title: Typical CBFbeta/MYH11 fusion due to insertion of the 3'-MYH11 gene into 16q22 in acute monocytic leukemia with normal chromosomes 16 and trisomies 8 and 22.
abstract: In a case of acute monocytic leukemia, M5a according to the FAB classification, with a 48,XY,+8,+22 karyotype, amplification of the CBFbeta/MYH11 fusion transcript type A was detected by reverse transcriptase-polymerase chain reaction (RT-PCR). Fluorescence in situ hybridization (FISH) using an appropriate panel of DNA probes showed that insertion of the 3'-MYH11 within the CBFbeta gene on chromosome 16q22 was the mechanism producing the same molecular rearrangement as in typical inv(16)(p13q22)/t(16;16)(p13;q22).
authors.affiliation: Department of Hematology, University Hospital Sant Pau, Barcelona, Spain. aaventin@hsp.santpau.es
authors.forename: A
authors.initials: A
authors.lastname: Aventín
authors.forename: R
authors.initials: R
authors.lastname: La Starza
authors.forename: J
authors.initials: J
authors.lastname: Nomdedéu
authors.forename: S
authors.initials: S
authors.lastname: Brunet
authors.forename: J
authors.initials: J
authors.lastname: Sierra
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007948:Leukemia, Monocytic, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014314:Trisomy
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion