Techniques for Detecting Chromosomal Aberrations in Myelodysplastic Syndromes

Overview

Journal Oncotarget

Specialty Oncology

Date 2017 Oct 6

PMID 28977983

Citations 4

Authors

Qibin Song

Min Peng

Yuxin Chu

Shiang Huang

Affiliations

Soon will be listed here.

Abstract

Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS. In this review, we will introduce some common chromosomal aberrations in MDS and their clinical significance. Then we will explain the application, advantages, and limitations of different techniques for detecting chromosomal abnormalities in MDS. The information in this review may be helpful for clinicians to select appropriate methods in patient-related decision making.

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References

Xing R, Li C, Gale R, Zhang Y, Xu Z, Qin T . Monosomal karyotype is an independent predictor of survival in patients with higher-risk myelodysplastic syndrome. Am J Hematol. 2014; 89(10):E163-8. DOI: 10.1002/ajh.23801. View

McNerney M, Brown C, Wang X, Bartom E, Karmakar S, Bandlamudi C . CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia. Blood. 2012; 121(6):975-83. PMC: 3567344. DOI: 10.1182/blood-2012-04-426965. View

Smetana J, Frohlich J, Zaoralova R, Vallova V, Greslikova H, Kupska R . Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience. Biomed Res Int. 2014; 2014:209670. PMC: 4060785. DOI: 10.1155/2014/209670. View

Kanagal-Shamanna R, Yin C, Miranda R, Bueso-Ramos C, Wang X, Muddasani R . Therapy-related myeloid neoplasms with isolated del(20q): comparison with cases of de novo myelodysplastic syndrome with del(20q). Cancer Genet. 2013; 206(1-2):42-6. DOI: 10.1016/j.cancergen.2012.12.005. View

da Silva F, Machado-Neto J, Bertini V, Velloso E, Ratis C, Calado R . Single-nucleotide polymorphism array (SNP-A) improves the identification of chromosomal abnormalities by metaphase cytogenetics in myelodysplastic syndrome. J Clin Pathol. 2016; 70(5):435-442. DOI: 10.1136/jclinpath-2016-204023. View

Paulsson K, Johansson B . Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes. Pathol Biol (Paris). 2006; 55(1):37-48. DOI: 10.1016/j.patbio.2006.04.007. View

Evans A, Ahmad A, Burack W, Iqbal M . 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(10):1183-99. DOI: 10.1038/modpathol.2016.104. View

Miller D, Adam M, Aradhya S, Biesecker L, Brothman A, Carter N . Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86(5):749-64. PMC: 2869000. DOI: 10.1016/j.ajhg.2010.04.006. View

Koh K, Lee J, Seo E, Lee S, Suh J, Im H . Clinical significance of previously cryptic copy number alterations and loss of heterozygosity in pediatric acute myeloid leukemia and myelodysplastic syndrome determined using combined array comparative genomic hybridization plus single-nucleotide.... J Korean Med Sci. 2014; 29(7):926-33. PMC: 4101780. DOI: 10.3346/jkms.2014.29.7.926. View

10.

Nomdedeu M, Calvo X, Pereira A, Carrio A, Sole F, Luno E . Prognostic impact of chromosomal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemia patients. A study by the spanish group of myelodysplastic syndromes. Genes Chromosomes Cancer. 2015; 55(4):322-7. DOI: 10.1002/gcc.22333. View

11.

Mundle S, Sokolova I . Clinical implications of advanced molecular cytogenetics in cancer. Expert Rev Mol Diagn. 2004; 4(1):71-81. DOI: 10.1586/14737159.4.1.71. View

12.

Welch J, Westervelt P, Ding L, Larson D, Klco J, Kulkarni S . Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA. 2011; 305(15):1577-84. PMC: 3156695. DOI: 10.1001/jama.2011.497. View

13.

van Spronsen M, Ossenkoppele G, Westers T, van de Loosdrecht A . Prognostic relevance of morphological classification models for myelodysplastic syndromes in an era of the revised International Prognostic Scoring System. Eur J Cancer. 2016; 56:10-20. DOI: 10.1016/j.ejca.2015.12.004. View

14.

Saumell S, Sole F, Arenillas L, Montoro J, Valcarcel D, Pedro C . Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?. PLoS One. 2015; 10(6):e0129375. PMC: 4466575. DOI: 10.1371/journal.pone.0129375. View

15.

Mishima T, Watari M, Iwaki Y, Nagai T, Kawamata-Nakamura M, Kobayashi Y . Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique. Congenit Anom (Kyoto). 2016; 57(2):61-63. DOI: 10.1111/cga.12193. View

16.

Tauscher M, Praulich I, Steinemann D . Array-CGH in childhood MDS. Methods Mol Biol. 2013; 973:267-78. DOI: 10.1007/978-1-62703-281-0_17. View

17.

Sloand E, Mainwaring L, Fuhrer M, Ramkissoon S, Risitano A, Keyvanafar K . Preferential suppression of trisomy 8 compared with normal hematopoietic cell growth by autologous lymphocytes in patients with trisomy 8 myelodysplastic syndrome. Blood. 2005; 106(3):841-51. PMC: 1895154. DOI: 10.1182/blood-2004-05-2017. View

18.

Jana B, Khanfar A, Ninan M . Durable hematological and major cytogenetic response in a patient with isolated 20q deletion myelodysplastic syndrome treated with lenalidomide. Case Rep Oncol Med. 2014; 2014:949515. PMC: 3970358. DOI: 10.1155/2014/949515. View

19.

Haase D, Germing U, Schanz J, Pfeilstocker M, Nosslinger T, Hildebrandt B . New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood. 2007; 110(13):4385-95. DOI: 10.1182/blood-2007-03-082404. View

20.

Strahm B, Nollke P, Zecca M, Korthof E, Bierings M, Furlan I . Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study. Leukemia. 2011; 25(3):455-62. DOI: 10.1038/leu.2010.297. View