title: Trisomy 22 as the sole abnormality is an important marker for the diagnosis of acute myeloid leukemia with inversion 16.
abstract: BACKGROUND
  The inversion of chromosome 16 (inv(16) (p13q22)) and the related t(16;16)(p13;q22) are chromosomal aberrations observed in approximately 10% of de novo acute myeloid leukemia (AML), mostly classified as M4Eo subtype, and associated with a relatively favorable outcome. However, it is a cryptic rearrangement and often difficult to recognize in conventional cytogenetics (CC). Trisomy 22 is an uncommon karyotypic aberration in AML and is often associated with inv(16)(p13q22). The aim of this study was to explore the value of trisomy 22 in the diagnosis of AML with inv(16).
  
  
  METHODS
  Dual-color interphase fluorescence in situ hybridization (FISH) was performed in 19 AML cases with trisomy 22 abnormality shown by R-banding CC. The probe was a two-color break-apart probe for CBFbeta on the centromeric side and the telomeric side.
  
  
  RESULTS
  R-banding CC did not reveal inv(16) in any of the 19 AML with trisomy 22, but FISH analysis showed inv(16) in 11 cases and del(16)(q22) in 1 case. Among the 11 cases with inv(16), 9 showed trisomy 22 as the sole abnormality, 1 was complicated by trisomy 8, and 1 was del(16)(q22).
  
  
  CONCLUSIONS
  This study further confirmed that trisomy 22 as the sole abnormality can be regarded as an important marker for inv(16) in AML.
authors.affiliation: Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Hui-Fen
authors.initials: HF
authors.lastname: Zhou
authors.forename: Lei
authors.initials: L
authors.lastname: Fan
authors.forename: Si-Xuan
authors.initials: SX
authors.lastname: Qian
authors.forename: Li-Juan
authors.initials: LJ
authors.lastname: Chen
authors.forename: Hai-Rong
authors.initials: HR
authors.lastname: Qiu
authors.forename: Su-Jiang
authors.initials: SJ
authors.lastname: Zhang
authors.forename: Jian-Yong
authors.initials: JY
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D007446:Chromosome Inversion / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers