Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Clinical Relevance of High-Resolution Single Nucleotide Polymorphism Array in Patients with Relapsed Acute Lymphoblastic Leukemia with Normal Karyotype: A Report of Three Cases

  • Park, Sang Hyuk (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital) ;
  • Lee, Seung-Hee (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital) ;
  • Kim, Shine Young (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital) ;
  • Lee, Sun Min (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital) ;
  • Yi, Jongyoun (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital) ;
  • Kim, In-Suk (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital) ;
  • Kim, Hyung Hoi (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital) ;
  • Chang, Chulhun Ludgerus (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital) ;
  • Lee, Eun Yup (Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital)
  • Received : 2014.05.19
  • Accepted : 2014.10.28
  • Published : 2015.01.02
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Abstract

We report three patients with normal karyotype (NK) ALL, who showed genetic aberrations as determined by high-resolution single nucleotide polymorphism array (SNP-A) analysis at both diagnosis and relapse. We evaluated the clinical relevance of the SNP-A assay for the detection of subtle changes in the size of affected genetic lesions at relapse as well as the prognostic value of the assay. In our patients, application of the SNP-A assay enabled sensitive detection of cryptic changes affecting clinically important genes in NK ALL. Therefore, this assay seems to be more advantageous compared to other conventional methods such as FISH assay, HemaVision (DNA Technology, Denmark), and conventional karyotyping for the detection of an "unstable genotype" at relapse, which may be associated with microscopic clonal evolution and poor prognosis. Further comprehensive studies are required to confirm the issues presented by our case patients in this report.

Keywords

Acknowledgement

Supported by : Pusan National University Hospital

References

  1. Bullinger L, Kronke J, Schon C, Radtke I, Urlbauer K, Botzenhardt U, et al. Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis. Leukemia 2010; 24:438-49. https://doi.org/10.1038/leu.2009.263
  2. Barresi V, Romano A, Musso N, Capizzi C, Consoli C, Martelli MP, et al. Broad copy neutral-loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype-acute myeloid leukemia genomes. Genes Chromosomes Cancer 2010;49:1014-23. https://doi.org/10.1002/gcc.20810
  3. Tiu RV, Gondek LP, O’Keefe CL, Huh J, Sekeres MA, Elson P, et al. New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. J Clin Oncol 2009;27:5219-26. https://doi.org/10.1200/JCO.2009.21.9840
  4. Yi JH, Huh J, Kim HJ, Kim SH, Kim HJ, Kim YK, et al. Adverse prognostic impact of abnormal lesions detected by genome-wide single nucleotide polymorphism array-based karyotyping analysis in acute myeloid leukemia with normal karyotype. J Clin Oncol 2011;29:4702-8. https://doi.org/10.1200/JCO.2011.35.5719
  5. 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 2014 May 21. doi: 10.1111/ijlh.12257. [Epub ahead of print]
  6. 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. https://doi.org/10.1002/gcc.22005
  7. Betts D. del(13q) in ALL. Atlas Genet Cytogenet Oncol Haematol 2005;9:24-5. (http://AtlasGeneticsOncology.org/Anomalies/del13qALLID1188.html).
  8. Kim M, Yim SH, Cho NS, Kang SH, Ko DH, Oh B, et al. Homozygous deletion of CDKN2A (p16, p14) and CDKN2B (p15) genes is a poor prognostic factor in adult but not in childhood B-lineage acute lymphoblastic leukemia: a comparative deletion and hypermethylation study. Cancer Genet Cytogenet 2009;195:59-65. https://doi.org/10.1016/j.cancergencyto.2009.06.013
  9. Heerema NA. 9p rearrangements in ALL. Atlas Genet Cytogenet Oncol Haematol 1999;3:153-4. (http://atlasgeneticsoncology.org/Anomalies/9prearrALLID1156.html).