.33 6.34 6.35 6.36 6.37 6.38 6.39 6.40 6.41 6.42 6.43 6.44 6.45 Tiu RV, Gondek LP, O'Keefe CL, Elson P, Huh J, Mohamedali A, et al. Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies. Blood 2011;117:4552-60.[6]
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 7.7 7.8 Gondek LP, Haddad AS, O'Keefe CL, Tiu R, Wlodarski MW, Sekeres MA, et al. Detection of cryptic chromosomal lesions including acquired segmental uniparental disomy in advanced and low-risk myelodysplastic syndromes. Exp Hematol 2007;35:1728-38.[7]
  8. ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 8.12 8.13 8.14 8.15 8.16 8.17 8.18 8.19 8.20 Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res 2008;68:10349-57.[8]
  9. ↑ 9.00 9.01 9.02 9.03 9.04 9.05 9.06 9.07 9.08 9.09 9.10 9.11 9.12 9.13 9.14 Sugimoto Y, Sekeres MA, Makishima H, Traina F, Visconte V, Jankowska A, et al. Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide. J Hematol Oncol 2012;5:4.[9]
  10. ↑ 10.00 10.01 10.02 10.03 10.04 10.05 10.06 10.07 10.08 10.09 10.10 10.11 10.12 10.13 Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, et al. The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods. Cancer Genet 2013;206:317-26.[10]
  11. ↑ 11.00 11.01 11.02 11.03 11.04 11.05 11.06 11.07 11.08 11.09 11.10 11.11 11.12 11.13 11.14 11.15 11.16 Evans AG, Ahmad A, Burack WR, Iqbal MA. Combined comparative genomic hybridization and single-nucleotide polymorphism array detects cryptic chromosomal lesions in both myelodysplastic syndromes and cytopenias of undetermined significance. Mod Pathol 2016;29:1183-99.[11]
  12. ↑ 12.00 12.01 12.02 12.03 12.04 12.05 12.06 12.07 12.08 12.09 12.10 12.11 12.12 12.13 12.14 12.15 12.16 12.17 12.18 12.19 Hu Q, Chu Y, Song Q, Yao Y, Yang W, Huang S. The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China. Ann Hematol 2016;95:1241-8.[12]
  13. ↑ 13.0 13.1 13.2 13.3 13.4 13.5 13.6 13.7 13.8 Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 2009;113:6403-10.[13]
  14. ↑ 14.0 14.1 14.2 14.3 Bacher U, Weissmann S, Kohlmann A, Schindela S, Alpermann T, Schnittger S, et al. TET2 deletions are a recurrent but rare phenomenon in myeloid malignancies and are frequently accompanied by TET2 mutations on the remaining allele. Br J Haematol 2012;156:67-75.[14]
  15. ↑ 15.00 15.01 15.02 15.03 15.04 15.05 15.06 15.07 15.08 15.09 15.10 15.11 Kolquist KA, Schultz RA, Furrow A, Brown TC, Han JY, Campbell LJ, et al. Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes. Cancer Genet 2011;204:603-28.[15]
  16. ↑ 16.00 16.01 16.02 16.03 16.04 16.05 16.06 16.07 16.08 16.09 16.10 16.11 16.12 Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 2008;111:1534-42.[16]
  17. ↑ 17.0 17.1 17.2 17.3 17.4 17.5 17.6 17.7 17.8 17.9 Heinrichs S, Kulkarni RV, Bueso-Ramos CE, Levine RL, Loh ML, Li C, et al. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia 2009;23:1605-13.[17]
  18. ↑ 18.0 18.1 Mohamedali AM, Smith AE, Gaken J, Lea NC, Mian SA, Westwood NB, et al. Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome. J Clin Oncol 2009;27:4002-6.[18]
  19. ↑ 19.0 19.1 19.2 19.3 19.4 19.5 19.6 Mohamedali A, Gaken J, Twine NA, Ingram W, Westwood N, Lea NC, et al. Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes. Blood 2007;110:3365-73.[19]
