Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient

Warning

This publication doesn't include Faculty of Sports Studies. It includes Faculty of Medicine. Official publication website can be found on muni.cz.
Authors

STAŇO KOZUBÍK Kateřina MALČÍKOVÁ Jitka TICHÝ Boris KOTAŠKOVÁ Jana BORSKÝ Marek HRABČÁKOVÁ Viera FRANCOVÁ Hana VALÁŠKOVÁ Iveta BOURKOVÁ Ludmila ŠMARDOVÁ Jana DOUBEK Michael BRYCHTOVÁ Yvona POSPÍŠILOVÁ Šárka MAYER Jiří TRBUŠEK Martin

Year of publication 2009
Type Article in Periodical
Magazine / Source Cancer Genetics and Cytogenetics
MU Faculty or unit

Faculty of Medicine

Citation
Field Oncology and hematology
Keywords CLL;p53;MYCN
Description B-cell chronic lymphocytic leukemia (CLL) is an incurable disease with a highly variable clinical course. A proportion of patients eventually progress to a higher stage of malignancy. A recent association has been observed between the presence of aberrant somatic hypermutations in leukemic cells (hypermutations occurring outside of the immunoglobulin locus) and the transformation to a diffuse large B-cell lymphoma or prolymphocytic leukemia. In this study, we report on the rarely observed blastic transformation in a CLL patient who had previously been shown to harbor aberrant somatic hypermutations in the TP53 tumor-suppressor gene (Mol Immunol 2008;45:1525e29). The enzyme responsible, the activation-induced cytidine deaminase, was still active within the transformation, as evidenced by the ongoing class-switch recombination of cytoplasmic immunoglobulins. The transformation was accompanied by a complete p53 inactivation, as well as complex karyotype changes including prominent amplification of MYCN oncogene. Our case-study supports the view that the aberrant somatic hypermutation is associated with transformation of CLL to a more aggressive malignancy.
Related projects:

You are running an old browser version. We recommend updating your browser to its latest version.

More info