title: [Clinical and laboratory features of pediatric acute myeloid leukemia with inversion of chromosome 16].
abstract: OBJECTIVE
  To evaluate the clinical and laboratory features of pediatric inv(16) acute myeloid leukemia (AML) retrospectively.
  
  
  METHODS
  Dual color fluorescence in situ hybridization (D-FISH) using a LSI CBFβ inv(16) break apart probe labeled by Spectrum red and Spectrum green was performed in 15 acute myeloid leukemia cases, including 13 cases with or without abnormal eosinophils but with positive core binding factor β (CBFβ)-MYH11 fusion transcript detected by RT-PCR, and 2 cases with trisomy 8 (+8). The results were compared with the morphology, immunophenotype, karyotype and RT-PCR.
  
  
  RESULTS
  Morphologically, 12 cases were diagnosed as M(4)EO, 2 as M(4), and 1 as M(2a). Immunophenotypically, all 13 AML cases with inv(16) showed positive expression of CD(13) and CD(33), but without the expression of any lymphoid lineage antigens. Karyotyping analysis with G-banding detected inv(16) in 10 AML cases, including 9 M(4)EO cases and 1 M(2a), but only 5 positive cases were detected using R-banding technique. Among them, 2 cases had simultaneous +8 and trisomy22 (+22), one had +22 only in addition to inv(16). D-FISH revealed a CBFβ-MYH11 rearrangement in 13 cases of AML with positive RT-PCR results, and the mean positive rate of cell detection was 55.15% (range 37.0% - 86.0%). The complete remission rate (CR) and median survival period in this series of inv(16) AML were 81.5%and 11 months, respectively, of whom, 8 cases were still in CR. Relapse and karyotypic evolution were seen in case 5 with +8, +22 in addition to inv(16).
  
  
  CONCLUSIONS
  AML with inv(16) is a special subtype. Most cases belong to M(4)EO. Its prognosis is good in general, but it seems to be an unfavorable feature for AML with inv(16) and +8, +22 simultaneously, especially with karyotypic evolution. For detection of inv(16), G-banding technique is evidently superior to R-banding technique. D-FISH combined with RT-PCR are more sensitive and reliable than chromosome banding analysis.
authors.affiliation: Suzhou Children's Hospital Affiliated to Medical School of Suzhou University, Suzhou, China.
authors.forename: Ya-xiang
authors.initials: YX
authors.lastname: He
authors.forename: Yong-quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: Hong-ying
authors.initials: HY
authors.lastname: Wang
authors.forename: Nai-chao
authors.initials: NC
authors.lastname: Yang
authors.forename: Xue-jun
authors.initials: XJ
authors.lastname: Shao
authors.forename: Jun
authors.initials: J
authors.lastname: Xu
authors.forename: Zheng-hua
authors.initials: ZH
authors.lastname: Ji
authors.forename: Yi-ping
authors.initials: YP
authors.lastname: Huang
authors.forename: Yun-fang
authors.initials: YF
authors.lastname: Ding
authors.forename: Shao-yan
authors.initials: SY
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004802:Eosinophilia / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011379:Prognosis; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction