对一名急性髓系白血病M2亚型患者中一种伴有ins(15;21)(q15;q22.2q22.3)的新型复杂t(8;21)(q22;q22)变异体进行分子细胞遗传学研究。
Molecular cytogenetic investigations in a novel complex variant of t(8;21)(q22;q22) with ins(15;21)(q15;q22.2q22.3) in a patient with AML-M2 subtype.
作者信息
Kokate Prajakta, Ahmad Firoz, Dalvi Rupa, Das Bibhu Ranjan, Mandava Swarna
机构信息
Cancer Cytogenetic Division, SRL Ranbaxy Ltd., Plot No. 124, 17th Street, MIDC, Andheri (E), Mumbai 400093, India.
出版信息
Cancer Genet Cytogenet. 2008 Jul;184(1):52-6. doi: 10.1016/j.cancergencyto.2008.03.008.
Acute myeloid leukemia (AML) is a clinically and molecularly heterogeneous disease characterized by the aberrant proliferation of myeloid stem cells, reduced apoptosis and blockage in cellular differentiation. The present report describes the results of hematological, cytogenetic, and fluorescence in situ hybridization (FISH) analysis in a 25-year-old man diagnosed with AML-M2. Cytogenetic as well as FISH analysis revealed a complex translocation involving four chromosomes, with the karyotype 45,-Y,der(X)t(X;8)(p21;q22),der(8)t(8;21)(q22;q22),ins(15;21)(q15;q22.2q22.3),der(21)t(8;21)(q22;q22). The breakpoints at 8q22 and 21q22 suggested a rearrangement of the RUNX1T1 (alias ETO) and RUNX1 (previously AML1) genes, respectively. Using a dual-color FISH test with RUNX1T1 and RUNX1 probes, we demonstrated an RUNX1/RUNX1T1 fusion signal on the derivative chromosome 8, establishing this translocation as a novel complex variant of t(8;21)(q22;q22).
急性髓系白血病（AML）是一种临床和分子层面均具有异质性的疾病，其特征为髓系干细胞异常增殖、细胞凋亡减少以及细胞分化受阻。本报告描述了一名被诊断为AML-M2的25岁男性患者的血液学、细胞遗传学及荧光原位杂交（FISH）分析结果。细胞遗传学及FISH分析显示存在涉及四条染色体的复杂易位，核型为45,-Y,der(X)t(X;8)(p21;q22),der(8)t(8;21)(q22;q22),ins(15;21)(q15;q22.2q22.3),der(21)t(8;21)(q22;q22)。8q22和21q22处的断点分别提示RUNX1T1（别名ETO）和RUNX1（先前称为AML1）基因发生了重排。使用RUNX1T1和RUNX1探针进行双色FISH检测，我们在衍生染色体8上证实了RUNX1/RUNX1T1融合信号，确定这种易位为t(8;21)(q22;q22)的一种新型复杂变体。
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