A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints

Molecular Cytogenetics

Abdulsamad Wafa²  Moneeb Abdullah Kassem Othman³  Abdulmunim Aljapawe¹  Walid Al-achkar² 

[1]Department of Molecular Biology and Biotechnology, Mammalians Biology Division, Atomic Energy Commission, Damascus, Syria

[2]Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, P.O. Box 6091, Damascus, Syria

[3]Institute of Human Genetics, Jena University Hospital, Jena, Germany

关键词: Array-proven multicolor banding (aMCB);    Fluorescence in situ hybridization (FISH);    Chromosomal abnormalities;    Acute myeloid leukemia (AML);   

Others  :  1151011
DOI  :  10.1186/1755-8166-6-18

 received in 2013-03-05, accepted in 2013-03-18,  发布年份 2013

【 摘 要 】

Background

Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from having seen and described all possible genetic changes associated with this kind of acquired disease.

Results

Bone marrow cells of a female patient with clinical diagnoses of AML and immunophenotypically confirmed AML-M4 were studied by GTG-banding. The later was not able to resolve all karyotypic changes and the complex karyotype was characterized in more detail by fluorescence in situ hybridization (FISH) and array-proven multicolor banding (aMCB). To the best of our knowledge, the present case is the only one ever seen with a del(5)(q14q34), a der(17)t(4;17)(p13;p13), a del(2)(p23), a der(4)t(4;7)(p13;q11.23), a der(22)t(11;22)(q23;q11.2) and two complex rearranged chromosomes 11 involving chromosomes 7 and 22 as well as 2.

Conclusions

The yet unreported breakpoints observed in this case seem to be correlated with an adverse prognosis. Overall, molecular cytogenetic studies are suited best for identification and characterization of chromosomal rearrangements in acute leukemia and single case reports as well as large scale studies are necessary to provide further insides in karyotypic changes taking place in human malignancies.

【 授权许可】

   
2013 Al-achkar et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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