Maria Luiza Macedo Silva,
Susana C Raimondi,
Eliana Abdelhay,
Madeleine Gross,
Hasmik Mkrtchyan,
Amanda Faria de Figueiredo,
Raul C Ribeiro,
Terezinha de Jesus Marques-Salles, Elaine S Sobral,
Marcelo Poirot Gerardin Land,
Thomas Liehr
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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.
Cancer Genetics and Cytogenetics 05/2008; 182(1):56-60. · 1.39 Impact Factor
