Macedo Silva Maria Luiza, Raimondi Susana C, Abdelhay Eliana, Gross Madeleine, Mkrtchyan Hasmik, de Figueiredo Amanda Faria, Ribeiro Raul C, de Jesus Marques-Salles Terezinha, Sobral Elaine S, Gerardin Land Marcelo Poirot, Liehr Thomas
National Center for Bone Marrow Transplant, National Cancer Institute, Rio de Janeiro, Brazil.
Cancer Genet Cytogenet. 2008 Apr 1;182(1):56-60. doi: 10.1016/j.cancergencyto.2007.12.014.
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.
急性髓系白血病（AML）的M4Eo亚型占所有AML病例的5%，通常与inv(16)(p13.1q22)或t(16;16)(p13.1;q22)染色体异常相关。在分子水平上，这些异常产生CBFB-MYH11融合基因。具有这种基因改变的患者通常被归为低风险组，因此接受标准化化疗。AML-M4Eo在婴儿中很少见。我们描述了一名12个月大患有AML-M4Eo且具有嵌合CBFB-MYH11融合基因的婴儿的临床、传统显带和分子细胞遗传学数据，该融合基因被1号和16号染色体之间的一种新型重排所掩盖。这种重排表征了一种被染色体易位所掩盖的新型inv(16)(p13.1q22)。
