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.
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.
Macedo Silva
Maria Luiza
ML
National Center for Bone Marrow Transplant, National Cancer Institute, Rio de Janeiro, Brazil. luizamacedo@inca.gov.br
Raimondi
Susana C
SC
Abdelhay
Eliana
E
Gross
Madeleine
M
Mkrtchyan
Hasmik
H
de Figueiredo
Amanda Faria
AF
Ribeiro
Raul C
RC
de Jesus Marques-Salles
Terezinha
T
Sobral
Elaine S
ES
Gerardin Land
Marcelo Poirot
MP
Liehr
Thomas
T
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
C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion