title: [Fluorescence in situ hybridization study of acute myeloid leukemia with cryptic chromosome rearrangements].
abstract: OBJECTIVE
  To detect specific chromosome rearrangements in acute myeloid leukemia (AML) using interphase-fluorescence in situ hybridization (FISH).
  
  
  METHODS
  All cases were studied by R-band karyotypic analysis using direct method and/or short-term culture for chromosomes preparation. Interphase-FISH was performed in 108 cases of AML with M5, M4, M2, M3 subtypes including 103 cases with normal karyotypes, 4 cases with chromosomal abnormalities other than specific chromosomal rearrangements using chromosome translocation probe such as AML1/ETO, PML/RARα, CBFβ/MYH11 and MLL.
  
  
  RESULTS
  Of 38 cases of M2-AML without t(8;21) on conventional cytogenetics(CC) analysis, 4 cases showed positivity for AML1/ETO fusion transcript, which included 2 cases with typical signal model and 2 with insertion. Of 9 cases of M3-AML without t(15;17) on CC analysis, 6 showed positivity for PML/RARα fusion transcript including 2 with typical signal model, 3 with insertion, one without PML/RARα rearrangement on reverse transcription-PCR and FISH assay using PML/RARα probe. FISH assay using the RARα dual color, break-apart rearrangement probe indicated a partial deletion of RARα. Of 23 cases with M4 or M4EO-AML without inv(16) on CC analysis, 3 showed positivity for CBFβ/MYH11 fusion transcript. Of 38 cases without 11q23 translocation on CC analysis, all cases were negative for MLL rearrangement.
  
  
  CONCLUSIONS
  Interphase-FISH can detect specific chromosome rearrangements such as AML1/ETO, PML/RARα or CBFβ/MYH11 in some AML cases with normal karyotype, though it seemed less useful for the detection of MLL rearrangement.
authors.affiliation: The First Affiliated Hospital of Soochow University, Jiangsu, People's Republic of China.
authors.forename: Shu-xiao
authors.initials: SX
authors.lastname: Bai
authors.forename: Yong-quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: Su-ning
authors.initials: SN
authors.lastname: Chen
authors.forename: Jin-lan
authors.initials: JL
authors.lastname: Pan
authors.forename: Ya-fang
authors.initials: YF
authors.lastname: Wu
authors.forename: Juan
authors.initials: J
authors.lastname: Shen
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion