title: Bone Marrow Conventional Karyotyping and Fluorescence In Situ Hybridization:  Defining an Effective Utilization Strategy for Evaluation of Myelodysplastic Syndromes.
abstract: OBJECTIVE
  The current standard of practice for evaluation of myelodysplastic syndromes (MDS) includes peripheral blood and bone marrow morphology review and conventional karyotyping. Karyotype provides a global view of the chromosome complement while fluorescence in situ hybridization (FISH) targets specific abnormalities. The aim of this study was to determine if an MDS-FISH panel would add value beyond karyotype in MDS workup.
  
  
  METHODS
  We studied 505 patients who were evaluated for a possible MDS and had concurrent bone marrow examination, karyotyping, and MDS-FISH performed.
  
  
  RESULTS
  In total, 462 cases had adequate karyotyping (≥20 metaphases) and showed excellent concordance (96%, 445/462) between karyotyping and MDS-FISH. Additional FISH abnormalities had no impact on diagnosis and minimal impact on the cytogenetic prognostic scoring in the myeloid neoplasm cases (2%, 4/206). The concordance rate dropped to 82% (32/39) in the group with insufficient karyotyping (<20 metaphases), and additional FISH findings in this subgroup had no impact on the diagnosis but altered the cytogenetic prognostic scoring in 10% (2/20) of myeloid neoplasm cases.
  
  
  CONCLUSIONS
  In the evaluation of a possible MDS, FISH rarely provides additional value when karyotype is adequate. We propose a value-based, cost-effective algorithmic approach for conventional karyotyping and FISH testing in routine MDS workup.
authors.affiliation: From the Divisions of Hematopathology he.rong@mayo.edu.
authors.forename: Rong
authors.initials: R
authors.lastname: He
authors.affiliation: Laboratory Genetics.
authors.forename: Anne E
authors.initials: AE
authors.lastname: Wiktor
authors.affiliation: From the Divisions of Hematopathology.
authors.forename: David K
authors.initials: DK
authors.lastname: Durnick
authors.affiliation: From the Divisions of Hematopathology.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Kurtin
authors.affiliation: Laboratory Genetics.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Van Dyke
authors.affiliation: Hematology, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.affiliation: Hematology, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Mrinal S
authors.initials: MS
authors.lastname: Patnaik
authors.affiliation: From the Divisions of Hematopathology Laboratory Genetics.
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.affiliation: From the Divisions of Hematopathology Laboratory Genetics.
authors.forename: Curtis A
authors.initials: CA
authors.lastname: Hanson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D055815:Young Adult
keywords: Genetics; Hematology; Hematopathology; Molecular diagnostics