title: Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia.
abstract: OBJECTIVE
  Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML.
  
  
  METHODS
  We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed.
  
  
  RESULTS
  In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7% with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis.
  
  
  CONCLUSIONS
  In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup.
authors.affiliation: From the Divisions of Hematopathology and He.Rong@mayo.edu.
authors.forename: Rong
authors.initials: R
authors.lastname: He
authors.affiliation: Laboratory Genetics, Department of Laboratory Medicine and Pathology, and.
authors.forename: Anne E
authors.initials: AE
authors.lastname: Wiktor
authors.affiliation: From the Divisions of Hematopathology and.
authors.forename: Curtis A
authors.initials: CA
authors.lastname: Hanson
authors.affiliation: Laboratory Genetics, Department of Laboratory Medicine and Pathology, and.
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.affiliation: From the Divisions of Hematopathology and.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Kurtin
authors.affiliation: Laboratory Genetics, Department of Laboratory Medicine and Pathology, and.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Van Dyke
authors.affiliation: Division of Hematology, Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Litzow
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Howard
authors.affiliation: From the Divisions of Hematopathology and.
authors.forename: Matthew H
authors.initials: MH
authors.lastname: Howard
authors.affiliation: From the Divisions of Hematopathology and.
authors.forename: Kaaren K
authors.initials: KK
authors.lastname: Reichard
mesh_terms: D000328:Adult; D000465:Algorithms; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male
keywords: Genetics; Hematology; Hematopathology; Molecular diagnostics