title: A novel recurrent copy number loss region on 6q23.3 in MDS-related myeloid malignancy patients with stable survival conditions.
abstract: Metaphase cytogenetics (MC) karyotyping is a fundamental way to approach cytogenetic pathogenesis of MDS-related myeloid malignancies. However, in some patients, the results are normal while the patients often show discrepancies in survival conditions. To explain this question, we analyzed CytoScan™ HD array results of 20 MC-normal/failure patients who were followed up for three years. Exon sequencing was performed in genes RUNX1, TP53, ASXL1, and TET2. The array enabled the detection of additional aberrations in 16 (80%) patients. Eight patients were detected with cryptic copy number losses and six of them got aggressive disease conditions. RUNX1 mutations were sequenced in P110 and P114. Most importantly, two patients (P114 and P116) with copy number loss aberrations got stable survival conditions during follow-ups, and a novel recurrent copy number loss region harboring the proto-oncogene MYB was detected on chromosome 6q23.3 in both of them, which might benefit the survival of the patients.
authors.affiliation: a Department of Laboratory Medicine , Qingdao Women & Children's Hospital , Qingdao , China.|b State Key Laboratory of Medical Genomics , Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
authors.forename: Kun
authors.initials: K
authors.lastname: Chi
authors.affiliation: b State Key Laboratory of Medical Genomics , Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: c Department of Hematology , Ruijin Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
authors.forename: Lan
authors.initials: L
authors.lastname: Xu
authors.affiliation: d Department of Laboratory Medicine , Ruijin Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Wang
mesh_terms: D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D003582:Cytogenetics; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D008677:Metaphase; D009190:Myelodysplastic Syndromes / Q000235:genetics; D011379:Prognosis; D000090063:Proto-Oncogene Mas; D016019:Survival Analysis
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; C493728:RUNX1 protein, human
keywords: Oncogene MYB; RUNX1 mutations; SNP array analysis; copy number variations; uniparental disomy