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Genetics analysis of two childhood acute myeloid leukemia patients with variant t(8;21)

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Author:
No author available
Journal Title:
Journal of Leukemia & Lymphoma
Issue:
9
DOI:
10.3760/cma.j.issn.1009-9921.2012.09.002
Key Word:
白血病,髓系,急性;染色体;变异;易位,遗传;荧光原位杂交;聚合酶链反应;Leukemia,myeloid,acute;Chromosome;Variant;Translocation,genetics;Fluorescence in situ hybridization;Polymerase chain reaction

Abstract: Objective To report two childhood acute myeloid leukemia (AML) patients with t(8;20)(q22;q13) and t(1;8;21)(q32;q22;q22) respectively,as variant t(8;21).Methods Chromosome preparation of bone marrow cells were made using short-term culture and karyotypic analysis was carried out using R and G-banding techniques.Interphase-fluorescence in situ hybridization (I-FISH) and metaphase-FISH (M-FISH) were performed using dual color,dual fusion AML1-ETO probe to detect the AML1-ETO fusion gene.Multiplex RT-PCR was used to demonstrate the expression of AML1-ETO fusion transcript.Results The karyotype of bone marrow cells for these two childhood AML patients were 45,X,-Y,t(8;20)(q22;q13)[12]/46,XY[3](case 1) and 46,XX,t(1;8;21)(q32;q22;q22)[18]/46,XX[2](case 2),respectively.I-FISH and M-FISH confirmed that they all had the AML1-ETO fusion gene and variant t(8;21).The AML1-ETO fusion transcript in both patients was detected by RT-PCR.Conclusion t (8;20)(q22;q13) and t (1;8;21)(q32;q22;q22) are variant t (8;21) in nature.It is important to combine the conventional karyotypic analysis with D-FISH and multiplex RT-PCR to determine the nature and prognosis of AML patients with variant t(8;21).

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