Genetics analysis of two childhood acute myeloid leukemia patients with variant t(8;21)
10.3760/cma.j.issn.1009-9921.2012.09.002
- VernacularTitle:伴有t(8;21)变异易位的急性髓系白血病患儿二例遗传学研究
- Author:
Yaxiang HE
;
Yongquan XUE
;
Hongying WANG
;
Xuejun SHAO
;
Naichao YANG
;
Jun XU
;
Hong ZHU
;
Shaoyan HU
- Publication Type:Journal Article
- Keywords:
Leukemia,myeloid,acute;
Chromosome;
Variant;
Translocation,genetics;
Fluorescence in situ hybridization;
Polymerase chain reaction
- From:
Journal of Leukemia & Lymphoma
2012;21(9):517-519
- CountryChina
- Language:Chinese
-
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).
