title: DNA copy number changes and immunophenotype pattern in karyotypically normal acute myeloid leukemia patients from an Indian population.
abstract: Chromosomal abnormalities are important in the diagnosis and prognosis of patients with acute myeloid leukemia (AML). The purpose of this study was to identify DNA copy number variations in karyotypically normal AML patients and their correlation with immunophenotypes. Conventional comparative genomic hybridization (CGH) and immunophenotyping were performed in 46 untreated AML patients aged 7-68 years. Among the 86 Indian patients who had AML, 40 (46.5%) showed an abnormal karyotype and 46 (53.4%) showed no chromosome aberrations. The karyotypically abnormal AML patients were excluded from the study. Out of the 46 patients without chromosomal aberrations, 24 (52.2%) showed DNA copy number variations including losses and gains. The DNA copy number variations involved chromosomes 1, 3, 6, 12, 15, 16, 17 (gains) and 1, 4, 2, 3, 5, 7, 8, 9, 10, 11, 13, 15, 18, 20, 21 (losses). The aberrant immunophenotype was noticed in 13 of these 24 (54%) cases. The hidden chromosome rearrangements in karyotypically normal AML, which could not be detected by conventional cytogenetics and fluorescence in situ hybridization, were detected by CGH. These genetic changes have an important role in the prognosis of the disease. The DNA copy number changes might also be involved in the aberrant immunophenotypes in our study.
authors: Department of Cytogenetics, National Institute of Immunohaematology (NIIH), Parel, Mumbai, India. vbaburao@hotmail.com
authors: Nikesh
authors: N
authors: Kawankar
authors: Seema
authors: S
authors: Korgaonkar
authors: Lily
authors: L
authors: Kerketta
authors: Manisha
authors: M
authors: Madkaikar
authors: Farah
authors: F
authors: Jijina
authors: Kanjaksha
authors: K
authors: Ghosh
authors: Babu Rao
authors: BR
authors: Vundinti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002877:Chromosomes, Human / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D003582:Cytogenetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D006801:Humans; D016130:Immunophenotyping / Q000379:methods*; D017404:In Situ Hybridization, Fluorescence; D007194:India; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D055815:Young Adult