An acute myeloid leukemia case with concurrent 11q23 anomaly and D13S319 deficiency diagnosed by combined inter- and metaphase fluorescence in situ hybridization
10.3760/cma.j.issn.1003-9406.2020.01.013
- VernacularTitle: 联合间期和中期荧光原位杂交检测发现11q23异常伴D13S319缺失急性髓系白血病一例
- Author:
Zhenhao ZHANG
1
;
Yanfang WANG
;
Wei WAN
;
Xiaoyan KE
Author Information
1. Department of Hematology, Peking University Third Hospital, Beijing 100191, China
- Publication Type:Clinical Trail
- Keywords:
Fluorescence in situ hybridization;
Acute myeloid leukemia;
D13S319 deletion;
MLL gene rearrangement
- From:
Chinese Journal of Medical Genetics
2020;37(1):48-51
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.
Methods:G+ R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.
Results:The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.
Conclusion:Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del (13)(q14), -13 or der (13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.
