Publications

We maintain this section to inform interested users about independent scientific studies conducted on MetaSystems products. We assume no responsibility or liability regarding the accuracy or correct use of the information or statements provided by external authors. The conclusions or statements expressed in the publications listed are those of the external authors or researchers. The publications may involve user-specific adaptations of MetaSystems products. They are not intended for diagnostic use. For publications covered by the Intended Purpose of Metafer or Ikaros, please refer to the respective instructions for use (IFU).

Filter by Keyword

Filter by Product

Filtering by 'mfish' and XL

Remove All Filters

Mol Cytogenet, 4(1), 8
2011

A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.

Cristiano Krings Rocha, Inka Praulich, Iris Gehrke, Michael Hallek, Karl-Anton Kreuzer

ABSTRACT: The chromosomal translocation (11;14)(q13;q32) rearranging the locus for cyclin D1 (CCND1) to that of the immunoglobulin heavy chain (IGH) can be found in virtually all cases of mantle cell lymphoma (MCL), while other CCND1 translocations are extremely rare. As CCND1 overexpression and activation is a hallmark of MCL it is regarded as a central biological mechanism in the development and maintenance of this disease.Here we present a patient initially diagnosed with chronic lymphocytic leukemia (CLL) where chromosome banding analysis revealed, among other aberrations, a translocation (11;22)(q13;q11.2). We show by fluorescence in situ hybridization (FISH) analysis that on chromosome 22 the immunoglobulin light chain lambda (IGL) is involved in this cytogenetic aberration. Additionally, we demonstrate the resulting overexpression of CCND1 on the RNA and protein level, thereby consolidating the new diagnosis of a MCL-like B-cell neoplasia. Summing up, we described a rare case of t(11;22)(q13;q11.2) in a MCL-like neoplasia and showed that this aberration leads to an overexpression of CCND1 which is regarded as a key biological feature in MCL. This case underlines the importance of cytogenetic analyses especially in atypical cases of B cell lymphomas.