  20. ↑ 20.00 20.01 20.02 20.03 20.04 20.05 20.06 20.07 20.08 20.09 20.10 20.11 20.12 20.13 20.14 20.15 20.16 Flach J, Dicker F, Schnittger S, Schindela S, Kohlmann A, Haferlach T, et al. An accumulation of cytogenetic and molecular genetic events characterizes the progression from MDS to secondary AML: an analysis of 38 paired samples analyzed by cytogenetics, molecular mutation analysis and SNP microarray profiling. Leukemia 2011;25:713-8.[20]
  21. ↑ 21.0 21.1 21.2 21.3 21.4 Larsson N, Lilljebjorn H, Lassen C, Johansson B, Fioretos T. Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations. Eur J Haematol 2012;88:136-43.[21]
  22. ↑ 22.0 22.1 22.2 22.3 22.4 22.5 22.6 22.7 22.8 Huh J, Jung CW, Kim HJ, Kim YK, Moon JH, Sohn SK, et al. Different characteristics identified by single nucleotide polymorphism array analysis in leukemia suggest the need for different application strategies depending on disease category. Genes Chromosomes Cancer 2013;52:44-55.[22]
  23. ↑ 23.0 23.1 23.2 23.3 Jerez A, Gondek LP, Jankowska AM, Makishima H, Przychodzen B, Tiu RV, et al. Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited. J Clin Oncol 2012;30:1343-9.[23]
  24. ↑ 24.0 24.1 24.2 24.3 24.4 Stengel A, Kern W, Haferlach T, Meggendorfer M, Haferlach C. The 5q deletion size in myeloid malignancies is correlated to additional chromosomal aberrations and to TP53 mutations. Genes Chromosomes Cancer 2016;55:777-85. [24]
  25. ↑ 25.0 25.1 25.2 25.3 25.4 25.5 25.6 25.7 Kunze K, Gamerdinger U, Lessig-Owlanj J, Sorokina M, Brobeil A, Tur MK, et al. Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis. Pathol Res Pract 2014;210:369-76.[25]
  26. ↑ 26.0 26.1 26.2 26.3 26.4 26.5 Thiel A, Beier M, Ingenhag D, Servan K, Hein M, Moeller V, et al. Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance. Leukemia 2011;25:387-99.[26]
  27. ↑ 27.0 27.1 27.2 27.3 27.4 27.5 27.6 27.7 27.8 Volkert S, Haferlach T, Holzwarth J, Zenger M, Kern W, Staller M, et al. Array CGH identifies copy number changes in 11% of 520 MDS patients with normal karyotype and uncovers prognostically relevant deletions. Leukemia 2016;30:257-60.[27]
  28. ↑ 28.0 28.1 28.2 28.3 28.4 28.5 Svobodova K, Zemanova Z, Lhotska H, Novakova M, Podskalska L, Belickova M, et al. Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes. Leuk Res 2016;42:7-12.[28]
  29. ↑ 29.0 29.1 29.2 29.3 29.4 Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, et al. Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol 2014;164:73-82.[29]
  30. ↑ 30.0 30.1 30.2 30.3 30.4 30.5 30.6 30.7 30.8 30.9 Stevens-Kroef MJ, Hebeda KM, Verwiel ET, Kamping EJ, van Cleef PH, Kuiper RP, et al. Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome. Mol Cytogenet 2015;8:33.[30]
  31. ↑ 31.0 31.1 31.2 31.3 31.4 Barresi V, Palumbo GA, Musso N, Consoli C, Capizzi C, Meli CR, et al. Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML. Leuk Res 2010;34:1539-42.[31]
  32. ↑ 32.0 32.1 32.2 32.3 32.4 32.5 Nowak D, Nolte F, Mossner M, Nowak V, Baldus CD, Hopfer O, et al. Genome-wide DNA-mapping of CD34+ cells from patients with myelodysplastic syndrome using 500K SNP arrays identifies significant regions of deletion and uniparental disomy. Exp Hematol 2009;37:215-24.[32]
  33. ↑ 33.0 33.1 33.2 33.3 33.4 33.5 33.6 Zhang R, Kim YM, Wang X, Li Y, Lu X, Sternenberger AR, et al. Genomic Copy Number Variations in the Myelodysplastic Syndrome and Acute Myeloid Leukemia Patients with del(5q) and/or -7/del(7q). Int J Med Sci 2015;12:719-26.[33]
