title: Refining the diagnosis and prognostic categorization of acute myeloid leukemia patients with an integrated use of cytogenetic and molecular studies.
abstract: Significant progress in the understanding of the genetic basis of acute myeloid leukemia (AML) has been made during the last 30 years. The aim of the present study was to assess whether the detection of recurrent gene rearrangements by fluorescent in situ hybridization (FISH) studies and NPM1 and FLT3 gene mutations by molecular studies added clinically relevant information to the karyotype in 113 AML patients. Thus, FISH and molecular studies were found to add new information in 22 and 55% of the patients, respectively, particularly in cases with normal karyotype (NK) or when a cytogenetic analysis failed. Patients with NK changed their genetic risk group to favorable in 27 and 29% of cases using FISH and molecular biology studies, respectively. Our results demonstrate that molecular biology and FISH studies provide relevant information in AML and should be routinely performed.
authors.affiliation: Hematopathology Section, Hospital Clínic, Barcelona, Catalonia, Spain. dcosta@clinic.ub.es
authors.forename: Dolors
authors.initials: D
authors.lastname: Costa
authors.forename: Anna
authors.initials: A
authors.lastname: Vidal
authors.forename: Ana
authors.initials: A
authors.lastname: Carrió
authors.forename: Concha
authors.initials: C
authors.lastname: Muñoz
authors.forename: Amparo
authors.initials: A
authors.lastname: Arias
authors.forename: Cándida
authors.initials: C
authors.lastname: Gómez
authors.forename: Daniela
authors.initials: D
authors.lastname: Berneaga
authors.forename: Dolors
authors.initials: D
authors.lastname: Colomer
authors.forename: Maria
authors.initials: M
authors.lastname: Rozman
authors.forename: Marta
authors.initials: M
authors.lastname: Pratcorona
authors.forename: Montserrat
authors.initials: M
authors.lastname: Torrebadell
authors.forename: Marina
authors.initials: M
authors.lastname: Díaz-Beyá
authors.forename: Jordi
authors.initials: J
authors.lastname: Esteve
authors.forename: Elías
authors.initials: E
authors.lastname: Campo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003582:Cytogenetics; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3