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原发性皮肤B细胞淋巴瘤中不存在t(14;18)染色体易位。

Absence of the t(14;18) chromosomal translocation in primary cutaneous B-cell lymphoma.

作者信息

Child F J, Russell-Jones R, Woolford A J, Calonje E, Photiou A, Orchard G, Whittaker S J

机构信息

Skin Tumour Unit and Department of Dermatopathology, St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, UK.

出版信息

Br J Dermatol. 2001 Apr;144(4):735-44. doi: 10.1046/j.1365-2133.2001.04128.x.

Abstract

BACKGROUND

The t(14;18)(q32;q21) chromosomal translocation is found in the majority of nodal follicular lymphomas and in a lower percentage of systemic high-grade diffuse large B-cell lymphomas. The translocation results in the juxtaposition of the bcl-2 gene on chromosome 18 with the immunoglobulin heavy chain joining region on chromosome 14. Bcl-2 protein prevents apoptosis and the translocation leads to overexpression of a functionally normal Bcl-2 protein that prevents apoptosis of neoplastic cells.

OBJECTIVES

The purpose of our study was to analyse cases of primary cutaneous B-cell lymphoma (PCBCL) for the presence of the t(14;18) translocation and to correlate the results with Bcl-2 expression and histological subtype.

METHODS

Forty-four cutaneous B-cell lymphoid proliferations (36 PCBCL, four follicular B-cell lymphomas with cutaneous presentation and four reactive B-cell infiltrates) were analysed by polymerase chain reaction amplification and polyacrylamide gel electrophoresis using consensus primers for the joining region on the immunoglobulin heavy chain gene in combination with either a primer for the major breakpoint region (MBR) or the minor cluster region (mcr) on chromosome 18.

RESULTS

None of 36 PCBCL analysed demonstrated a t(14;18) translocation; however, three of four systemic follicular B-cell lymphomas presenting in the skin were found to have a translocation in the MBR, which was confirmed by sequence analysis. Correlation with Bcl-2 immunostaining showed that of seven patients with high-grade cutaneous diffuse large B-cell lymphoma, four were Bcl-2 positive but had no evidence of a t(14;18) translocation. In the five cases classified as primary cutaneous follicle centre cell lymphoma, the neoplastic cells within the germinal centres failed to express Bcl-2. However, Bcl-2-positive neoplastic cells were present in all four cases of systemic follicular lymphoma, including the case that did not show a t(14;18) translocation. In all cases of marginal zone lymphoma the marginal zone lymphocytes were Bcl-2 positive.

CONCLUSIONS

These findings indicate that the t(14;18) translocation does not occur in PCBCL, which suggests the involvement of different pathogenetic mechanisms compared with their nodal counterparts. Furthermore, the detection of a t(14;18) translocation in cutaneous B-cell lymphoma should suggest the presence of systemic disease, which underlies the need for exhaustive staging procedures.

摘要

背景

t(14;18)(q32;q21)染色体易位见于大多数淋巴结滤泡性淋巴瘤,在系统性高级别弥漫性大B细胞淋巴瘤中所占比例较低。该易位导致18号染色体上的bcl-2基因与14号染色体上的免疫球蛋白重链连接区并列。Bcl-2蛋白可防止细胞凋亡,而这种易位会导致功能正常的Bcl-2蛋白过度表达,从而防止肿瘤细胞凋亡。

目的

我们研究的目的是分析原发性皮肤B细胞淋巴瘤(PCBCL)病例中t(14;18)易位的存在情况,并将结果与Bcl-2表达及组织学亚型相关联。

方法

采用聚合酶链反应扩增和聚丙烯酰胺凝胶电泳,使用免疫球蛋白重链基因连接区的共有引物,结合18号染色体上主要断裂点区域(MBR)或次要簇区域(mcr)的引物,对44例皮肤B细胞淋巴增殖性病变(36例PCBCL、4例有皮肤表现的滤泡性B细胞淋巴瘤和4例反应性B细胞浸润)进行分析。

结果

36例分析的PCBCL均未显示t(14;18)易位;然而,4例皮肤表现的系统性滤泡性B细胞淋巴瘤中有3例在MBR区域存在易位,经序列分析得以证实。与Bcl-2免疫染色的相关性显示,7例高级别皮肤弥漫性大B细胞淋巴瘤患者中,4例Bcl-2阳性,但无t(14;18)易位的证据。在5例分类为原发性皮肤滤泡中心细胞淋巴瘤的病例中,生发中心内的肿瘤细胞未表达Bcl-2。然而,在所有4例系统性滤泡性淋巴瘤病例中均存在Bcl-2阳性的肿瘤细胞,包括未显示t(14;18)易位的病例。在所有边缘区淋巴瘤病例中,边缘区淋巴细胞Bcl-2阳性。

结论

这些发现表明PCBCL中不存在t(14;18)易位,这提示其与淋巴结淋巴瘤相比涉及不同的发病机制。此外,皮肤B细胞淋巴瘤中检测到t(14;18)易位应提示存在系统性疾病,这也是需要进行全面分期检查的原因。

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