  34. ↑ 34.0 34.1 34.2 34.3 34.4 34.5 Vercauteren SM, Sung S, Starczynowski DT, Lam WL, Bruyere H, Horsman DE, et al. Array comparative genomic hybridization of peripheral blood granulocytes of patients with myelodysplastic syndrome detects karyotypic abnormalities. Am J Clin Pathol 2010;134:119-26. [34]
  35. ↑ 35.0 35.1 35.2 35.3 35.4 da Silva FB, Machado-Neto JA, Bertini V, Velloso E, Ratis CA, Calado RT, et al. Single-nucleotide polymorphism array (SNP-A) improves the identification of chromosomal abnormalities by metaphase cytogenetics in myelodysplastic syndrome. J Clin Pathol 2017;70:435-42. [35]
  36. ↑ 36.0 36.1 36.2 36.3 36.4 36.5 36.6 36.7 36.8 Palomo L, Xicoy B, Garcia O, Mallo M, Adema V, Cabezon M, et al. Impact of SNP array karyotyping on the diagnosis and the outcome of chronic myelomonocytic leukemia with low risk cytogenetic features or no metaphases. Am J Hematol 2016;91:185-92.[36]
  37. ↑ 37.0 37.1 37.2 37.3 37.4 37.5 37.6 Gondek LP, Dunbar AJ, Szpurka H, McDevitt MA, Maciejewski JP. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PLoS One 2007;2:e1225. [37]
  38. ↑ 38.0 38.1 38.2 38.3 38.4 38.5 Singh NR, Morris CM, Koleth M, Wong K, Ward CM, Stevenson WS. Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease. Mol Cytogenet 2013;6:59.[38]
  39. ↑ 39.00 39.01 39.02 39.03 39.04 39.05 39.06 39.07 39.08 39.09 39.10 39.11 Hahm C, Huh HJ, Mun YC, Seong CM, Chung WS, Huh J. Genomic aberrations of myeloproliferative and myelodysplastic/myeloproliferative neoplasms in chronic phase and during disease progression. Int J Lab Hematol 2015;37:181-9.[39]
  40. ↑ 40.0 40.1 Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K, et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood 2011;118:167-76.[40]
  41. ↑ 41.00 41.01 41.02 41.03 41.04 41.05 41.06 41.07 41.08 41.09 41.10 41.11 41.12 41.13 Rumi E, Harutyunyan A, Elena C, Pietra D, Klampfl T, Bagienski K, et al. Identification of genomic aberrations associated with disease transformation by means of high-resolution SNP array analysis in patients with myeloproliferative neoplasm. Am J Hematol 2011;86:974-9.[41]
  42. ↑ 42.0 42.1 Stegelmann F, Bullinger L, Griesshammer M, Holzmann K, Habdank M, Kuhn S, et al. High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrations. Haematologica 2010;95:666-9.[42]
  43. ↑ 43.0 43.1 43.2 Huh J, Tiu RV, Gondek LP, O'Keefe CL, Jasek M, Makishima H, et al. Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis. Genes Chromosomes Cancer 2010;49:390-9.[43]
  44. ↑ 44.0 44.1 44.2 44.3 44.4 44.5 44.6 Nowak D, Ogawa S, Muschen M, Kato M, Kawamata N, Meixel A, et al. SNP array analysis of tyrosine kinase inhibitor-resistant chronic myeloid leukemia identifies heterogeneous secondary genomic alterations. Blood 2010;115:1049-53.[44]
  45. ↑ 45.0 45.1 45.2 45.3 45.4 45.5 Boultwood J, Perry J, Zaman R, Fernandez-Santamaria C, Littlewood T, Kusec R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia 2010;24:1139-45.[45]
  46. ↑ Afable MG, 2nd, Wlodarski M, Makishima H, Shaik M, Sekeres MA, Tiu RV, et al. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood 2011;117:6876-84.[46]
  47. ↑ Betensky M, Babushok D, Roth JJ, Mason PJ, Biegel JA, Busse TM, et al. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet 2016;209:1-10.[47]
