title: Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo.
abstract: The acute myeloid leukemia (AML) subtype M4Eo occurs in 5% of all AML cases and is usually associated with either an inv(16)(p13.1q22) or a t(16;16)(p13.1;q22) chromosomal abnormality. At the molecular level, these abnormalities generate a CBFB-MYH11 fusion gene. Patients with this genetic alteration are usually assigned to a low-risk group and thus receive standard chemotherapy. AML-M4Eo is rarely found in infants. We describe clinical, conventional banding, and molecular cytogenetic data for a 12-month-old baby with AML-M4Eo and a chimeric CBFB-MYH11 fusion gene masked by a novel rearrangement between chromosomes 1 and 16. This rearrangement characterizes a new type of inv(16)(p13.1q22) masked by a chromosome translocation.
authors.affiliation: National Center for Bone Marrow Transplant, National Cancer Institute, Rio de Janeiro, Brazil. luizamacedo@inca.gov.br
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Macedo Silva
authors.forename: Susana C
authors.initials: SC
authors.lastname: Raimondi
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.forename: Madeleine
authors.initials: M
authors.lastname: Gross
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Amanda Faria
authors.initials: AF
authors.lastname: de Figueiredo
authors.forename: Raul C
authors.initials: RC
authors.lastname: Ribeiro
authors.forename: Terezinha
authors.initials: T
authors.lastname: de Jesus Marques-Salles
authors.forename: Elaine S
authors.initials: ES
authors.lastname: Sobral
authors.forename: Marcelo Poirot
authors.initials: MP
authors.lastname: Gerardin Land
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion; D014178:Translocation, Genetic
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion