RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22):: case report and review of the literature

被引：23
作者：
De Braekeleer, Etienne [1 ,2 ]
Douet-Guilbert, Nathalie [1 ,2 ,3 ]
Le Bris, Marie-Josee [3 ]
Morel, Frederic [1 ,2 ,3 ]
Ferec, Claude [2 ,4 ]
De Braekeleer, Marc [1 ,2 ,3 ]
机构：
[1] Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
[2] INSERM, U613, Brest, France
[3] CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
[4] CHU Brest, Hop Morvan, Lab Genet Mol & Histocompatibilite, Brest, France
来源：
CANCER GENETICS AND CYTOGENETICS | 2008年 / 185卷 / 01期
关键词：
D O I：
10.1016/j.cancergencyto.2008.04.011
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
We report here a 73-year old female who was admitted for hematomas, dyspnea, and fever. Hematological data showed pancytopenia with 9% blast cells positive for CD13, CD33, CD34, HLAD2, and myeloperoxydase. A diagnosis of acute myeloid leukemia (AML) type 2 (FAB classification) was made. Banding cytogenetic techniques performed on bone marrow cells showed a 48,XX,+8,+9,del(9)(q22q33)x2 ,t(6;21)(q24;q22)[20]/46,XX[2] karyotype. Fluorescence in situ hybridization (FISH) with BACs covering the RUNX1 (alias AML1) (band 21q22) and MTG16 (band 16q24) gene showed a fusion of both genes. The t(16;21)(q24;q22) has been described in 16 AML cases, including ours. Eleven patients bad received chemotherapy for a previous cancer, most of them were been treated with DNA-topoisomerase 11 inhibitors known to be associated with chromosomal translocations involving the RUNX1 gene. The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity. (C) 2008 Elsevier Inc. All rights reserved.
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页码：47 / 50
页数：4
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