Clinical Relevance of High-Resolution Single Nucleotide Polymorphism Array in Patients with Relapsed Acute Lymphoblastic Leukemia with Normal Karyotype: A Report of Three Cases
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (9)
- Bullinger L, "Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis", Leukemia, 24, pp.438~449 (2010)
- Barresi V, "Broad copy neutral-loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype-acute myeloid leukemia genomes", Genes Chromosomes Cancer, 49, pp.1014~1023 (2010)
- Tiu RV, "New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia", J Clin Oncol, 27, pp.5219~5226 (2009)
- Yi JH, "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, 29, pp.4702~4708 (2011)
- Hahm C, "Genomic aberrations of myeloproliferative and myelodysplastic", myeloproliferative neoplasms in chronic phase and during disease progression, 2014, ~
- Huh J, "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, 52, pp.44~55 (2013)
- Betts D, "del(13q) in ALL", Atlas Genet Cytogenet Oncol Haematol, 9, pp.24~25 (2005)
- Kim M, "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, 195, pp.59~65 (2009)
- Heerema NA, "9p rearrangements in ALL", Atlas Genet Cytogenet Oncol Haematol, 3, pp.153~154 (1999)