  48. ↑ Hahm C, Mun YC, Seong CM, Han SH, Chung WS, Huh J. Single nucleotide polymorphism array-based karyotyping in acute myeloid leukemia or myelodysplastic syndrome with trisomy 8 as the sole chromosomal abnormality. Acta Haematol 2013;129:154-8.[48]
  49. ↑ 49.0 49.1 49.2 49.3 49.4 Merkerova MD, Bystricka D, Belickova M, Krejcik Z, Zemanova Z, Polak J, et al. From cryptic chromosomal lesions to pathologically relevant genes: integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype. Genes Chromosomes Cancer 2012;51:419-28
  50. ↑ 50.0 50.1 Mohamedali AM, Gaken J, Ahmed M, Malik F, Smith AE, Best S, et al. High concordance of genomic and cytogenetic aberrations between peripheral blood and bone marrow in myelodysplastic syndrome (MDS). Leukemia 2015;29:1928-38.[49]
  51. ↑ 51.0 51.1 51.2 Bajaj R, Xu F, Xiang B, Wilcox K, Diadamo AJ, Kumar R, et al. Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. Mol Cytogenet 2011;4:3.[50]
  52. ↑ 52.0 52.1 Noronha TR, Rohr SS, Chauffaille Mde L. Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes. Rev Bras Hematol Hemoter 2015;37:48-54. [51]
  53. ↑ Paulsson K, Heidenblad M, Strombeck B, Staaf J, Jonsson G, Borg A, et al. High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia 2006;20:840-6. [52]
  54. ↑ Bacher U, Haferlach T, Schnittger S, Zenger M, Meggendorfer M, Jeromin S, et al. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact. Br J Haematol 2014;164:822-33.[53]
  55. ↑ Greenberg, Peter L.; et al. (2012). "Revised international prognostic scoring system for myelodysplastic syndromes". Blood. 120 (12): 2454–2465. doi:10.1182/blood-2012-03-420489. ISSN 1528-0020. PMC 4425443. PMID 22740453.
  56. ↑ Schanz, Julie; et al. (2012). "New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 30 (8): 820–829. doi:10.1200/JCO.2011.35.6394. ISSN 1527-7755. PMC 4874200. PMID 22331955.
  57. ↑ 57.0 57.1 Bejar, Rafael; et al. (2014). "TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients". Blood. 124 (17): 2705–2712. doi:10.1182/blood-2014-06-582809. ISSN 1528-0020. PMC 4208285. PMID 25224413.
  58. ↑ 58.0 58.1 Traina, F.; et al. (2014). "Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms". Leukemia. 28 (1): 78–87. doi:10.1038/leu.2013.269. ISSN 1476-5551. PMID 24045501.
  59. ↑ 59.0 59.1 Slovak ML, Smith DD, Bedell V, Hsu YH, O'Donnell M, Forman SJ, et al. Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes. Mol Cytogenet 2010;3:23. [54]
  60. ↑ Mughal, Tariq I.; et al. (2015). "An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms". Haematologica. 100 (9): 1117–1130. doi:10.3324/haematol.2014.114660. ISSN 1592-8721. PMC 4800699. PMID 26341525.
  61. ↑ Puda A, Milosevic JD, Berg T, Klampfl T, Harutyunyan AS, Gisslinger B, et al. Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies. Am J Hematol 2012;87:245-50. [55]
  62. ↑ 62.0 62.1 Huh J, Jung CW, Kim JW, Kim HJ, Kim SH, Shin MG, et al. Genome-wide high density single-nucleotide polymorphism array-based karyotyping improves detection of clonal aberrations including der(9) deletion, but does not predict treatment outcomes after imatinib therapy in chronic myeloid leukemia. Ann Hematol 2011;90:1255-64. [56]
  63. ↑ Mesa, Ruben A.; et al. (2017). "NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018". Journal of the National Comprehensive Cancer Network: JNCCN. 15 (10): 1193–1207. doi:10.6004/jnccn.2017.0157. ISSN 1540-1413. PMID 28982745.
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