Rocha Cristiano Krings, Praulich Inka, Gehrke Iris, Hallek Michael, Kreuzer Karl-Anton
Department I of Internal Medicine, University at Cologne, Cologne, Germany.
Mol Cytogenet. 2011 Apr 1;4(1):8. doi: 10.1186/1755-8166-4-8.
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.
染色体易位（11；14）（q13；q32），即将细胞周期蛋白D1（CCND1）基因座重排至免疫球蛋白重链（IGH）基因座，几乎在所有套细胞淋巴瘤（MCL）病例中均可发现，而其他CCND1易位则极为罕见。由于CCND1的过表达和激活是MCL的一个标志，它被视为该疾病发生和维持的核心生物学机制。在此，我们报告一名最初被诊断为慢性淋巴细胞白血病（CLL）的患者，染色体带型分析显示，除其他畸变外，存在易位（11；22）（q13；q11.2）。我们通过荧光原位杂交（FISH）分析表明，在22号染色体上，免疫球蛋白轻链λ（IGL）参与了这一细胞遗传学畸变。此外，我们还在RNA和蛋白质水平上证实了由此导致的CCND1过表达，从而巩固了MCL样B细胞肿瘤的新诊断。综上所述，我们描述了一例MCL样肿瘤中罕见的t（11；22）（q13；q11.2）病例，并表明这种畸变导致CCND1过表达，而CCND1过表达被认为是MCL的关键生物学特征。该病例强调了细胞遗传学分析的重要性，尤其是在B细胞淋巴瘤的非典型病例中。
