Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo

被引：8

作者：

Macedo Silva, Maria Luiza ^{[1
]}

Raimondi, Susana C. ^{[2
]}

Abdelhay, Eliana ^{[1
]}

Gross, Madeleine ^{[3
]}

Mkrtchyan, Hasmik ^{[3
]}

de Figueiredo, Amanda Faria ^{[1
]}

Ribeiro, Raul C. ^{[4
]}

Marques-Salles, Terezinha de Jesus ^{[5
]}

Sobral, Elaine S. ^{[6
]}

Gerardin Land, Marcelo Poirot ^{[6
]}

Liehr, Thomas ^{[3
]}

机构：

[1] Natl Canc Inst, Natl Ctr Bone Marrow Transplant CEMO Inca, BR-20230130 Rio De Janeiro, Brazil

[2] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA

[3] Inst Human Genet & Anthropol, Jena, Germany

[4] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN 38105 USA

[5] Univ Hosp Oswaldo Cruz, Pediat Oncohematol Ctr, Recife, PE, Brazil

[6] Univ Fed Rio de Janeiro, Martagao Gesteira Inst Pediat & Child Dev, Rio De Janeiro, Brazil

来源：

CANCER GENETICS AND CYTOGENETICS | 2008年 / 182卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.cancergencyto.2007.12.014

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The acute myeloid leukemia (AML) subtype M4Eo occurs in 5% of all AML cases and is usually associated with either an inv(16)(p13.1q22) or a t(16;16)(p13.1;q22) chromosomal abnormality. At the molecular level, these abnormalities generate a CBFB-MYH11 fusion gene. Patients with this Genetic alteration are usually assigned to a low-risk group and thus receive standard chemotherapy. AML-M4Eo is rarely found in infants. We describe clinical, conventional banding, and molecular cytogenetic data for a 12-month-old baby with AML-M4Eo and a chimeric CBFB-MYH11 fusion gene masked by a novel rearrangement between chromosomes 1 and 16. This rearrangement characterizes a new type of inv(16)(p13.1q22) masked by a chromosome translocation. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：56 / 60

页数：5

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