Vieira L, Oliveira V, Ambrósio A P, Marques B, Pereira A M, Hagemeijer A, Boavida M G
Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisboa, Portugal.
Cancer Genet Cytogenet. 2001 Jul 15;128(2):104-7. doi: 10.1016/s0165-4608(01)00404-6.
We report the results of cytogenetic, fluorescence in situ hybridization (FISH) and molecular analyses in a 15-year-old boy diagnosed with acute myeloid leukemia subtype M2 (AML-M2). Cytogenetic and FISH analyses, the latter with whole chromosome painting probes, revealed a complex translocation involving four chromosomes: t(8;17;15;21)(q22;q23;q15;q22). The observation of breakpoints at 8q22 and 21q22 suggested a rearrangement of the ETO and AML1 genes, respectively. Using a dual-color FISH test with ETO and AML1 probes, we demonstrated an AML1/ETO fusion signal on the derivative chromosome 8. Reverse transcription-polymerase chain reaction (RT-PCR) analysis showed the presence of AML1/ETO fusion transcripts identical to those found in classical t(8;21). The present case highlights the relevant role of the rearranged chromosome 8, which encodes the AML1/ETO fusion product in the pathogenesis of AML-M2.
我们报告了一名15岁被诊断为急性髓系白血病M2型（AML-M2）男孩的细胞遗传学、荧光原位杂交（FISH）及分子分析结果。细胞遗传学和FISH分析（后者使用全染色体涂染探针）显示涉及四条染色体的复杂易位：t(8;17;15;21)(q22;q23;q15;q22)。在8q22和21q22处观察到断点，分别提示ETO和AML1基因发生重排。使用ETO和AML1探针进行双色FISH检测，我们在衍生染色体8上证实了AML1/ETO融合信号。逆转录聚合酶链反应（RT-PCR）分析显示存在与经典t(8;21)中发现的相同的AML1/ETO融合转录本。本病例突出了重排的8号染色体在AML-M2发病机制中编码AML1/ETO融合产物的相关作用。
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