title: Clinical relevance of high-resolution single nucleotide polymorphism array in patients with relapsed acute lymphoblastic leukemia with normal karyotype: a report of three cases.
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.
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea. ; Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
authors.forename: Sang Hyuk
authors.initials: SH
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.
authors.forename: Seung-Hee
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.
authors.forename: Shine Young
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
authors.forename: Sun Min
authors.initials: SM
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.
authors.forename: Jongyoun
authors.initials: J
authors.lastname: Yi
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
authors.forename: In-Suk
authors.initials: IS
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea. ; Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
authors.forename: Hyung Hoi
authors.initials: HH
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
authors.forename: Chulhun Ludgerus
authors.initials: CL
authors.lastname: Chang
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea. ; Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
authors.forename: Eun Yup
authors.initials: EY
authors.lastname: Lee
mesh_terms: D000328:Adult; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics; D012008:Recurrence; D016160:Retinoblastoma Protein / Q000235:genetics
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D016160:Retinoblastoma Protein
keywords: Acute lymphoblastic leukemia; Array; Clonal evolution; Normal karyotype; Prognosis; Single nucleotide polymorphism