Author/Authors :
Macedo Silva، نويسنده , , Maria Luiza and Raimondi، نويسنده , , Susana C. and Abdelhay، نويسنده , , Eliana and Gross، نويسنده , , Madeleine and Mkrtchyan، نويسنده , , Hasmik and de Figueiredo، نويسنده , , Amanda Faria and Ribeiro، نويسنده , , Raul C. and de Jesus Marques-Salles، نويسنده , , Terezinha and Sobral، نويسنده , , Elaine S. and Gerardin Land، نويسنده , , Marcelo ، نويسنده ,
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.
