title: Detection of inv(16) and t(16;16) by fluorescence in situ hybridization in acute myeloid leukemia M4Eo.
abstract: OBJECTIVE
  It has been established that cytogenetic findings at the time of diagnosis of acute myeloid leukemia (AML) are powerful prognostic indicators. Pericentric inversion of chromosome 16 and translocation t(16;16) resulting in chimeric fusion of CBFB and MYH11 genes are typically seen in the M4-Eo FAB classification subset of AML and are associated with low-risk disease. These subtle chromosomal abnormalities may be difficult to detect in poor-quality metaphase preparations and if missed could lead to incorrect assignment to risk groups and influence the therapy decision-making process.
  
  
  METHODS
  We prospectively studied, at diagnosis, 10 patients with AML-M4 Eo by cytogenetics and fluorescent in situ hybridization (FISH) with two cosmids (36 and 40). As a control group, 7 patients (5 with a diagnosis of AML other than M4 Eo and two cases of reactive eosinophilia) were analyzed. In addition reverse transcriptase chain reaction (RT-PCR) studies were carried out in 6 cases.
  
  
  RESULTS
  Karyotypic analysis detected the inv(16) in all but one of the patients with M4-Eo while none of the control cases showed any abnormality on chromosome 16. FISH studies showed that all 10 patients had abnormalities on chromosome 16; the patient with normal karyotype showed an inv(16) by FISH, while a case with inv(16) by cytogenetics had a t(16;16) by FISH. RT-PCR demonstrated amplification of the CBFB/MYH11 product in all cases analyzed.
  
  
  CONCLUSIONS
  In patients with M4Eo and rearrangements of chromosome 16, FISH studies may afford more complete information than conventional cytogenetics and can be an alternative to RT-PCR studies.
authors.affiliation: Servicio de Hematología, Hospital Universitario de Salamanca, Paseo San Vicente 58-182, 37007 Salamanca, Spain. jmhernandezr@aehh.org
authors.forename: J M
authors.initials: JM
authors.lastname: Hernández
authors.forename: M B
authors.initials: MB
authors.lastname: González
authors.forename: I
authors.initials: I
authors.lastname: Granada
authors.forename: N
authors.initials: N
authors.lastname: Gutiérrez
authors.forename: C
authors.initials: C
authors.lastname: Chillón
authors.forename: F
authors.initials: F
authors.lastname: Ramos
authors.forename: J M
authors.initials: JM
authors.lastname: Ribera
authors.forename: M
authors.initials: M
authors.lastname: González
authors.forename: E
authors.initials: E
authors.lastname: Feliu
authors.forename: J
authors.initials: J
authors.lastname: San Miguel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004802:Eosinophilia / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000592:standards*; D015479:Leukemia, Myelomonocytic, Acute / Q000145:classification / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic