Abstract
This study aims to investigate the prevalence and distribution of diverse chromosomal aberrations associated with myelodysplastic syndromes (MDS) in China. Bone marrow samples were collected from multiple cities in China. Metaphase cytogenetic (MC) analysis and fluorescence in situ hybridization (FISH) were initially used to test chromosomal lesions. Affymetrix CytoScan 750 K genechip platform performed a genome-wide detection of chromosomal aberrations. Chromosomal gain was identified in 76 patients; the most prevalent was trisomy 8(17.9 %). New chromosomal gain was detected on chromosome 9, 19p, and X. Chromosomal loss was detected in 101 patients. The most frequent was loss 5q (21.0 %). Some loss and gain were not identified by MC or FISH but identified by genechip. UPD was solely identified by genechip in 51 patients; the most prevalent were UPD 7q (4.94 %) and UPD 17p (4.32 %). Furthermore, complex chromosomal aberrations were detected in 56 patients. In conclusion, Affymetrix CytoScan 750 K genechip was more precise than MC and FISH in detection of cryptic chromosomal aberrations relevant to MDS. Analysis of the prevalence and distribution of diverse chromosomal aberrations in China may improve strategies for MDS diagnosis and therapies.
Similar content being viewed by others
Reference
Mohamedali A, Gäken J, Twine NA, Ingram W, Westwood N, Lea NC et al (2007) Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes. Blood 110(9):3365–3373
Delforge M (2003) Understanding the pathogenesis of myelodysplastic syndromes. Hematol J 4(5):303–309
Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Sole F et al (2012) Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120(12):2454–2465
Arber DA, Hasserjian RP (2015) Reclassifying myelodysplastic syndromes: what’s where in the new WHO and why. Hematology Am Soc Hematol Educ Program 2015:294–298
Tiu RV, Gondek LP, O’Keefe CL, Elson P, Huh J, Mohamedali A et al (2011) Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies. Blood 117(17):4552–4560
Jonas BA, Greenberg PL (2015) MDS prognostic scoring systems-past, present, and future. Best Pract Res Clin Haematol 28(1):3–13
Mecucci C (2014) Diagnosis and prognosis in myelodysplastic syndromes. The impact of cytogenetics. Recenti Prog Med 105(3):110–114
Hemmat M, Chen W, Anguiano A, El Naggar M, Racke FK, Jones D et al (2014) Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results. Mol Cytogenet 7:35
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749–764
Simons A, Shaffer LG, Hastings RJ (2013) Cytogenetic nomenclature: changes in the ISCN 2013 compared to the 2009 edition. Cytogenet Genome Res 141(1):1–6
Makishima H, Rataul M, Gondek LP, Huh J, Cook JR, Theil KS et al (2010) FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res 34(4):447–453
Shin S, Yu N, Choi JR, Jeong S, Lee KA (2015) Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. Ann Lab Med 35(5):510–518
Gondek LP, Tiu R, Haddad AS, O’Keefe CL, Sekeres MA, Theil KS et al (2007) Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS. Leukemia 21(9):2058–2061
Svobodova K, Zemanova Z, Lhotska H, Novakova M, Podskalska L, Belickova M et al (2016) 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 42:7–12
Xiao F, Li Y, Xu W, You L, Yang C, Liu H et al (2016) Efficacy and safety of homoharringtonine plus cytarabine and aclarubicin for patients with myelodysplastic syndrome—RAEB. Oncol Lett 11(1):355–359
Lukackova R, Gerykova Bujalkova M, Majerova L, Mladosievicova B (2014) Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A review. Biomed Pap Med 158(3):339–345
Wu C, Pan J, Qiu H, Xue Y, Chen S, Wu Y et al (2015) Microarray CGH analysis of hematological patients with del(20q). Int J Hematol 102(5):617–625
Mori N, Morosetti R, Hoflehner E, Lubbert M, Mizoguchi H, Koeffler HP (2000) Allelic loss in the progression of myelodysplastic syndrome. Cancer Res 60(11):3039–3042
Gondek LP, Tiu R, O’Keefe CL, Sekeres MA, Theil KS, Maciejewski JP (2008) Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 111(3):1534–1542
Ganster C, Kämpfe D, Jung K, Braulke F, Shirneshan K, Machherndl-Spandl S et al (2015) New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes. Genes Chromosomes Cancer 54(12):717–724
Saumell S, Florensa L, Luño E, Sanzo C, Cañizo C, Hernández JM et al (2012) Prognostic value of trisomy 8 as a single anomaly and the influence of additional cytogenetic aberrations in primary myelodysplastic syndromes. Br J Haematol 159(3):311–321
Komrokji RS, Padron E, Ebert BL, List AF (2013) Deletion 5q MDS: molecular and therapeutic implications. Best Pract Res Clin Haematol 26(4):365–375
Lapunzina P, Monk D (2011) The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer. Biol Cell 103(7):303–317
Nowak D, Nolte F, Mossner M, Nowak V, Baldus CD, Hopfer O et al (2009) 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 37(2):215–224
Platzbecker U, Santini V, Mufti GJ, Haferlach C, Maciejewski JP, Park S et al (2012) Update on developments in the diagnosis and prognostic evaluation of patients with myelodysplastic syndromes (MDS): consensus statements and report from an expert workshop. Leuk Res 36(3):264–270
McQuilten ZK, Sundararajan V, Andrianopoulos N, Curtis DJ, Wood EM, Campbell LJ et al (2015) Monosomal karyotype predicts inferior survival independently of a complex karyotype in patients with myelodysplastic syndromes. Cancer 121(17):2892–2899
Acknowledgments
This study was sponsored by the National Natural Science Foundation of China (No. 81372407).
Author information
Authors and Affiliations
Corresponding authors
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent
Informed consent was signed for each patient according to protocols permitted by Institutional Ethics Committee of Wuhan University.
Additional information
Qinyong Hu and Yuxin Chu contributed equally to this work.
Rights and permissions
About this article
Cite this article
Hu, Q., Chu, Y., Song, Q. et al. The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China. Ann Hematol 95, 1241–1248 (2016). https://doi.org/10.1007/s00277-016-2698-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-016-2698-7