A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)

Molecular Cytogenetics

Jörg Berg¹  Herbert Stekel²  Michael Fridrik³  Daniela Voskova³  Gabriele Herber²  Christian Paar² 

[1]Institute of Laboratory Medicine, Medical University Graz, Auenbruggerplatz 2, A-8036, Graz, Austria

[2]Institute of Laboratory Medicine, General Hospital Linz, Krankenhausstrasse 9, A-4020, Linz, Austria

[3]Department of Medicine III, General Hospital Linz, Krankenhausstrasse 9, A-4020, Linz, Austria

关键词: Clonal evolution;    Isochromosome 5p;    Tetrasomy 8;    Multicolor FISH;    Fluorescence in situ hybridization (FISH);    Chromosomal abnormalities;    Acute monoblastic leukemia;    AML;   

Others  :  1150776
DOI  :  10.1186/1755-8166-6-40

 received in 2013-07-04, accepted in 2013-08-25,  发布年份 2013

【 摘 要 】

Background

Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important information for disease classification, treatment selection and prognosis. Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. In addition, erratic chromosomal rearrangements may occur in AML, sometimes unbalanced and also accompanied by other abnormalities. Knowledge on the contribution of rare abnormalities to AML disease, progression and prognosis is limited.

Here we report a unique case of acute monoblastic leukemia with gain of i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1.

Results

Bone marrow cells were examined by conventional karyotyping, fluorescence in situ hybridization (FISH) and mutation analysis at diagnosis and follow-up. At diagnosis we detected trisomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1. During the course of the disease we observed clonal evolution with gain of i(5)(p10), tetrasomy 8 and eventually duplication of der(19)t(17;19)(q23;p13.3). By using the der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 8.

Conclusions

This case of acute monoblastic leukemia presents a combination of rare chromosomal abnormalities including the unbalanced translocation der(19)t(17;19)(q23;p13.3), hitherto un-reported in AML. In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. Reporting and collecting data of rare chromosomal abnormalities will add information to AML disease, progression and prognosis, and may eventually translate to improved patient management.

【 授权许可】

   
2013 Paar et al.; licensee BioMed Central Ltd.

【 图 表 】

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