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.

Maria Luiza Macedo Silva, Susana C Raimondi, Eliana Abdelhay, Madeleine Gross, Hasmik Mkrtchyan, de Figueiredo, Amanda Faria, Raul C Ribeiro, de Jesus Marques-Salles, Terezinha, Elaine S Sobral, Marcelo Poirot Gerardin Land, Thomas Liehr

<p>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.</p>

Digital object identifier (DOI): 10.1016/j.cancergencyto.2007.12.014