title: Single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia.
abstract: Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (6%) the most frequent copy-number abnormalities (CNA). Four patients (8%) showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24) and del(7q33-qter), ACA were infrequent (≤3%) but most of them recurrent (70%). Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17) that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics.
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Inés
authors: I
authors: Gómez-Seguí
authors: Array's Unit. Instituto Investigación Sanitaria Fundación La Fe, Valencia, Spain.
authors: Dolors
authors: D
authors: Sánchez-Izquierdo
authors: Laboratory of Molecular Biology, Department of Clinical Chemistry, University Hospital La Fe, Valencia, Spain.
authors: Eva
authors: E
authors: Barragán
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Esperanza
authors: E
authors: Such
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Irene
authors: I
authors: Luna
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: María
authors: M
authors: López-Pavía
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Mariam
authors: M
authors: Ibáñez
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Eva
authors: E
authors: Villamón
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Carmen
authors: C
authors: Alonso
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Iván
authors: I
authors: Martín
authors: Laboratory of Molecular Biology, Department of Clinical Chemistry, University Hospital La Fe, Valencia, Spain.
authors: Marta
authors: M
authors: Llop
authors: Laboratory of Molecular Biology, Department of Clinical Chemistry, University Hospital La Fe, Valencia, Spain.
authors: Sandra
authors: S
authors: Dolz
authors: Laboratory of Molecular Biology, Department of Clinical Chemistry, University Hospital La Fe, Valencia, Spain.
authors: Oscar
authors: O
authors: Fuster
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Pau
authors: P
authors: Montesinos
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Carolina
authors: C
authors: Cañigral
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Blanca
authors: B
authors: Boluda
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Claudia
authors: C
authors: Salazar
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain; Genetics Unit, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors: Jose
authors: J
authors: Cervera
authors: Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain.
authors: Miguel A
authors: MA
authors: Sanz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion