title: CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16.
abstract: We present a unique case of acute myeloid leukemia M4Eo (AML-M4Eo) with a CBFB/MYH11 fusion transcript and a trisomy 22, but in whom cytogenetic analyses did not disclose an inv(16). Fluorescence in situ hybridization (FISH) analysis with chromosome arm-specific painting probes as well as with the c40 and c36 cosmids also revealed no evidence for an inv(16), whereas the application of locus-specific probes confirmed the presence of a masked inv(16). The results of our comprehensive FISH investigations indicate that the events leading to this masked inv(16) were complex and concurred with deletions on both the long and short arms. The most likely explanation for the formation of the relevant CBFB/MYH11 fusion is an insertion of parts of the MYH11 into the CBFB gene, although it is also possible that it was formed by a double inversion.
authors.affiliation: Children's Cancer Research Institute (CCRI), St. Anna Children's Hospital, Vienna, Austria.
authors.forename: H
authors.initials: H
authors.lastname: Pirc-Danoewinata
authors.forename: H G
authors.initials: HG
authors.lastname: Dauwerse
authors.forename: M
authors.initials: M
authors.lastname: König
authors.forename: I
authors.initials: I
authors.lastname: Chudoba
authors.forename: M
authors.initials: M
authors.lastname: Mitterbauer
authors.forename: U
authors.initials: U
authors.lastname: Jäger
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015342:DNA Probes / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005456:Fluorescent Dyes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015479:Leukemia, Myelomonocytic, Acute / Q000175:diagnosis / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014314:Trisomy / Q000235:genetics
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015342:DNA Probes; D004273:DNA, Neoplasm; D005456:Fluorescent Dyes; D015514:Oncogene Proteins, Fusion