通过分子细胞遗传学鉴定急性髓性白血病M2中伴有AML1/ETO融合基因的8号和21号染色体插入。
Identification of ins(8;21) with AML1/ETO fusion in acute myelogenous leukemia M2 by molecular cytogenetics.
作者信息
Urioste M, Martínez-Ramírez A, Cigudosa J C, Mateo M S, Martínez P, Contra T, Benítez J
机构信息
Departamento de Genética Humana, Programa de Patología Molecular, Centro Nacional de Investigaciones Oncológicas, Instituto de Salud Carlos III, Madrid, Spain.
出版信息
Cancer Genet Cytogenet. 2002 Feb;133(1):83-6. doi: 10.1016/s0165-4608(01)00555-6.
A high percentage of cases of acute myelogenous leukemia (AML) of the M2 subtype show a rearrangement between the AML1 and ETO genes. The detection of the AML1/ETO fusion has clinical relevance because patients with this subtype have a good prognosis. We present the results of conventional and molecular cytogenetic studies in a patient with acute myelogenous leukemia French-American-British M2 classification, who had a complex karyotype involving chromosomes 8 and 21. Dual-color fluorescence in situ hybridization (FISH) using the AML1/ETO probe demonstrated a recombination of both genes on an add(8) chromosome. The use of other FISH probes (CEP8, c-myc and TEL21) and spectral karyotyping indicated that AML1/ETO fusion occurred as a consequence of a previously undescribed ins(8;21)(q22;q22.1q22.3).
M2亚型急性髓性白血病（AML）的很大一部分病例显示AML1和ETO基因之间发生重排。检测到AML1/ETO融合具有临床意义，因为该亚型患者预后良好。我们展示了一名患有法美英M2分类的急性髓性白血病患者的传统细胞遗传学和分子细胞遗传学研究结果，该患者具有涉及8号和21号染色体的复杂核型。使用AML1/ETO探针的双色荧光原位杂交（FISH）显示两个基因在一条add(8)染色体上发生了重组。使用其他FISH探针（CEP8、c-myc和TEL21）以及光谱核型分析表明，AML1/ETO融合是由于之前未描述的ins(8;21)(q22;q22.1q22.3)所致。
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